Paediatrics

TB

4-8w: febrile illness, erythema nodosum, phlyctenular conjunctivitis 6-9mo: progressive healing of primary complex, effusion, cavitation, coin lesion on CXR, miliary spread Rx as normal Miliary: 3mo all 4, 12-18mo 2

Dilated cardiomyopathy

ABCCCCD, thyrotoxicosis, haemochromatosis, takotsubo's cardiomyopathy LVF and RVF with ventricular thrombus/emboli diffuse displaced apex, S3, MR/TR BNP, Na (low is poor prognosis) CXR: cardiomegaly, pulm oed ECG: non-specific ST T changes Echo: globally dilated hypokinetic heart Standard HF therapy + anticoagulation

IE

Acute is normally S. aureus subacute = abnormal valves, S. viridans (dental procedures) Bacteria: Strep viridans, Staph aureus, Strep bovis, enterococci (often after lower GI surgery), coxiella burnetii, gram/culture -ve HACEK (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, Kingella), diphtheriods, Chlamydia Fungal: Candida, Aspergillus, Histoplasma Other: Marantic, Libmann-Sacks (SLE), Loffler's (eosinophillic) Can be just prolonged fever lasting months or rapid onset high intermittent fever w/ myalgia, arthralgia, headache, weight loss, night sweats. Clubbing, pallor/anaemia, splenomegaly, microscopic haematuria Modified Duke criteria Major Positive blood culture (typical in 2 cultures, persistently +ve in 3 or more, or single +ve for coxiella burnetti) Endocardium involved (+ve echo, PET/CT, paravalvular lesion on CT) Minor Predisposition (cardiac lesions or IVDU) Fever >38 Vascular phenomena (arterial emboli, pulmonary infarcts, mycotic aneurysms, intracranial bleed, conjunctival hemorrhages, Janeway lesions) Immunological phenomenon ( glomerulonephritis, Osler nodes, Roth spots, rheumatoid factor) +ve blood culture (not major) 2/2 major, 1/2 major + 3/5 minor, 0/2 major + 5/5 minor Blood cultures: 3 from different sites >12h apart FBC: anaemia, neutrophilia, high ESR/CRP U+es, Mg, LFT, RhF urinalysis, CXR, ECG (aortic abscess) echo (TOE for lesions <2mm) CT to look for emboli Non-pharma: Advise about oral health, dangers of invasive procedures (piercings, tattoos) Prosthetic>1y or native= ampicillin, flucloxicillin and gentamicin prosthetic <1y= vanc + gent + rifampicin Specifics: Staphs (native) flucloxicillin >4w Staphs (prosthetic) fluclox + rifamp + gent >6w Streps Benzlpeniciliin (+gent if resistance) 4-6w Enterococci amoxicillin + gent 4-6w HACEK ceftriaxone 4-6w Candida amphotericin Aspergillus voriconazole Surgery if HF, valve obstruction, repeated emboli, fugal, persistent bacteraemia, myocardial abscess, or unstable infected prosthetic valve NO Abx for prophylaxis. 20% mortality, 60% develop HF. systemic emboli from left sided IE can cause brain abscess and stroke.

Parental responsibility

Automatically given to mother Given to father if: married at birth, unmarried but registered on birth certificate, entered into PResp agreement, obtained PResp court order or obtained residence order. Can later marry to gain PResp

Cardiac tamponade

Beck's triad: rising JVP, falling BP, muffled heart ECG: low voltage QRS + electrical alternans Echo diagnostic treat with pericardiocentesis (culture, ZN stain, cytology)

Hydrocele

Fluid within tunica vaginalis Primary: due to patent processus vaginalis (failure of fusion after testicular descent down canal). More common, larger, usually in young men. Can resolve spontaneously Secondary: due to testes tumour, trauma or infection Soft swelling around testis, transilluminates, examiner can get above it CONGENITAL: most resolve by 2nd year. If don't Rx with short groin incision and repair Aspiration (may need repeating) Surgery: Lord's repair (plicating tunica vaginalis) or Jaboulay's repair (inverting sac)

Paraphimosis

Foreskin retracted, becomes oedematous, and can't be pulled back. Teenagers/young men, or elderly whose foreskins are left after catheter placement. Painful. Iced glove method: topical LA gel. Glove filled with ice+water and tied. Penis invaginated against thumb of glove Granulated sugar: put in condom or glove around penis Dundee technique: LA, 20 needle punctures of prepuce, oedematous fluid squeezed out, then prepuce replaced Surgery: longitudinal incision in constricting prepuce Circumcision after to prevent recurrence

Benign oesophageal stricture

GORD, corrosives, surgery, radiotherapy. Treat with endoscopic balloon dilatation

Acute pancreatitis

Gallstones (35%), Ethanol (35%), Trauma (1.5%), Steroids, Mumps, Autoimmune (PAN), Scorpion venom (trinidadean), Hyperlipidaemia, Hypothermia, Hypercalcaemia, ERCP (5%), Emboli, Drugs (azothioprine, mesalazine, bendroflumethiazide, furosemide, valproate (GETSMASHED). Also pregnancy, neoplasia, idiopathic In kids generally single acute episode Gradual or sudden severe epigastric/central abdo pain, radiating directly to back, relieved by sitting forwards. Vomiting prominent Tachycardia, fever, jaundice, shock, ileus, rigid abdomen +/-local/general tenderness. Periumbilical bruising (Cullen's sign) or flank bruising (Grey-Turner's sign) due to blood vessel autodigestion, retroperitoneal haemorrhage Amylase: raised >3fold normal range. Can be normal even in severe disease. Mildly raised in cholecystitis, mesenteric ischaemia, GI perforation. Renal excreted, so increased falsely in renal failure. Drops 24-48h after event Lipase: more sensitive and specific (esp if alcohol), rises earlier and falls later CRP: >150 at 36h is severe ABG AXR: no psoas shadow (retroperitoneal fluid), 'sentinel loop' of proximal jejunum (due to ileus) erect CXR: exclude perforation CT: diagnostic (Balthazar score) USS/ERCP: if gallstones suspected Modified Glasgow criteria (PANCREAS) PaO2<8kPa Age>55 Neutrophilia - WCC>15x10^9 Calcium<2 Renal function - urea>16 Enzymes - LDH>600, AST>200 Albumin<32 Sugar - CBG>10 If >=3 positives within 48h of onset, classify as severe pancreatitis, refer to ITU/HDU. Valid for gallstones+alcohol Others: Ranson's criteria, APACHE-II (acute physiology and chronic health examination), BISAP (bedside index for severity in acute pancreatitis) NBM, NJ feeding (decrease pancreatic stimulation), IVI of crystalloid. Urinary catheter and CVP line Analgaesia (Pethidine or morphine - causes oddi sphincter contraction) Hourly obs, daily FBC, U+E, Ca, glucose, amylase, ABG Early complications: Shock, ARDS, renal failure (prevented with fluids), DIC, sepsis, hypocalcaemia, hyperglycaemia (transient, insulin occasionally required) Late complications(>1w) Pancreatic necrosis: laparotomy+necrosectomy Pseudocyst: mass may be palpable, may need drainage Abscess: needs drainage Bleeding: elastase erodes arteries, esp splenic artery. Embolisation is life saving Thrombosis: gastroduodenal/splenic arteries, colic arteries of SMA (bowel necrosis) Fistulae: usually resolve spontaneously Recurrent oedematous pancreatitis Kids generally complete recovery if minimal organ dysfunction

Midgut malrotation

Leaves caecum high in RUQ, duodenaljejunal junction mobile in midline and narrow base for mesentery (small pedicle for SMA to pass through). Asymptomatic, can only be detected by contrast meal and follow through and USS. Associated w/ CDH, exomphalmos, DA. Predisposes to midgut volvulus. To prevent, surgical correction by Ladd's procedure (usually + incidental appendicectomy) Midgut volvulus Catastrophic sudden event. Immediate high intestinal obstruction at duodenal level, rapidly followed by infarction of whole midgut Bile-stained vomiting, circulatory collapse, tender abdomen AXR: similar to duodenal atresia - double bubble + paucity of gas elsewhere in abdo Confirm w/ urgent upper GI contrast study Immediate laparotomy to untwist volvulus. If bowel healthy, Ladd's procedure. If viability in doubt, second look laparotomy after 24h. If massive intestinal necrosis (common), excision + anastamosis. Child left with very short gut and requirement of IV feeding longterm

atrioventricular septal defect

Partial More serious ASD, affecting endocardial cushions. Lower atrial septal defect associated with 3-leaflet mitral valve (L->R shunt w/ valve incompetence - MR) often seen in Down's Usually asymptomatic, larger defects -> recurrent chest infection + CHF Surgical pre-school closure to prevent CCF/PHTN Complete Septal defect from middle of atria to middle of ventricular septum, with single large 5-valved AV valve Rx heart failure, surgery at 3mo before Eisenmenger

Ulcerative Colitis

Proctitis (30%), left sided colitis (40%), pancolitis (30%). Relapsing remitting, thought to be due to immune response against colonic flora in genetically susceptible individuals. Smoking is protective. Typically 20-40yo Produces a hyperaemic, haemorrhagic colonic mucosa with pseudopolyps and punctate ulcers extending into lamina propria - inflammation limited to mucosa + crypt abscesses episodic or chronic diarrhoea (bloody/mucoid, freq determines severity). Urgency/tenesmus in proctitis. Attacks may present with systemic symptoms (fever, malaise, anorexia, weight loss) May be no signs, or fever/tachycardia + tender distended abdomen in severe acute attacks Extra-intestinal signs: clubbing, aphthous ulcers, erythema nodosum, pyoderma gangrenosum, conjunctivitis, episcleritis, iritis, large joint arthritis, sacroiliitis, ankylosing spondylitis, PSC, nutritional deficits Acute complications: toxic dilatation of colon w/ risk of perforation, VTE, hypokalaemia Chronic complications: Colonic cancer - surveillance endoscopy to look for areas of dysplasia and take random biopsies every 1-5yrs FBC, U+E, LFT, ESR/CRP, blood culture Stool MC&S/CDT: exclude dysentry Faecal calprotectin: inflammatory marker AXR: mucosal thickening/islands, dilatation (lead-pipe colon) Lower GI endoscopy: flexible sigmoidoscopy in acute for biopsies, then full colonoscopy once stable to assess extent of disease Severity assessed by Truelove&Witts criteria Mild (<=4 motions/d, small rectal bleeding, apyrexial, HR<70 at rest, Hb >110, ESR<30) Moderate (5 motions/d, moderate rectal bleeding, 37.1-37.8C, HR 70-90 at rest, Hb 105-110) Severe (>=6 motions/d, large rectal bleeding, >37.8C, HR>90 at rest, Hb<105, ESR>30/CRP>45) Treatment Mild: 5-ASA (mesalazine) given PR for distal disease or PO for extensive. Can add topical steroid foams or prednisolone retention enemas Moderate: 1wk pred, then taper over 7wk, then maintenance therapy with 5-ASA Severe: IV hydration/electrolytes, IV hydrocortisone/methylpred, PR hydrocortisone, VTE prophylaxis, multiple stool MC&S/CDT. Monitor temp, HR, BP and stool (stool chart), twice daily abdo exam, daily FBC, U+E, ESR/CRP (+/-AXR). If CRP>45/>=6 movements/d on days 3-5, rescue therapy with ciclosporin or infliximab. If successful, switch to pred with maintenance infliximab or azothioprine (if ciclosporin used). If not successful by d7-10, urgent surgery Add azothioprine if flare occurs during tapering, or if >=2 steroid courses required/yr. Infliximab/adalimumab/golimumab and vedolizumab can be added for refractory/intolerant Pts Surgery: Subtotal colectomy+terminal ileostomy with completion proctectomy (permanent stoma) or ileo-anal pouch (continence, but opening may be still >6/d, recurrent pouchitis may be problem IBD-U: Colonic IBD, but unknown whether Crohn's or UC

Transposition of the great arteries

Pulmonary artery attached to LV at birth, aorta to RV, producing 2 parallel circuits. Must have mixing via ASD or PDA to survive Hours/days of birth w/ worsening duct-dependent cyanosis and severe hypoxia w/o HF. Medical emergency! ECG superior axis CXR - "Egg on a string" heart Maintain temp (hypothermia worsens hypoxic acidosis), correct acidosis and hypoglycaemia. Acutely, prostaglandin E infusion and balloon atrial septostomy improve oxygenation. Definitive arterial switch procedure done within 2w of life

AS

Senile calcification, congenital (bicuspid, William's), RF classic triad angina, syncope, dyspnoea. Pulsus parvus et tardus, narrow pulse pressure, heaving non-displaced apex. ESM at aortic area, radiating to carotids. quiet A2 (inaudible if calcified), ejection click (if valve pliable), paradoxically split S2, S4. May have lower GI bleeding due to angiodysplasias - Heyde's syndrome ECG: LVH, Pmitrale, LBBB/AV block (calcified ring) CXR: LVH, calcified valve, aortic dilation Echo, Catheterisation if in doubt for symptomatic, prompt valve replacement. TAVI or valvuloplasty if not fit for surgery

Other surgical conditions

Tongue tie: common, usually asymptomatic. Can cause poor breastfeeding (not bottle feeding), corrected by division of frenulum. Notably, does not cause lisp or eating problems Dermoid cyst: common, non-tender mobile subcut cysts filled with keratin, hair follicles and sebaceous glands (teratoma). Enlarge slowly, should be treated by excision. Occur along emryological fusion lines (lateral corner of eyebrow, midline of neck, over bridge of nose, suprasternal notch, posterior to pinna of ear), or in ovary (teratoma) Desmoid tumour: fibroblast tumours, anywhere from non aggressive fibrous tumours to low grade fibrosarcomas. Intra-abdominal desmoid tumours occur in FAP Thyroglossal duct cyst (TDC): midline neck swelling just below hyoid in ant triangle, rising with tongue protrusion and swallowing. Gradually enlarge and become infected, making excision difficult. USS - thin walled anechoic or echogenic (if infected). Rx excision of central hyoid + cyst + tract Epstein's pearl Branchial remnants Branchial sinuses: small cutaneous openings along anterior SCM border (lower 1/3) that discharge mucus. can communicate with tonsilar fossa (branchial fistula). Excision to prevent infection Branchial cysts: uncommon neck swellings along anterior SCM border, near angle of mandible. Majority from 2nd branchial cleft. USS - anechoic (echogenic if infected). Excise Cystic hygroma: congenital lymphatic malformation causing obstruction of lymphatic channels. Early childhood onset <2yo w/ soft painless fluid filled multilocular cystic swellings appearing after intercurrent viral infection. Can be anywhere, but neck (posterior to SCM)and axillae most common. If large can present at birth w/ airway obstruction. USS - hypoechoic. Rx small - none. Large lesions infiltrate surrounding tissue so excision impossible. Intralesional injection of OK432 (lyophilised product of GAS) Congenital torticollis: within first few weeks of life small swelling in neck (sternomastoid tumour) - palpable area of lower SM fibrosis - resolving after a few months. May have hx of dystocia. Subsequent shortening of SM causes rotation and tilting of head to opposite side. Rx conservative, passive stretching exercises. W/o full RoM, hemifacial atrophy and strabismus may develop, so if PT not working may need to divide SM

PS

Usually congenital (Turner, Noonan, Williams, Fallot, Rubella). rarely RF, carcinoid. Dyspnoea, fatigue, ascites, oedema prominent a wave, RV heave, ESM w/ ejection click at P area radiating to left shoulder. Widely split S2 Severe: long murmur, obscuring A2, soft P2 ECG: RVH, P pulmonale CXR: prominent pulm arteries due to post-stenotic dilation echo, catheterisation diagnostic valvuloplasty/valvotomy

Constipation

Usually idiopathic, due to low fibre diet, lack of mobility/exercise, poor colonic motility (50% +ve FH), dehydration, overenthusiastic potty training. Rarely opiates, anal fissure, hypothyroidism, Hirschprung's, hypercalcaemia Straining/infrequent stools (<3/w, rabbit stool - bristol stool chart 1), anal pain on defecation, anal fissure/fresh rectal bleeding, abdo pain (wax and wane with passage of stool), anorexia (improves on defecation), involuntary overflow soiling, large soils that block toilet, spurious diarrhoea (pass around solid impaction), flatulence, reduced growth, abdo distension, palpable abdo/PR faecal indentable mass Retentive posturing: straight leg, tiptoes, back arching Do not PR unless unresponsive to initial Rx RED FLAGS: present from birth/first weeks of life, meconium takes >48h to pass, Ribbon stools, leg weakness, distension AMBER FLAGS: faltering growth, evidence of child maltreatment IMPACTION SYMPTOMS: severe constipation, overflow soiling, faecal mass palpable in abdo. PR only by specialist Rx First line movicol paediatric plan (plyethylene glycol 3350 + electrolytes). If no disimpaction within 2w, add stimulant laxative. Tell families Rx initially increases soiling and abdo pain. Rx for normal constipation same NEVER use dietary + behavioural as first line alone Diet: increase PO fluids and fibres, natural laxatives (fruit juice) Behavioural: toilet footrests, 5min toilet time after meals, star charts/rewards for passing stool, tell parents not to show concern for child Stool softners: movicol, lactulose, Na docusate Stimulant laxatives: senna, Na picosulphate. May be required PO Mg citrate, MgPO4 or large volume polyethylene glycol (PEG) - may require NG for rapid infusion Enemas: only if all above fail Hospital admission: manual evacuation under GA or sedation, PO PEG Unweaned infants: bottlefed - extra water in between feeds, gentle abdo massage, bicycling infant's legs. Breastfed - highly unusual, seek organic causes Weaned infants: extra water, fruit juice, fruits

Chronic lung disease of prematurity

abnormal CXR + supplemental O2 requirement beyond 28d due to neonatal disease Nutrition: monitor weight, gastrostomy if required. GOR due to flat diaphragm and tachypnoea may require fundoplication (try medical first). Vitamins Vaccination: ensure uptodate, but beware live vaccines with steroid use. Rx infections quickly

WPW

accessory pathway, causing ortho/antidromic AVRTs. type A +ve d in V1, type B -ve associated with ebstein's anomaly presents with arrhythmia symptoms or asymptomatic ECG: normal if unidirectional AP, delta waves if bidirectional (more risk). If intermittent delta waves, longer refrectory period (less risk) invasive electrophysiology testing Treatment is catheter ablation of AP 2nd: education about vagal manoeuvres 3rd: pill in the pocket diltiazem or propanolol (CI in AF) BEWARE: AF can lead to pre-excited AF, leading to VT, VF and cardiac arrest AV blockers (CCBs, BBs, digoxin) CI in WPW

Laryngeal atresia

rare, invariably fatal at birth. Antenatal US shows large bright foetal lungs distended with foetal lung fluid. Can't be corrected due to pulmonary hypoplasia. Rx ToP

McCune-Albright syndrome

Cafe au lait macules with coast of Maine appearance, not crossing midline Polyostic fibrous dysplasia: slowly progressive bone lesions (typically face/skull) Autonomous endocrine gland hyperfunction: ovary (precocious puberty), thyroid (hyperthyroidism), adrenal (Cushings), pituitary (gigantism), parathyroid (hyperparathyroidism)

Thrombocytopenia

DECREASED PRODUCTION Selective megakaryocyte depression: viral (HIV, EBV, B19), bacterual infection, drugs BM failure: aplastic anaemia, Fanconi's, severe IUGR/pre-eclampsia, neonatal sepsis BM infiltration: leukaemia, neuroblastoma, osteoporosis BM depression: RT, cytotoxic drugs, drug reaction Hereditary: Wiskott-Aldrich syndrome (XLR, thrombocytopenia, eczema, immunocomprimise, due to Ig abnormalities), BSS, TAR syndrome Nutritional: B12/folate deficiency INCREASED DESTRUCTION Immune: ITP (child or mother), NAIT, SLE, HIT/penicillin induced, infection (malaria, HIV) Non-immune: DIC, Kasabach-Merritt syndrome, HUS, cardiac disease (prosthetic valves, cardiopulmonary bypass) Hypersplenism: platelets pool in spleen

Gastroschisis

Eviscerated bowel not covered by sack through defect in abdo wall to R of umbilicus. Due to contact with amniotic fluid, bowel is thickened and matted. Usually no associated abnormalities (occasionally intestinal atresias - 10%). Diagnosed by antenatal USS Cover exposed bowel with clingfilm. Keep baby warm and hydrated, AXR unnecessary. Regular IVI 4.5% albumin Surgery: rapid closure ASAP. Often staged using a silo as abdo too small to accomodate bowel. Silo gradually reduced in size until closure of defect possible TPN required for many weeks as intestinal function slow to resume after repair, but longterm outcome excellent

Conduct disorder

a repetitive and persistent pattern of antisocial, aggressive or defiant behaviour violating age-appropriate social norms with impact on family/peer relationships and schooling Conduct Disorder (CD) Aggression/cruelty to people/animals, destruction of property, deceitfulness, theft, fire-setting, truancy, running from home, severe provocative/disobedient behaviour Oppositional Defiant Disorder (ODD) enduring negative, hostile and defiant behaviour w/o violation of social norms. Can be angry/irritable, argumentative/defiant or vindictiveness Parent management training: eg Webster-Stratton incredible years programme, positive parenting programme (triple P) Functional family therapy Child interventions: last resort 50% will receive diagnosis of antisocial PD as adults. Poor schooling and societal prognosis

Taeniae (tapeworm)

Cestode. Intestinal tapeworm from ingestion of larvae in undercooked pork (T. solium), beef (T. saginata) or Asian meat (T. asiatica) Causes no or mild GI symptoms, with proglottids around anus and in faeces. Rarely T. solinium causes cysticercosis, neurocysticercosis from ingestion of eggs in food contaminated with human faeces (not larvae as usual) Diagnoisis by microscopy (eggs/proglottids in faeces) Treat with praziquantel, niclosamide Neurocysticercosis Larval cysts infect CNS Epilepsy 70%, focal neurology 20%: motor/sensory loss, language disturbance, involuntary movements. Headache, visual loss, meningitis, hydrocephalus, cognitive impairment CT/MRI shows cysticerci, serology Treat non-calcified lesions w/ albendazole (good CNS penetration) Consider dexamethosone for inflammatory response to treatment. Control seizures, neurosurgical consult for high ICP/hydrocephalus

Hereditary sensorimotor neuropathy

Charcot-Marie-Tooth aka peroneal muscular atrophy. Inherited neuropathy starting at puberty with weak legs, foot drop and variable loss of sensation/reflexes. Peroneal muscle atrophy leads to inverted champagne bottle appearance, hand/arm atrophy also occurs Most common CMT1A mutation (AD) HSMN type I (demyelination) autosomal dominant due to defect in PMP-22 gene (which codes for myelin) features often start at puberty motor symptoms predominate distal muscle wasting, pes cavus, clawed toes foot drop, leg weakness often first features. Then clumsiness and loss of fine motor control. Eventually glove and stocking paraesthesias HSMN type II (axonal loss) Rx PT to stop contractures

Abnormal bleeding

Coag factor deficiencies: excessive blood loss post-surgery (classically post-circumcision), recurrent bruises >1cm, muscle haematomas, joint haemarthroses Platelet deficiencies/dysfunction: purpura/petichiae, mucosal bleeding (recurrent epistaxis, menorrhagia, GI/GU tract haemorrhage - menorrhagia) Microvascular (vasculitis): palpable purpura

Hand, foot and mouth disease

Coxsackie or enterovirus 71 infection of preschool children. Painful small vesicles affecting mouth (stomatitis, occurs first), palms, soles and occasionally nappy area, spontaneously resolving within 10d. May have mild sore throat, fever. Viral swab confirms. Rx reassurance

DI

Cranial DI Idiopathic Congenital: ADH gene mutations, Wolfram's syndrome/DIDMOAD (DI,DM,optic atrophy and deafness) Tumour: craniopharyngioma, mets, pituitary tumour Trauma: temporary if distal to pituitary stalk, as nerve fibres regrow and secrete ADH into scar tissue capillaries Hypophysectomy Autoimmune hypophysitis Infiltration: histiocytosis, sarcoidosis Vascular: haemorrhage, Sheehan's syndrome Infection: meningoencephalitis Nephrogenic DI Congenital Metabolic: low K, high Ca Drugs: lithium, demeclocycline CKD Post-obstructive uropathy Polyuria, polydipsia (v. severe), dehydration, hypernatraemia symptoms Infants: FTT, fever, constipation U+E, Ca (exclude metabolic), BM (exclude DM) Urine volume: >3L/d Serum/urine osmolality: serum osmolality=2*(Na+K)+urea+glucose. Norm is 285-295, urine can be 500-600. DI excluded if urine:serum osmolality >2:1 and serum<=295. In DI, low urine osmolality with high serum osmolality (dehydrated), so U:S<2:1 8h water deprivation test: Stage 1: stop fluids at 7.30, start at 8.00. Empty bladder, then no fluid only dry food. Weigh hourly, if >3% weight loss urgent serum osmolality (>300, goto stage 2, <300 continue). Urine every 2h, venous sample every 4h. If after 8h urine osmolality>800, stop test (negative), if <600, goto stage 2 Stage 2: Allow pt to drink, give desmopressin, measure urine osmolality hourly for 4h Norm=stage 1>800, psychogenic polydipsia=stage 1 600-800, DI=stage 1<600 Cranial DI=stage 2>600, nephrogenic DI=stage 2 no change (>800) STOP IF thirst becomes intolerable or 5% weight loss Cranial DI: anterior pituitary hormone panel, MRI pituitary. Treat with desmopressin Nephrogenic DI: treat cause. If refractory, try bendroflumethiazide. NSAIDs inhibit prostaglandins, disinhibiting ADH response and decreasing urine volume + serum Na. Amiloride also used Acutely do urgent U+E and osmolalities. Monitor fluid balance and keep up with IVI fluids. Reduce serum Na at 12mmol/L/d to prevent cerebral oedema. Try desmopressin IM if high suspicion

Congenital hypothyroidism

Cretinism. 85% sporadic thyroid dysgenesis, 15% Pendred's syndrome, Iodine deficiency (common worldwide, rare UK), congenial TSH deficiency Umbilical hernia, prolonged jaundice, constipation, hypotonia, hoarse cry, poor feeding, excessive sleepiness, dry skin, coarse faecies, delayed neurodevelopment Complications (if no Rx): neurodevelopmental delay, mental retardation, poor motor coordination, hypotonia, ataxia, poor growth/stature Screened with Guthrie card within 1w of life Thyroid USS/scintigraphy (to differentiate dysgenesis from others) Levothyroxine AS EARLY AS POSSIBLE. Monitor TSH + T4 every 1-2mo 1y, 2-3mo 1-2yo, 4-6mo >2yo. Mainatin T4 in upper half of NR, TSH in lower half Transient hyperthyrotropinaemia: slightly elevated TSH with normal T4, transplacental tranmission of maternal Abs, resolves spontaneously, monitor

Chronic pancreatitis

Follows repeated episodes of acute pancreatitis. CF, congenital ductal anomalies, sclerosing cholangitis, hyperlipidaemia, hypercalcaemia. DM, steatorrhoea USS/CT: pancreatic calcifications confirm diagnosis. AXR, MRCP are alternatives Faecal elastase Treat acute episodes as for acute pancreatitis, give enzyme replacement and ADEK supplementation

Renal Tx

For all G4-5 CKD Absolute CI: cancer with mets Temporary CI: infection, HIV with viral replication, unstable CVD Relative CI: CHF, CVD DR>A>B. Mismatch of HLA1 may cause hyperacute rejection (minutes-hours, due to preformed Ab) KIDS minimium 10kg or when immunisations complete Living donor, Donor after Brain Death (DBD), Expanded Criteria Donor (ECD - older pt with CVA, HTN or CKD, poorer prognosis but better than dialysis), Donor after Cardiac Death (DCD - risk of delayed graft function) MAbs: basiliximab, daclizumab, alemtuzumab. Used for induction Calineurin inhibitors: tacrolimus, ciclosporin. Narrow TI, dependent on P450, measure drug levels. Nephrotoxic Antimetabolites: MMF>azothioprine Steroids: used to treat acute rejection, but not long-term immunosuppression due to SE Complications Surgical: bleed, thrombosis, infection, urinary leaks, lymphocele, hernia Delayed graft function (40%) Acute rejection (<15%): Ab mediated (rare) or cellular (common). Presents as reduced renal function, diagnose by biopsy. Treat with high dose steroids and increased immunosuppression Chronic rejection (4%/y): Ab-mediated, presents as progressive graft dysfunction. Treatment complex Infection: give prophylactic CMV+PCP treatment for >=6mo Malignancy: skin, post-transplant lymphoproliferative disorder (PTLD), gynaecological CVD risk: HTN, NODAT (new onset DM after Tx)

Protein-losing enteropathy

GI infection, severe food hypersensitivity, coeliac/IBD, severe cardiac failure, SLE/GVHD, polyposis Hypoalbuminaemia +/- diarrhoea, abdo pain Raised faecal A1-antitrypsin confirms Rx cause, may need albumin infusions

Paediatric HIV infection

GI: chronic diarrhoea, FTT CNS: delayed development, CP Recurrent bacterial and viral ifection Lymphadenopathy, hepatosplenomegaly Opportunistic infections: PCP, Candida, HSV, VZV, atypical mycobacteria Resp distress: cough, hypoxaemia, b/l nodual infiltrates on CXR Avoid live vaccines, get on HAART and PCP prophylaxis ASAP

Cirrhosis

Irreversible liver damage, seen as a loss of normal liver architecture with bridging fibrosis and nodular regeneration Most commonly chronic alcohol use, HBV/HCV Rarely: genetic disorders (alpha1-antitrypsin deficiency, haemochromatosis, Wilson's), Budd-Chiari, NASH, autoimmune (PSC, PBC, AIH), drugs (amiodarone, methyldopa, methotrexate) Leuconychia (undemarcated lunulae from hypoalbuminaemia), Terry's nails (proximal white, distal 1/3 telangiectasias), clubbing, palmar erythema, hyperdynamic circulation, dupuytren's contracture, spider naevi, xanthelasma, gynaecomastia, atrophic testicles, loss of body hair, parotid enlargement (alcohol), hepatomegaly (or small liver in late disease), ascites, splenomegaly Hepatic failure: coagulopathy, encephalopathy, hypoalbuminaemia, sepsis, spontaneous bacterial peritonitis, hypoglycaemia Portal HTN: Ascites, splenomegaly, portosystemic shunts (caput medusae, oesophageal varices) LFTs all high indicate hepatocellular disease/cirrhosis. increased INR/hpoalbuminaemia indicate loss of function. Reduced WCC/platelets indicate hypersplenism Aetiology: ferritin/TIBC, hepatitis serology, Igs, auto-Ab (ANA, SMA, AMA), alpha-fetoprotein, caeruloplasmin, alpha1-antitrypsin Uss: small liver/hepatomegaly, splenomegaly, liver lesions, hepaatic vein thrombus, portal vein reversed flow, ascites MRI: increased caudate lobe size, smaller islands of regenerating nodules and right posterior hepatic notch indicate alcohol>viral Ascitic tap: MC&S, neutrophils >250 indicates SBP Liver biopsy: confirm diagnosis. Now transient elastography (fibroscan) is preferred Severity assessed by child pugh or MELD score General: good nutrition, avoid alcohol, NSAIDs, sedatives and opiates. Colestyramine may help pruritus. Consider USS +/- alpha-fetoprotein to screen for HCC every 6mo, endoscopy to check for varisces Ascites: Fluid restriction (<1.5L/d), salt restriction (40-100mmol/d). Spironolactone (helps deranged RAAS), weight monitoring (<=.5kg/d). Consider adding furosemide. Track U+E (esp. Na), consider therapeutic paracentesis and albumin infusion SBP: usually E.coli, Klebsiella and strep. Treat with Cefotaxime. Prophylaxis if ascitic albumin<15 or previous episode - ciprofloxacin OD Encephalopathy: consider propylactic lactulose and rifaximin Beware of renal failure - HRS and IgA-type glomerulonephritis (lack of IC breakdown in liver) Criteria for Tx: advanced cirrhosis of any cause and/or HCC fulfilling milan criteria (1 nodule <5cm or <= 5 nodules <3cm) 5yr survival 50%, worse if encephalopathy, Na<110, albumin<25, high INR

Juvenile idiopathic arthritis

JIA. Diagnosis of exclusion. <16yo for >6w Limp, stiffness (rarely volunteered - like a little old person in morning), loss of function, pain, malaise. Onset gradual. May not have pain, infant may be 'irritable'. Worse after rest/inactivity O/e: arthritis Rarely leads to amyloidosis Systemic (aka Still's disease): 2-3yo, joint involvement late. Daily fever, returning to normal between attacks. Salmon pink macular/urticarial rash on chest, trunk and inertrigones - present when warm and disappear within minutes. Myalgia, arthritis/arthralgia (oligo or poly). Generalised lymphadenopathy, hepatosplenomegaly and polyserositis. Screen for malignancy. Rx steroids>MTX Oligoarticular: commonest. Affected leg may overgrow, mild symptoms. Can develop silent blinding uveitis if ANA +ve RhF+ve polyarthritis: symmetrical, rheaumatoid nodules, prediliction for wrists and PIPs. Hip involvement aggressive leading to early hip replacement. Tenosynovitis around fingers and ankles. Fever, hepatoplenomegaly, lymphadenopathy, serositis. Uveitis rare but dry eyes/episcleritis common. Rx DMARDs (MTX first line) aggressively to prevent joint replacement RhF-ve polyarthritis: may have mild fever, transient rash. Asymmetrical, any joints, tenosynovitis, accelerated bone growth of affected limbs (chronic hyperaemia), flexion contractures at elbows, knees and hips. Rx DMARDs Psoriatic: strong genetic predisposition. Arthritis + psoriasis or arthritis + dactylitis/psoriatic nail changes + 1st deg FHx of psoriasis. Cannot be RhF+ve, HLA-B27+ve in male >6yo, systemic arthritis. Rash precedes arthritis, asymmetrical large>small joint. Predominantly plaque psoriasis. Blinding uveitis Enthesitis-related: SIJ tenderness, inflammatory spinal pain, HLA B27 +ve, 1st deg FHx of uveitis, age >6yo. M>F, arthritis predominantly LL, enthesitis around foot (heel pain common presenting symptom). Low grade fever, weight loss, fatigue. Uveitis. Associated w/ IBD and reactive arthritis. Schober test XR - as for AS, with SIJ degeneration->fusion, syndesmophytes and calcaneal spur. May have Romanus lesions FBC: mild anaemia, thrombocytosis. ESR/CRP normal or slightly elevated Regular daily aerobic and RoM exercises. Night splints. NSAIDs/intraarticular steroids and methotrexate. Etanercept if refractory. Screen for uveitis

Nephrolithiasis

KIDS Infective most common cause (proteus staghorn calculi) Classic symptoms uncommon, usually asymptomatic w/ gross/microscopic haematuria and sensation of 'having passed gravel' Rx only ESWL, surgery rarely indicated Lifetime risk: 12% men, 7% women RF: age (20-50yo), sex (M>F, testosterone raises hepatic oxalate production), race (caucasians, asians), genetics (familial RTAs, cystinuria, MSK), fluid balance (reduced fluid intake, higher temperatures), diet (high protein = high oxalate, low citrate. high salt/vitD leads to calciuria), occupation (sedentary) In order of frequency: calcium oxalate, uric acid, calcium phosphate+oxalate, Struvite (magnesium ammonium phosphate), Cystine, pure calcium phosphate. Rarer stones: indinavir, triamterene, xanthine Radio-opaque: calcium Relatively radiolucent: struvite, cystine Completely radiolucent: urate, indinavir, triamterene, xanthine Staghorn calculi: usually struvite due to urease producing bacteria. Rarely urate, cystine, calcium oxalate Ksp=solubility product. concentration above this precipitates crystals in vitro Kf=formation product, conc above this causes stone formation. >Ksp due to stone inhibitors (eg citrate complexes with Ca) Ksp-Kf=metastable Crystal formation starts with nucleation on epithelium, then aggregation. CaOx requires CaP nucleus CaOx: hypercalciuria (steroids), hypercalcaemia, hyperoxaluria (short bowel syndrome/IBD - exposes colon to bile salts, vitC, high protein intake), hypocitraturia (hypokalaemia, acetazolomide, RTA1), hyperuricosuria (can form nucleus) Urate: insoluble in acidic pH. GOUT, tumour lysis syndrome CaP: Insoluble in alkaline pH. RTA1+II Struvite: Insoluble in alkaline pH >7.2. Bacteria produce ammonia, raising pH (Proteus, Klebsiella, Serratia, Enterobacter Cystine: Insoluble in acidic pH. Cystinuria Asymptomatic. Flank pain + haematuria. If struvite staghorn, recurrent UTIs and possibly pyonephrosis, perinephric abscess, XGP, urosepsis FBC, U+E, Ca, urate, MSU+urinalysis Urine pH: should be 5-7, <5.5 after meals, >6.5 between (alkaline tide) AXR, CTKUB, USS: CTKUB detects all except indinavir stone, for which IVU is useful Watchful waiting: in older, asymptomatic patients. even small stones in young patients should be treated. Pilots, air traffic control, lorry/bus driver must be stone-free. Not suitable for struvite stones, which will destroy the kidney ESWL: electrohydraulic (spark in water causing shockwave), electromagnetic (movement of magnetic field causing sw), Piezoelectric (spherical ceramic disc expanding with current). Needed GA before, now oral analgaesia sufficient but less efficient. For stones <1cm (to avoid steinstrasse) not in lower pole/diverticulum (poor drainage), not CaOx/cystine (v. hard) SE: renal damage/reduced renal flow (MAG3), haematuria, oedema, steinstrasse. 0.5% get perirenal haematoma. ?DM/pancreatic damage CI: pregnancy, coagulation disorders, RAS May leave clinically insignificant residual fragments (CIRFs) defined as <4mm ISWL: electrohydraulic (very damaging, only used for bladder stones), pneumatic (ball hits probe in contact with stone, for ureteric stones), US (opera glass effect, for renal stones during PCNL), laser (Holium:YAG, very effective, most used). Laser requires ureteroscopy, used for stones <2cm. May be only option for patients with obesity or horseshoe/ectopic kidneys PCNL: ureteric catheter inflates renal pelvis/calyces with fluid, allowing for easier percutaneous puncture (under 12th rib, into posterolateral calyx to avoid renal artery branches closely related to pelvis). Nephroscope pushed through puncture, with US ISWL used to fragment stone. Usually GA. Used to leave nephrostomy in post-op, now ureteric drainage sufficient For stones >3cm, staghorn calculi (may need post-op ESWL for residuals). Also for any stone that fails ESWL and ureteroscopic ISWL Open stone surgery: stones in multiple calyces, gross obesity, retrorenal colon, PCNL failure. Medium sized stones-pyelolithotomy, radial nephrolithotomy. Staghorn-Anatrophic/avascular nephrolithotomy, extended pyelolithotomy with radial nephrotomies, excision of kidney + 'bench' removal of stones + autoTx Medical dissolution therapy: For urate, high fluid intake + alkalisation (potassium citrate or NaHCO3) + allopurinol + diet modification. Can dissolve even staghorns. For cystine, dietary modification, alkalinisation, drugs (D-penicillamine, N-acetyl-D-penacillamine, mercaptpropionylglycine, captopril - all bind to cystine, increasing solubility)

DM

KIDS OGTT 1.75g/kg. Test if obesity (>98th), acanthosis nigricans, T2DM FHx, Asian/Afro-Caribbean/black, PCOS, HTN T1DM 2 peaks, 5-7yo and just before puberty T1DM: can occur at any age, but usually adolescent onset. Due to autoimmune destruction of beta cells (anti-islet cell/insulin/GluAD/IA2), >90% HLA-DR3 or DR4. Insulin dependent LADA: T1DM but with slower progression, insulin dependence only late in life T2DM: reduced insulin secretion with increased insulin resistance. RF: male, asian, >40yo, obesity, lack of exercise, calorie and alcohol excess, strong genetic component MODY: rare AD form of T2DM affecting young people. 60% MODY3 (HNF1alpha mutation, adolescence, severe hyperglycaemia, associated with HCC), 20% MODY2 (glucokinase mutation, early childhood, mild diet-ameanable hyperglycaemia), 5% MODY1 (HNF4alpha, like MODY3), MODY 4/5/6 (post pubertal, rare, severe DM) Acquired DM Drugs: steroids, HAART, newer antipsychotics Pancreatic: pancreatitis, surgery (>90% pancreatectomy), trauma, pancreatic destruction (haemochromatosis, CF), pancreatic cancer Endocrine: Cushing's, acromegaly, phaeochromocytoma, hyperthyroidism, pregnancy Others: congenital lipodystrophy, glycogen storage diseases Diagnostic criteria Symptomatic (polyuria/nocturia/enuresis, polydipsia, weight loss, visual blurring, genital thrush, lethargy) AND raised venous glucose once (fasting >=7, random >=11.1) OR Raised venous glucose twice, 2 of: fasting>7, random>=11.1, OGTT 2h >=11.1 OR HbA1c>=48 (avoid in pregnancy, children T1DM, haemoglobinopathies) IGT: fasting<7 AND OGTT 7.8-11.1 IFG: fasting 6.1-7 AND OGTT<11.1 Complications: Macrovascular (stroke, MI, PAD) - nevere children/adolescents, microvascular (nephropathy, neuropathy, retinopathy) - may occur after puberty. Annual screening begins from 11yo or 9yo if DM>5y (3 early morning ACR, retinal photography) Hypoglycaemic unawareness: recurrent hypoglycaemia leads to loss of warning symptoms, avoidance will restore Nocturnal hypoglycaemia: 50% of T1DM, early morning BMs consistently high (counter-regulation). Confirm w/ CGMS Acute hypoglycaemia: PO glucose buccal gel for uncooperative child. All give 1mg glucagon IM injection kit for severe episode Urine dip: ketonuria, glucosuria T1DM Auto-Abs: ICA, anti-GluAD, IAA, anti-IA2 Screening: test for TFTs, anti-thyroid Abs, Coeliac annually General: diet (low sat fats, sugar, high starch/carbohydrate, moderate protein), weight control, exercise. High intensity statin, control HTN, give foot care, eye/kidney screening. If loss of vision or hypoglycaemic spells/unawareness (for group 1 more than one, for group 2 any within 12mo), inform DVLA and stop driving. target BP in T1DM <135/85. If albuminuria or >=2 criteria for syndrome x, <130/80. ACEi 1st line. In T2DM <140/80, or <130/80 if kidney, eye or cerebrovascular damage. ACEi first line except afrocaribbeans (ACEi+CCB/diuretic) and pregnant (CCB) T1DM (HbA1C<48 BM 4/5-7, monitor 3-6monthly. offer metformin if BMI>25) Nonpharma: advise to avoid binge drinking (delayed hypoglycaemia), 24/7 nurse phone support. Teach about calorie counting and fingerprick monitoring (>=4/d). Advise that illness may increase insulin requirements, so maintain calorie intake and insulin usage, check BM >=4times/d, look for ketonuria and seek help if signs of DKA Pharma (90deg to skin, adjust dose with dial, switch injection sites) Ultra-fast acting (Humalog/lispro, Novorapid/aspart): inject at start or just after meal. Match to meal Intermediate acting (NPH/isophane insulin): peaks at 4-12h Pre-mixed (Novomix 30 - 30% SA, 70% LA) Long acting (insulin glargine, insulin detemir): given once before bedtime BD biphasic regimen: twice daily pre-mixed insulin. For T2DM and T1DM with regular lifestyle. 2/3 at breakfast, 1/3 at dinner. Between meal snacks required to minimise hypoglycaemia TDS regimen: SA/IA mix at breakfast, SA or RA at dinner, IA at bedtime. Reduces frequency of nocturnal hypoglycaemia QDS/basal bolus regimen: ultra-fast before meals, long acting at night. For T1DM with irregular lifestyle. Requires regular BMs OD regimen: one long acting before bed. Used when switching from tablets to insulin for T2DM. titre dose up to >=1u/bmi/24h. Can stay on metformin and pioglitazone if unable to move to BD Continuous SC insulin pumps (CSII) are a final-line therapy for those with hypoglycaemia problems or refractory blood sugar levels. Still have to add extra with meals and count calories, but reduces incidence of hypoglycaemia T2DM (HbA1c target 48 or 53 if on non-metformin drug. Check 3-6mo, 6mo if stable) Metformin: increases insulin sensitivity DPP4i/gliptins: sitagliptin Glitazone: pioglitazone, increases insulin sensitivity Sulfonylurea: increases insulin secretion SGLTI: glifazon, increases urinary glucose Start with lifestyle advice Then metformin If HbA1C>58, add DPP4i, glitazone, SU or SGLTI If HbA1C still >58, 3 options 1 Metformin+DPP4i/glitazone+SU 3 Metformin+SU/glitazone+SGLTI 4 insulin-based therapy If triple therapy not tolerated, try metformin+SU+GLP analogue (exenatide, liraglutide - SC, BMI>35 w/ comorbidities or BMI<35. Must show HbA1C reduction and weight loss to continue) If metformin not tolerated, switch to gliptin, glitazone or SU. If still HbA1C>58, add any of the other 2 In pregnancy/gestational DM: increased risk of miscarriage, pre-term labour, pre-eclampsia, congenital malformations, macrosmia, worsening of diabetic complications. Discontinue all oral hypoglycaemics except metformin and insulin (safe in pregnancy)

Epiglottitis

Life-threatening epiglottis swelling and sepsis due to Hib infection in 1-6yo. Now rare due to immunisation Onset over hours w/o prodrome. Only slight if any cough w/ open mouth drooling saliva. V. sick toxic infant >38.5deg fever, soft stridor w/ weak/silent voice DO NOT EXAMINE THROAT Keep kid calm and alert ENT for emergency intubation. Then ITU admission, blood cultures, IVAbx (cef 7-10d), rifampicin to close contacts

Brain tumour

Low grade glioma: most pilocytic astrocytoma - cerbellum (good outcomes, resectable) and optic pathway (poor outcomes, inaccesible) High grade glioma: usually older kids/teenagers, supratentorial. Poor outcome, as complete resection difficult Diffuse brainstem glioma: high grade inoperable glioma of pons, survival <1y Primitive neuroectodermal tumours (PNET): most common malignant brain tumour of childhood, majority cerebellum (medulloblastoma), <5yo w/ 10-15% trans-CSF mets. If localised curable, but morbidity from RT Ependymoma: periventricular sites, presenting with obstructive hydrocephalus, 10% met to spine. Excise + RT (chemo to delay RT in young pt), 70% survival CNS germ cell tumours: rare, teenage males. Suprasellar or pineal, 60% germinoma (better prognosis), 40% non-germinomatous GCT. In younger, mature teratomas. Secrete AFP or hCG in serum or CSF. Surgery for teratoma, chemoRT for others Craniopharyngioma: slow-growing suprasellar from Rathke's pouch. Rx resection + focal RT

Ebstein's anomaly

Low insertion of tricuspid valve causing atrialisation of RV. Associated with TR (pansystolic murmur, giant V waves in JVP), Wolff-Parkinson White syndrome Caused by Li exposure in utero

Cryptosporidium

Apicomplexian protozoa. Oocysts ingested in water. Oocysts visualised with acid fast stain Causes self-limiting diarrhoea (watery) in immunocompetent HIV Cryptosporidium Common cause of chronic watery diarrhoea pre-ART, cholangitis, pancreatitis. Stool microscopy (multiple, as oocyte excretion intermittent), PCR, ELISA, IF. Treatment is supportive, ART, erythromycin, metronidazole or spiramycin

Congenital MG

Mainly AR mutations in release, receptors or recycling of ACh. Rarely due to transfer of maternal MG Abs Neonates: arthrogryposis +/- bulboresp insufficiency, facial/limb girdle weakness, laryngeal palsy (rare, usually due to CMG) Responds to Tensilon/edrophonium test

Tinea (pityriasis) versicolor

Malassezia yeast infection of young adults. Produce azelaic acid inhibiting melanogenesis, preventing skin from tanning RF: hot humid climates, hyperhidrosis, oily/greasy skincare products, steroids/Cushing's, immunosuppression, malnutrition Asymptomatic trunk brownish red or hypopigmented macules of varying size with dusting of fine scale (cf vitiligo) (scrape gently to see). Originally darker with infection, but then when skin tans are seen as infected regions remain paler Wood light: infected skin fluoresces yellow (not all Malassezia, but most) Scrape microscopy: 'spaghetti and meatballs' hyphae and spores Localised few lesions: topical imidazole, miconazole, ketoconazole or clotrimazole Diffuse: ketoconazole shampoo as body wash (leave on for 5min) for 5d (drying, give emollient), ketoconazole foam OD 7d, PO itraconazole 5-7d Relapse common, consider 3d of prophylactic ketoconazole shampoo before hot summer

SIADH

Malignancy: SCLC, pancreas, prostate, thymus, lymphoma CNS disorders: meningoencephalitis, abscess, stroke, SAH/subdural, head injury, neurosurgery, GBS, vasculitis, SLE Chest: TB, pneumonia, abscess, aspergillosis Endocrine: hypothyroidism (not true SIADH, due to low CO) Drugs: opiates, carbamezapine, SSRI/TCAs, cytotoxics (vincristine, cyclophosphamide) Other: AIP, trauma, major thoracoabdominal surgery, symptomatic HIV Congenital: agenesis of corpus callosum Criteria Na <135, plasma osmolality <270, urinary Na >20, euvolaemic, increased plasma ADH Fluid restriction, treat cause. Salt+fluid diuretics if severe. tolvaptan/demeclocyline if refractory

Neuroblastoma

Malignant embryonal tumour from neural crest tissue, presenting ~2y at the adrenal glands (most common) or along sympathetic chain (abdo>thorax>pelvis>neck). Due to n-MYC mutation Non-specific and variable presentation. Palpable mass (painless), compression of nerves (Horner's, SCI)/airway/veins/bowel Bone: pain and/or limp Lymphadenopathy, signs of pancytopenia. Sweating, pallor watery diarrhoea, HTN Urinary catecholamine (VMA or HVA) to creatinine ratio: raised in >80% I-MIBG uptake Complete resection is curative. If incomplete, chemo/RT with autologous BMT rescue and cis-retinoic acid differentiation therapy if severe. Good prognosis if localised, poor if disseminated. MYCN poor prognostic sign Infant neuroblastoma: disseminated disease restricted to BM liver and skin, characteristically resolving spontaneously

Mesenteric adenitis

MeA, mimics acute appendicitis. Due to intercurrent viral infection causing inflammed mesenteric LNs. Fever, malaise, central abdo pain Period or observation. If symptoms remain static or improve, cannot be appendicitis (by definition progressive). Cause of majority of normal appendicectomies

Micropenis

Measure from pubic tubercle to tip of stretched penis, normally >3cm Micropenis = <2.2-2.5cm depending on ethnicity Urology referal, IM testosterone or topical DHT may help

Other renal tumours of childhood

Mesoblastic nephroma: infants, Rx surgery, chemotherapy if not complete excision Clear cell sarcoma: bone metastasising renal tumour, more aggressive than Wilms Malignant rhabdoid tumour: rare, infants, associated with posterior fossa CNS tumours

Healthy diet

No solids or gluten until 6mo (reduces food allergies), initially baby rice, fruit, vegetables - should progress through wide variety of tastes and appropriate textures Finger foods from 7mo. Do not add salt or sugar to food, avoid low fat products. Complementary breast/formula feeds until 1y, then transfer to full fat cow's milk (semi-skimmed at 2y, skimmed at 5y) Supplemental vitA, C, D until 5yo IDA: restrict milk intake 1pint/d. Give cereal, dried fruit, red meat, egg yolk, beans. Add vitC as fruit juice to aid absorption, avoid tea w/ meals (reduces absorption) or excessive juice consumption (chronic diarrhoea of childhood/toddler diarrhoea, feeding problems) Later - 1 starchy food w/ each meal, 5 a day, 2 meat/fish servings, 2-3 skimmed milk, cheese, low-fat yoghurt, fromage frais

Tricuspid atresia

No connection between RA and RV, so patent foramen ovale and VSD/PDA required for life First days/months with increasing cyanosis. ECG - superior axis Acutely, prostaglandin E infusion Neonatal: Blalock-Taussig shunt, pulmonary artery banding 6mo: Glenn shunt Pre-school: Fontan procedure

Achalasia

No coordinated peristalsis, LES fails to relax. Due to idiopathic degeneration of myenteric plexus Dysphagia, regurgitation, weight loss, FTT, aspiration Manometry/barium swallow shows dilated, tapering oesophagus Endoscopy to exclude malignancy Medical: Botulinum injections every few months, CCBs (nifedipine short-term Rx) and preprandial amyl nitrate before meals to relax LES Treat with repeated endoscopic balloon dilatation or Heller's cardiomyotomy/cardioplasty, then PPIs. Bypass procedures if refractory

Pseudohypoparathyroidism

No response to PTH (eg. receptor mutation) Albright hereditary osteodystrophy: Short metacarpals (esp 4/5th), round face, short stature. All but 1b subtype Calcified basal ganglia, low IQ Low Ca, high PTH, normal or high ALP. Treat with Ca+calcitriol

Normal lower limb variants

Pes planus: all ages, absent medial arch on standing, typically resolves by 4-8yo, reassurance In toeing: 1st year. Can be due to metatarsus adductus Abnormal heel bisector line, 90% resolve spontaneously, otherwise serial casting), internal tibial torsion (spontaneously resolves), femoral anteversion (W sign, resolves 80% by adolescence, even if not surgery not advised) Out toeing: common early infancy, resolves by 2yo usually due to external tibial torsion, increased risk of patellofemoral pain Genu varum: 1st-2nd year, increased intercondylar distance, resolves by 4-5yo Genu valgum: 3rd-4th year, increased intermalleolar distances, resolves spontaneously

Paediatric (<2yo) SDH

Once previous neurosurgery or infection excluded, highly suggestive of NAI ACUTE Encephalopathy: irritability, inconsolable crying, unsettled behaviour, lethargy, meningism, reduced or increased tone, seizures, impaired LoC Vomiting, poor feeding, breathing abnormalities/apnoea, pallor, shock, tense fontanelle CHRONIC Expanding HC, vomiting, FTT, neuro deficits Retinal haemorrhages: strongly suggestive of NAI, frequently also vitreous haemorrhage. Get ophthalmologist to confirm. Seen in 75% vacuum-assisted deliveries, 33% NVD, resolving by 2w (latest 6w) #s: may be missed by CT, so do plain film. Skull does not heal by callous formation, so dating difficult. If depressed or branching, crossing or stellate - NAI (accidental tend to be linear, parietal, over vertex). Typical non-skull NAI #s are the bucket-handle and corner type metaphyseal #s due to twisting limb (can also occur with birth injury n breech extraction) Initially CT, but then MRI (CT misses smaller bleeders). Blood along tentorium, interhemispheric, and multiple sites w/different densities are characteristic of NAI. Sequential imaging required, as initial clot not impressive but subsequent haematoma oedema can be drastic, peaking at 2-4w After this encephalomalacia w/ atrophy (well established by 2-3mo) BEWARE!! Glutaric aciduria type 1 (GA1 - check urinary organic acids) and some coagulation disorders can cause SDH and retinal haemorrhage (but importnatly not fractures or malicious injury)

Panner's disease

One of the osteochondroses. Avascular necrosis of ossific nucleus of capitellum with subsequent regeneration Male <10yo presenting with lateral elbow pain and swelling Conservative treatment (NSAID, splint), occasionally arthroscopy

Sever's disease

One of the osteochondroses. Common calcaneal apophysitis from strained attatchment of achilles tendon Typically 8-13yo presenting with pain behind heel and limping (bilateral 60%), and tenderness over lower calcaneal tuberosity. XR normal Usually self-limiting (5w duration). PT and heel raise. Below-knee walking plaster can give pain relief

Perthes'

One of the osteochondroses. Idiopathic avascular necrosis of femoral head. Subsequent healing/remodelling causes abnormal ossification and epiphyseal deformation 3-11yo, male, bilateral in 10-15%. Classically 'painless limp', but may be mild intermittent pain in hip or knee (referred) and limp. Proximal thigh atrophy, mild short stature. May have effusion and groin tenderness. Limited ROM of hip, especially internal rotation and abduction Complications: OA, premature physeal fusion XR/MRI: first show joint space widening, then decreased femoral head size with patchy densities. Eventually collapse/deformity of femoral head with new bone formation. Gage's sign pathognomonic Stages: 1-none, 2- sclerosis, 3-loss of structural integrity of femoral head, 4- loss of acetabular integrity Tc Bone scan: reduced uptake due to reduced vascularity Bedrest and NSAIDs until pain free, then PT - many will go on to get OA or require femoral/pelvic osteotomies. May require braces/cast to keep head in acetabulum. <6yo conservative, >6yo surgical

Osgood-Schlatter disease

One of the osteochondroses. Tibial tuberosity apophysitis affecting males 10-15yo. Repeated traction causes chronic avulsion of secondary ossification centre of tibial tuberosity, leading to inflammation Associated with overuse. Presents with pain below knee worse on strenuous activity and quadriceps contraction. Tuberosity enlarged and tender XR: enlarged tibial tuberosity + fragmentation MRI: tendonitis Self limiting in >90%. Limit activity, ice, oral anti-inflammatories, knee padding, PT. If refractory and skeleton mature, tibial tubercle excision

Sinding-Larsen-Johansson Disease

One of the osteochrondroses. Distal patellar apophysitis affecting 8-10yo. Repeated traction causes chronic avulsion of secondary ossification centre of patella, leading to inflammation Self limiting in >90%. Limit activity, ice, oral anti-inflammatories, knee padding, PT. If refractory and skeleton mature, tibial tubercle excision

Transverse myelitis

Onset within hours/days of weakness +/- back pain, anaesthesia, urinary/bowel dysfunction, within 1w of minor viral presentation. At first hypotonia/reflexia, then tone and reflexes gradually increase MRI spine confirms Immediate admission, monitor resp status, PT/OT to avoid joint contracture Rx: methylpred IV for 3d. If refractory, consider immunosuppression

Epididymo-orchitis

Orchitis: uncommon. Fever, testicular pain. 20% of mumps cases. u/l 70%, 30% c/l involvement a few days following. Almost always prepubertal boys. Epididymitis: usually concomitant b/l orchitis. Typically due to UTI, infected urine refluxes down vas deferens. Exclude renal structural abnormality. Fever, urinary symptoms, scrotal pain. In sexually active, N. gnorrhoea or Chlamydia. Culture urine, then Abx. If teenager screen for STI

Kohler's disease

Osteochondrosis affecting the navicular bone in 3-5yo. Presents with midtarsal pain and limp. XR shows dense, deformed bone. Rest foot/wear walking plaster - excellent prognosis

Freiberg's disease

Osteochondrosis of lesser metatarsal heads (usually 2nd) Presents at puberty with forefoot pain worsening with pressure (running, dancing), joint tenderness, reduced RoM, pain on tiptoes XR: metatarsal head epiphyseum becomes granular, fragmented and flattened Good shoes, metatarsal pad, limit activity for 4-6w If severe, consider intra-articular steroids +/- excision of affected bone with remodelling

Obesity

Overweight: BMI>91st centile <98th Obese >98th Most commonly lifestyle. Also Asian, female, tall Pathology: GH deficiency, hypothyroidism, Downs, Cushings, Prader-Willi syndrome May be due to catch-up growth for SGA babies COMPLICATIONS Ortho: SUFE, Blount's disease, MSK pains Poor self esteem, bullying, sleep apnoea, BIH Long term: T2DM, HTN, IHD If overweight, consider tailored intervention. If obese, consider assessing for comorbidities Management - reduce intake, education, behavioural modification, family therapy

Blood transfusions

Packed red cells: to correct anaemia/blood loss. 1u increases Hb by 10-15, aim for Hb of 80. KIDS packed cell volume (ml) = desired rise in Hb (g/dL) * weight (kg) * 4 Platelets: only needed if bleeding or count <20. 1u increases plt by >20, if not refractory cause (eg ITP) FFP: corrects clotting defects in DIC, warfarin overdosage, liver disease, TTP HAS: used in hypoproteinaemic pts and in paracentesis Others include cryoprecipitate (fibrinogen), coagulation concentrates (for haemophilia) and Ig CMV-ve blood: for IU transfusion, neonates/infants <1yo Irradiated blood: as above + SC harvest for autografts, allogeneic BMT, Hodgkin lymphoma, pts recieving purine analogues (fludarabine), DiGeorge Acute transfusion reactions Acute haemolytic reaction: due to ABO/Rh incompatibility. Rapid onset agitation, fever, hypotension, flushing, abdo/chest pain, oozing venepuncture sites, DIC. STOP transfusion, check identity/name on unit, send unit+FBC, U+E, clotting cultures and urine to lab. Keep IV open with saline, treat DIC, seek haematologist Anaphylaxis: STOP transfusion, treat Bacterial contamination: fever, hypotension, rigors. STOP transfusion, check identity/name on unit, send unit + FBC, U+E, clotting, cultures and urine to lab. Start broad-s[ectrum Abx, contact haematologist TRALI: ARDS due to antileucocyte Abs in donor blood. Dyspnoea, cough, CXR, 'white-out'. STOP transfusioin, treat ARDS. Remove donor from registry Non-haemolytic febrile transfusion reaction: shivering and fever 30-60min after transfusion. SLOW or STOP infusion. Give antipyretic (paracetamol) and observe. If recurrent, use WBC filter Allergic reactions: urticaria, itch. SLOW or STOP transfusion, chlorphenamine 10mg slowly IV/IM and monitor Fluid overload: dyspnoea, hypoxia, tachycardia, raised JVP and basal creps. STOP or SLOW transfusion, give O2 and diuretic, consider CVP line Chronic transfusion reactions Infection (HepB/C, HIV, bacteria, protozoa, prions), iron overload, GVHD (in immunosuppressed, where leucocytes can 'engraft', >90% mortality, irradiate blood to prevent), post-transfusional purpura (potentially lethal fall in plt 5-7d post-transfusion requiring specialist treatment with IVIg and platelet transfusion Massive blood transfusion is all blood volume (>10u) in 24h. Can cause thrombocytopenia, hypocalcaemia, reduced clotting factors, hyperkalaemia, hypothermia. If CHF with Hb<50, give packed red cells (1u/4h) with furosemide. Check regularly for fluid overload, consider CVP line. Autologous transfusion possible, especially with intraoperative cell salvage

Other trisomies

Patau: T13, holoprosencephaly, SGA, microcephaly, micoroophthalmia, cleft lip/palate, CHS (ASD/VSD), renal anomalies (fused kidneys, postaxial plydactyly, severe LD Edwards: T18, SGA, CHD (VSD +/- valve dysplasia), short sternum, overriding fingers, rocker bottom feet, life expectancy 4d

Pericardial effusion

Pericarditis, myocardial rupture (trauma, surgery, MI), aortic dissection, malignancy hiccups (phrenic n) nausea (diaphragm), Ewart's sign (left lower lobe) due to compresion. Muffled heart sounds CXR: globular heart ECG: low voltage, electrical alternans echo: echo free area surrounding heart pericardiocentesis (culture, ZN stain, cytology) Treat cause

Meckel's diverticulum

Persistent embryonic vitelline (omphalomesenteric) duct that normally involutes in late foetal development. Contains ectopic ileal, gastric or pancreatic mucosa. 2% prevalence, 2 feet from ileoceacal valve, 2 inches long, majority asymptomatic. Can cause GI bleeding (painless fresh PR bleeding sufficient to cause Hb drop), obstruction (due to omphalomesenteric band - volvulus and intussusception), inflammation (mimics appendicitis), umbilical discharge Tc-pertechnate isotope scan can sometimes detect If persistent/recurrent bleeding or narrow neck requires laparotomy + resection (wedge excision or formal small bowel resection + anastamosis), even if scan -ve. Diverticulitis or perforation clinically indistinguishable form acute appendicitis

Ewing's sarcoma

Round cell tumour of diaphyses of long bones and limb girdles (pelvis most common), presenting in adolescents with non-mechanical bone pain, night pain, then swelling and pathological fractures XR: bone destruction with new bone formating in concentric layers ('onion ring' sign), soft tissue swelling, periosteal elevation Biopsy: definitive. Chromosomal analysis reveals t(11;22) CT chest: for lung mets Chemo, radio and surgery. If mets at presentation, 22% 5y survival. If not, 55%

TSS

S aureus, but also Strep, Pseudomonas and Klebsiella. RF: surgical packing, contraceptive sponges, post-partum infection, deep abscess, potentially fatal complication of burns in kids 50% mortality. Sudden onset fever >39deg, myalgia, vomiting, watery diarrhoea, headache, hypotension, altered LOC Diffuse macular erythematous non-pruritic rash starting at trunk and spreading outwards. If vesicles/bullae, probably SSSS or TEN Erythema + oedema of palms and soles, erythema of mucous membranes (no ulceration, c/f TEN) w/ strawberry tongue and conjunctival hyperaemia Organ dysfunction: renal failure, abnormal LFTs, lymphopenia, DIC/thrombocytopenia Diagnosis clinical, cultures usually -ve Resuscitate, IV Abx (inc clindamycin), remove wound dressings + clean + foreign body removal. If severe, IVIg. After 1-2w skin of palms and soles desquamates

Shaken baby syndrome

This syndrome encompasses the triad of retinal haemorrhages, subdural haematoma, and encephalopathy. This is caused by the intentional shaking of a child (0-5 years old). The diagnosis of shaken baby syndrome has often made the headlines due to the controversy amongst physicians as to whether the mechanism of injury is definitely an intentional shaking of a child. This has often resulted in difficulty for the courts to convict suspects of causing shaken baby syndrome to a child.

Tonsillitis

Strep pneumoniae, Strep pyogenes, H. influenzae Sore throat, tonsillar enlargement/exudate, dysphagia, halitosis, otalgia, fever, malaise COMPLICATIONS Airway obstruction: usually EBV, preceded by acute snoring/sleep apnoea Quinsy/peritonsillar abscesss: swelling of soft palate/tissues lateral to tonsil with contralateral uvular deviation. Pt toxic with fetor, trismus and drooling Parapharyngeal abscess: diffuse swelling in neck deep to SCM, requiring formal drainage. May have stiff neck/trismus with tonsil and lateral pharyngeal wall pushed medially Abx (penicillin), simple analgaesia, PO fluids, bed rest. AVOID ampicillin/amoxicillin if EBV suspected Quinsy: FNA or formal drainage, IV Abx Tonsillectomy: required if malignancy suspected or impending airway obstruction. If highly recurrent, may be suggested Post-op: pain severe and common, all require simple analgaesia. Eating unconfortable, but aids recovery, so crisps biscuits and toast. Immediately post-op white exudate appears. THIS IS NOT INFECTION 15% will bleed. Reactive is within hours, necessitating return to OR (all pts stay overnight). Secondary haemorrhage within 2w due to infection. Admit, Abx + IV fluids. Surgical intervention may be required for haemostasis

Impetigo

Superficial infection of normal or eczematous (impetiginised eczema) skin Crusted impetigo: impetigo contagiosa, caused by S. aureus, S. pyogenes or combination. >=1 area of golden honey-coloured crusting and oozing Bullous impetigo: epidermolytic toxins from phage group II S. aureus. Interferes with desmosomes, allowing entry underneath stratum corneum. Thin-walled, flaccid blisters that rupture rapidly NO SYSTEMIC SYMPTOMS Skin swab culture from crusts Topical Abx (fusidic acid or mupirocin) if small, PO (fluclox, erythro) if large. Isolate until all lesions crusted over

CCF

Sweating, breathlessness, tachypnoea, coughing, lung creps, poor feeding (infant), poor weight gain, failure to thrive, hepatomegaly, cardiomegaly, tachycardia/gallop rhythm Usually no 'adult' signs of congestion (oedema, orthopnoea, PND, JVP). May just have SOB, reduced exercise tolerance, confusion (signs of hypoperfusion) at start Rx bedrest, semiupright nursing, diuretics, ACEi

Consent

Adolescent >16yo Adolescent <16yo but judged to be competent Parent/person with PResp Gillick competence: must understand proposal, understand risks/benifits, understand how they apply to them, retain and weigh up info to make decision, ensure decision is made w/o being pressurised If 16-18 or Gillick competent, can consent to and refuse Rx, parents cannot override. Only exception - cannot refuse Rx that is intended to prevent serious harm or death (deemed 'in their best interests) Confidentiality rules for ALL (even incompetent pts) are as with adults, only difference is ability to consent to disclosure

Delayed visual maturation

Appear blind in first few mo, then improve w/ age Isolated DVM: no pathology, rapid full development of vision between 3 and 6mo. Motor development may be delayed DVM with CVI: eg CP may initially appear blind. Vision improves over years but may be impaired DVM with ocular disease: eg cataracts, nystagmus. Interfere with early visual development. Vision improves over years, but may be impaired

UTI

Bacteriuria: bacteria in urine Lower UTI: cystitis, prostatitis Upper UTI: pyelonephritis Abacterial cystitis/urethral syndrome: diagnosis of exclusion - dysuria+frequency without infection/ Can be due to drugs (cyclophosphamide, ketamine) or radiotherapy Uncomplicated: normal tract structure+function Complicated: structural/functional abnormality (obstruction, catheter, stones, neurogenic bladder, Tx kidney) Recurrent: >2 within 6mo or 3 within 12mo. Can be due to bacterial persistence (calculi, chronic bacterial prostatitis) or recurrent infection Protected by urinary IgA, GAGs and Tamm-Horsfall protein, low urinary pH In order of prevalence: E. coli (especially those with pili), S. saprophyticus, P mirabilis, K. pneumoniae, TB Cocci: strep (e. faecalis, S. viridans), staph (S. saprophyticus/aureus/epidermidis), N. gonorrhoea Rods: C. urealyticum, TB, Lactobacillus, C. perfringens, enterobacteriacaeae (E> coli, P. mirabilis, K. spp), P. aeruginosa, B. fragilis Other: C. trachomatic, M. hominus, U. urealyticum (usually with indwelling catheter), C. albicans Aerobes usually cause UTIs, whereas anaerobes (normal commensals) cause abscesses RF Bacterial inoculation: sexual activity, urinary incontinence, faecal incontinence, constipation Bacterial adherence: spermicide, reduced oestrogen, menopause Low urine flow: dehydration, obstructed urinary tract Bacterial growth: DM, immunosuppression, catheter, renal tract malformation, pregnancy Cystitis: frequency, dysuria, urgency, suprapubic pain, haematuria Acute pyelonephritis: fever, rigors, vomiting, loin pain/tenderness, costovertebral angle pain, associated cystitis symptoms, septic shock Prostatitis: Pain in perineum, rectum, scrotum, penis, bladder, lower back. Fever, malaise, nausea, urinary symptoms, swollen/tender prostate on PR TB: cystitis symptoms with sterile pyuria. Also malaise, fever, night sweats, weight loss, back/flank pain, visible haematuria If vaginal discharge, consider PID If catheterised, atypical presentation: fever, flank/suprapubic pain, change in voiding pattern, vomiting, confusion, sepsis INFANT: poor feeding,vomiting, irritability Young kids: abdo pain, fever, dysuria FBC,U+E,CRP/ESR, BM, blood culture (10-25% in pyelonephritis) Urine dipstick: don't do on pregnant or catheterised Urine microscopy: AFS for TB MSU culture: >10^5 cfu, however can diagnose with >100. Use in pregnant women, men, children, refractory to Abx or septic+catheterised. If suspect TB, mycobacterial culture from early morning sample Imaging: USS, referral to urology (cystoscopy, urodynamics, CT) in men with upper UTI, refractory to Abx, recurrent UTI>2/y, pyelonephritis, unusual organism, persistent haematuria <3mo age - refer to paediatrician IVAbx (cefuroxime or gent) >3mo: lower - POAbx 3d (trimethoprim), upper- POAbx (coamox, cefalexin) 7-10d or IV 2-4d then PO 10d. For all, repeat culture INVESTIGATIONS FOR SCARRING and predisposing urinary tract abnormalities USS during acute, USS within 6w, DMSA 4-6mo after acute infection, MCUG <6mo responds to Abx within 48h: NYNN <6mo atypical/recurrent: YNYY 6mo-3y responds within 48h: NNNN 6mo-3y atypical: YNYN 6mo-3y recurrent: NYYY >3y respond within 48h: NNNN >3y atypical: YNNN >3y recurrent: YYYY PO trimethoprim or nitrofurantoin prophylaxis if recurrent UTIs or VUR asymptomatic bacteriuria does not require treatment in non-pregnant women, men and adults with catheters Non-pregnant women: If >=3 symptoms (or one severe) of cystitis AND no vaginal discharge, treat with 3d course of trimethoprim or nitrofurantoin (no tests). If refractory, culture MSU and treat according to sensitivities. If upper UTI, do MSU culture but start treatment immediately with broad-spectrum Abx (co-amoxiclav or ciprofloxacin) Pregnant women: UTI associated with preterm delivery and intrauterine growth restriction. Asymptomatic bacteriuria should be confirmed with second sample, then treated (avoid ciprofloxacin, trimethoprim for 1st trimester, nitrofurantoin in 3rd), then eradication confirmed Men: treat lower UTI with 7d course of trimethoprim or nitrofurantoin. If symptoms suggest prostatitis, give 4w course of ciprofloxacin (penetrates prostatic fluid). If upper UTI, refer Catheterised: All have bacteriuria. If symptomatic (remember atypical), send MSU, change catheter and start Abx TB: treat as pulmonary TB If recurrent with no underlying abnormality refractory to nonpharma, give prophylactic low-dose trimethoprim, nitrofurantoin or cefalexin. Can also use post-coital, or tell woman to start when she feels it coming on

Iron deficiency anaemia

Blood loss: menorrhagia (typically adolescent females), GI bleeding Poor diet/poverty: KIDS. Preterm, LBW, multiple births. Delayed introduction of iron containing solids after breastfeeding >6mo, excessive cow's milk (protein enteropathy). Rarely fad diets, vegans Malabsorption: eg Coeliac, IBD Hookworm: causes GI blood loss, most common cause in tropics KIDS: insidious, most cases subclinical. Toddlers can tolerate surprisingly low Hbs. If severe, anaemia symptoms. Specific for IDA - infants (listlessness, irritability), mood changes, reduced cognitive/psychomotor performance, rarely pica Specific signs: koilonychia (spoon-shaped nails), atrophic glossitis, angular cheilosis Plumber-Vinson syndrome: IDA+postcricoid web. Requires endoscopy+biopsy as can become malignant. Endoscopy may widen web Blood film: microcytic, hypochromic anaemia with anisocytosis and poikilocytosis Reduced MCV, MCH, MCHC Reduced ferritin (gold standard but acute phase protein), also reduced serum iron with increased TIBC Check coeliac serology, if -ve refer all non-menstruating pts for urgent gastroscopy and colonoscopy Stool microscopy: if relevant travel Hx Treat with ferrous sulfate PO, Hb should rise ~10/mo with mild reticulocytosis. Continue for >=3mo after Hb normalises to replenish iron stores. IV iron only if intolerant or in CKD if there is inadequate mobilisation of iron stores with EPO By far most common cause of refractory IDA is non-compliance due to GI SEs Prophylaxis: iron supplementation for preterm infants, encourage iron containing diet on weaning, avoid prolonged cow's milk consumption

Cyanosis

Bluish discolouration of skin due to >4g/dL (>5 for central) reduced haemoglobin or >0.5g/dL methaemoglobin. For light skinned, spO2 <85%, less for dark Lung pump: alveolar hypoventilation (CNS, hypothermia), ventilation-perfusion inequality (any cause of reduced ventilation - pneumonia, pneumothorax, GBS/MG - or perfusion - TA, PS, ToF, sepsis), impairment of O2 diffusion (BPD, pulmonary hypoplasia/diaphragmatic hernia) CVS pump: R->L shunt (CHD, Eisenmenger) Haem: decreased affinity of Hb for O2 (methaemoglobinaemia - hereditary, aniline dyes, nitrobenzene, azo compounds, nitrites. Carboxyhaemoglobinaemia) Nitrogen washout test (hyperoxia test): infant given 100% O2 for 10min, then ABG taken. pO2<15 = cyanotic CHD

Mixed connective tissue disease

Combination of features from systemic sclerosis, SLE and polymyositis, with high titres of anti-U1-RNP Abs Raynauds, Swollen hands + fingers, symmetrical peripheral polyarthritis, SLE/JDM rash/tight nonelastic skin of hands, muscle weakness/myosits. Rarely restrictive lung disease + PHTN ANA, RhF and anti-RNP +ve Leucopenia, thrombocytopenia

IgA nephropathy

aka Berger's disease, mesangioproliferative glomerulonephritis. Most common nephritic glomerulonephritis in developed world Asymptomatic microhaematuria, or episodic synpharyngitic macrohaematuria (within 12-72h of infection), HTN, proteinuria<1g, 25% slowly progress to ESRD over 30y HTN, male, proteinuria, high creatinine are poor prognostic indicators Diagnose by renal biopsy: IgA deposits in hypercellular mesangium ACEi/ARB: reduce proteinuria, protect renal function Corticosteroids+fish oil if persistent proteinuria>1g refractory to 3-6mo of ACEi/ARB AND GFR>50

Fanconi syndrome

cystinosis (most common cause in children) Sjogren's syndrome multiple myeloma nephrotic syndrome Wilson's disease Generalised PCT dysfunction leading to T2RTA with polyuria, glycosuria, phosphaturia (bone demineralisation, growth impairment), uricosuria, aminoaciduria and tubular proteinuria (-ve dipstick but +ve PCR) Treat with phosphate replacement

Scheuermann's disease

diopathic osteochondrosis of multiple thoracic vertebral epiphyseal plates Typically presents with thoracic kyphosis (commonest cause) in 13-16yo, as anterior vertebral bodies are under higher forces and so become more deformed. Pain is rare, but vertebrae may be tender during active phase. Wide shouldered, hunched appearance XR: irregular vertebral endplates, Schmorl's nodes (herniation of intervertebral discs through vertebral endplate), reduced disc space and anterior wedging causing >40deg thoracic kyphosis. 3 adjacent vertebrae of >5deg wedging pathognomonic Posture control, swimming. PT and spinal braces may help. Surgery for >75deg kyphosis, refractory pain or neuro deficit

Yersinia enterocolitica

gram negative bacillus, does not ferment lactate, oxidase negative, does not produce H2S on TSI agar. Invades GI tract via M cells of Peyer's patches. Found in pet feces, contaminated milk and pork Dysentry Incubation 4-7d. Diarrhoea, fever, pain (pseudoappendicitis), vomiting lasting 1-3w. Occasionally erythema nodosum, reactive arthritis Diagnosis by stool cultures, agglutination titres Treatment supportive, Abx in severe disease (aminoglycosides, TMP-SMX, fluoroquinolone)

Shigella

gram negative bacillus, does not ferment lactate, oxidase negative, does not produce H2S on TSI agar. Invades GI tract via M cells of Peyer's patches. Produces shigatoxin S. sonnei, S. flexneri, S. dysenteriae, S. boydii causes bacillary dysentery by feco-oral transmission Incubation 1-2d, then fever, abdo pain, tenesmus, and watery or bloody diarrhoea lasting 5-7d. Complications: bacteraemia, reactive arthritis (S. flexneri), HUS (shiga-toxin producing S. dysenteriae). Diagnosis by stool culture, PCR/immunoassay Treatment is supportive. Give green bananas (increases SCFA in colon), zinc if <6, Vit A, Abx if systemically unwell (azithromycin or ciprofloxacin) antimotility agents CI! risk of toxic dilatation

Tumour lysis syndrome

hyperuricaemia, hyperkalaemia, hyperphosphataemia, hypocalcaemia, dehydration (hyperhydration + furosemide)

Mycoplasma pneumoniae

epidemics every 4y. Flu-like symptoms, followed by dry cough Reticulo-nodular shadowing (interstitial/atypical pneumonia), usually in one lower lobe, and worse than clinical exam would suggest PCR sputum and serology to confirm. treat with clarithromycin, doxycycline or a fluoroquinolone Complications: autoimmune haemolytic anaemia due to cold agglutinins erythema multiforme/SJS meningoencephalitis/myelitis GBS

Bicuspid aortic valve

eventually causes mixed aortic valve disease or AS. Predisposes to IE and aortic dissection/dilation yearly echos for athletic Pts

Nasal polyp

oedematous sinus mucosa prolapses to fill nasal cavity UNILATERAL POLYP IS MALIGNANCY until proven otherwise Nasal obstruction, rhinosinusitis Samter's triad associated polyp: aspirin hypersensitivity (wheezy), late-onset asthma, nasal polyps. Defect in leukotriene metabolism Antrochoanal polyps: idiopathic, originates from maxillary sinus, then redirected posteriorly in nasal cavity by uncinate process of ethmoid Childhood polyp: consider CF or PCD/Kartagener's Nasendoscopy: pale/grey, mobile on probing and insensate (c/f w/ turbinate pink, immobile, sensate). Grade 1-4 size Small=topical, large=oral steroids If refractory, surgery: CT + FESS with microdebrider (atraumatic polypectomy) + post-op IN steroids Samter's: no salycilate diet, IN steroids, LTA, repeat surgery

Molluscum contagiosum

olluscum contagiosum virus (MCV - poxvirus) MCV1(children), MCV2(adults/HIV) most comon. 3,4 rare Transmitted by skin contact in warm overcrowded environments. If sexually transmitted, found in groin (typically 20-29yo). Facial molluscum is suggestive pf HIV Incubation 2-12w (can be 6mo), smooth pearly umbilicated lesions (from which cheesy material can be expressed) growing over weeks to 2-6mm diameter (10-20 lesions). May leave small depressed scars, and have eczematous patches around. If on face HIV. Typically asymptomatic, but can cause pruritus leading to excoriation and auto-inoculation. resolves in 2-3mo, but may recur in 1/3 within 1-2y Biopsy shows enlarged epithelial cells with intra-cytoplasmic molluscum bodies Curettage, cryotherapy, electrosurgery and puncture with orange stick (dipped in 80% phenol) are treatments (cosmetic only) Imiquimod, podophyllotoxin and cimetidine are unlicensed

Universal newborn hearing screening (UNHS)

otoacoustic emission testing within 48h. If doesn't work, auditory brainstem evoked potential 6-9mo: distraction test - one examiner holds gaze central, other creates freq specific sound - look for head turning. Now abandoned 18mo-4y: PTA, speech discrimination test (Kendall toy test, McCormick toy test), impedance audiometry >=4y PTA (done at school entry)

Haemophagocytic lymphohistiocytosis

rare, primary or secondary to infection. Accumulation of phagocytic mononuclear cells Fever, splenomegaly, cytopenia (2 out of 3). Neuro, lymphadenopathy, skin rash, jaundice, oedema, hepatic dysfunction Biochem: TG hi, fibrinogen low, transaminitis, ferritin hi Spontaneous recovery in secondary w/ resolution of infection. Primary fatal w/o Rx, so steroids, etoposide, IT methotrexate. Allogeneic BMT to cure. Survival 50%

Croup

laryngotracheobronchitis. Parainfluenza virus, more rarely influenza or RSV. Can be spasmodic/recurrent (barking cough + hyperreactive upper airway w/o resp tract symptoms). 6mo-3yo, most common in Autumn Onset over days, w/ prodromal coryza. Barking cough, rasping stridor and hoarse voice w/ temp <38.5 Mild: occassional barking cough, otherwise well Moderate: frequent barking cough, easily audible stridor at rest, retractions at rest, no distress, child can be placated and interested in surroundings Severe: Prominent inspiratory stridor at rest, mared recessions, significant distress/agitation or lethargy or restlessness (sign of hypoxaemia), tachycardia (v. poor sign) Mild - manage at home. Advise that recession and stridor at rest require readmission. If <1yo require closer attention Moderate-severe OR <6mo old, known upper airway abnormalities, uncertainty about diagnosis - admit Moist/humidified air Steroids: PO pred 3d or dex (single 0.15mg/kg dose 1st line) or neb budesonide reduces severity and duration, and need for ETT Neb adrenaline: transient symptom relief ETT: if severe. Give steroids, Abx if evidence of 2ndary infection

Hypocalcaemia

rtefact: hypoalbuminaemia. Take a free ionised Ca or corrected Ca to confirm With high PO4 CKD Hypoparathyroidism Pseudohypoparathyroidism Acute rhabdomyolysis Hypomagnesaemia With low/norm PO4 Vit D deficiency Osteomalacia Acute pancreatitis Over-hydration Resp alkalosis (total Ca normal, but more Ca bound to albumin to symptomatic) Drugs: cisplatin, phenytoin Neonates: prematurity, maternal DM, maternal pre-eclampsia, RDS Late neonates: cow's milk hyperphosphataemia, maternal hyperglycaemia, congenital hypoparathyroidism Infancy: Rickets SPASMODIC: Spasms (carpopedal spasm/+ve Trousseau's test, laryngospasm), Perioral paraesthesiae, Anxious/irritable/irrational, Seizures, Muscle tone increased in SMCs (colic, wheeze, dysphagia), Orientation impaired (time, place, person)/confusion, Dermatitis (atopic/exfoliative), Impetigo herpetiformis (severe pustular psoriasis of pregnancy), Chvostek's sign, Choreoathetosis, Catarcts, Cardiomyopathy. Long QT on ECG, basal ganglia calcification Treat aetiology Mild: Ca PO, check Ca daily Severe: 10ml 10% calcium gluconate IV over 30min

Chickenpox

transmitted by droplets, infects PBMC Incubation 14-21d Chickenpox (1-6yo): 1-2d prodrome of fever, malaise, headache, abdo pain. Then pruritic erythematous macules which become vesicles, then pustules, then crusting over in 48h. Infectious from 4d prerash till crusting (5d). Start on head and trunk, then spread to rest of body. Serology can confirm (IgM). Complications- encephalitis, pneumonia, transverse myelitis, pericarditis, DIC Supportive: keep cool, trim nails, calamine lotion School exclusion for 5d from skin eruption. Aciclovir if severe (complications), immunosuppressed, babies

Down's

trisomy 21, most common genetic cause of LD. IQ<50. Can be full (95%) or robertsonian translocation (5%), rarely mosaicism (IQ in 70s, physical abnormalities less marked) RF: mum >40yo, FHx At birth generalised hypotonia + head lag Short, overweight, brachycephaly, maxillary hypoplasia, underdeveloped bridge of nose, eyes close together, Brushfield's spots, epicanthic folds, low-set ears, high arched palate, protruding tongue, atlanto-occipital instability CVD: ASD/VSD/AVD, MVD, PDA, ToF GI: Oesophageal/duodenal atresia, Hirschsprung, umbilical/inguinal hernia Hands: short broad hands with single (simian) palmar crease, syndactyly, clinodactyly, altered dermatoglyphics Eye: strabismus, myopia, blocked tear ducts, nystagmus, late-life cataracts, keratoconus Ear: structural anomalies -> recurrent otitis media, SNHL Immuno: raised IgG/IgM, low T cells Endo: hypothyroid (20%), DM CNS: reduced brain weight/gyru, cortical thinning. Alzheimer's desease Male: delayed puberty, abnormal spermatogenesis (infertile) Female: Problems with ovulation/follicular growth, early menopause (subfertile) 30% will have psych comorbidity (usually depression)

Post-strep GN

~2w after pharyngitis or 3-6w after skin infection. Group A strep Ag deposits in glomerulus lead to IC deposition (IgG,IgM,C3) and inflammation May be asymptomatic haematuria, or acute nephritis - haematuria, oedema, HTN, oliguria Diagnose by ASOT, anti-DNAse B, reduced C3 Renal biopsy rarely required: endothelial and mesangial proliferation with neutrophils on LM. Subepithelial humps on EM. 'starry sky' granular staining on IF Supportive treatment+Abx

Crohn's disease

Chronic inflammatory disease - transmural granulomatous inflammation affecting any part of gut from mouth to anus, usually starting at ileocecal junction. Due to inappropriate immune response to gut flora in genetically susceptible Pts. Smoking increases risk, 20-40yo Diarrhoea (bloody/mucoid), abdo pain, weight loss/failure to thrive, systemic symptoms (fatigue, fever, malaise, anorexia. Bowel ulceration, abdo tenderness/mass, peri-anal abscess/fistulae/skin tags, anal strictures. Extra-intestinal signs: clubbing, aphthous ulcers, erythema nodosum, pyoderma gangrenosum, conjunctivitis, episcleritis, iritis, large joint arthritis, sacroiliitis, ankylosing spondylitis, PSC, nutritional deficits Complications: small bowel obstruction, toxic megacolon, abdominal/pelvic/peri-anal abscess, fistulae (entero-enteric, colovesical, colovaginal, enterocutaneous), perforation, small bowel cancer/CRC, osteoporosis FBC, U+E, LFT, ESR/CRP, ferritin/TIBC, B12, folate, INR Stool MC&S/CDT to exclude dysentry faecal calprotectin: inflammatory marker Colonoscopy+biopsy even if normal mucosa Capsule endoscopy, MRI or USS (skilled operator) for small bowel imaging Small bowel enema shows Kantor's string sign and rosethorn ulcers Psychotherapy, smoking cessation, optimise nutrition(polymeric, elemental, low residue diets), assess severity (Increased temp, HR, ESR/CRP, WCC, decreased albumin = severe) Mild-moderate: Pred 1wk, taper 7wk. 'elemental'/'polymeric' diets are effective in children Severe: admit, IV hydration/electrolytes, IV steroids, VTE prophylaxis, multiple MC&S/CDT. Monitor temp, HR, BP, stool (stool chart) Daily FBC, U+E, LFT, CRP/ESR, AXR, physical exam. If improving switch to steroids, if not try biologics Perianal disease: MRI/examination under anaesthetics. Abxs for abscess, seton for fistulae, immunosuppressants and/or anti-TNFalpha If relapse on tapering, >=2 courses of steroids/y, azothioprine. Alternatives: 6-MCP, methotrexate, biologics. 5-ASA PLAYS NO ROLE

Presentations

Wheeze - highpitched (smaller airways), lowpitched (larger airways), monophonic (one airway), polyphonic(multiple airways) Snoring - usually adenotonsilar hypertrophy PFTs: >=5yo (easier >=7yo), PEFR and bronchodilator reversability useful for asthma

Exomphalmos

aka omphalocele. Hernia into base of umbilical cord, covered by sac. Examphalmos major >5cm, minor <5cm. Malformations in 50% (chromosomal - trisomies Turners, cardiac defects, BWS) Diagnosed by antenatal USS Closure of defect (can be staged)

Dextrocardia

Major CHD (PS, TA, ToGA, TAPVR, AVD, HLHS) if Dextrocardia + normal abdo Laevocardia + adbo situs inversus If dextrocardia + abdo situs inversus, generally heart is normal

Restrictive cardiomyopathy

Puppy LEASH RVF symptoms, with prominent x and y descents Echo, MRI, catheterisation Treat cause

Asthma

Type I hypersensitivity - 3 factors: bonchial muscle contraction, inflammation/mucosal swelling, increased sputum production. WIth pregnancy 1/3 get better, 1/3 stay the same, 1/3 get worse. Rx same Infrequent episodic (<4 episodes/y, ICS not required, most common), frequent episodic (2-4weekly), persistent (>=3/week w/ cough), exercise-induced intermittent dyspnoea, wheeze, cough (often nocturnal), sputum Precipitated by emotion, cold air, exercise, allergens (eg. smoking, pollution), infections, NSAIDs/b blockers. Usually diurnal variation (PEF drops in morning), disturbed sleep, acid reflux, and other atopic diseases widespread polyphonic wheeze, hyperresonance (hyperinflation), low air entry, prolonged expiration, barrel shaped chest PEF monitoring, PFTs (obstructive, should see improvement with b2 agonist trial). CXR: hyperinflation, flat hemidiaphragms, peribronchial cuffing, atelectasis Methacholine/histamine challenge not used. FeNO now used. Aspergillus serology non-pharma: smoking cessation, avoid precipitants (remove feather/woolen bedding, wrap mattress in plastic, clean carpets and furniture, no pets in house if allergic), weight loss. Teach inhaler and peak flow technique. Monitor PEFs twice a day. Give specific advice for emergency situations >5yo Pharma: 1. SABA PRN 2. low dose ICS 200mcg (<400mcg) 3. LABA (if no benefit stop LABA). Increase to medium dose ICS 800mcg (400-800). Try leukotriene antagonist or theophylline PO 4. consider high dose ICS 2000mcg (>800mcg), modified release theophyline or LABA PO, leukotriene antagonist 5. pred PO OD. Refer NICE: before introduction of LABA, trial LTRA (stop if no benefit). Before switching to medium dose ICS, try MART (LABA + ICS used for maintenance and PRN) <5yo 1: SABA 2: SABA + 8w trial of moderate-dose ICS. If no help, reconsider ddx. If stop, then recur within 4w, restart with low dose ICS. If recur beyond 4w, retry 8w moderate-dose ICS trial 3: SABA + low dose ICS + LTRA 4: stop LRTA, refer to specialist FOR ALL, start on step 2 if >=3/w symptoms or night time waking FOR CHILDREN ICS doses different. Budesonide <200ug low, 200-400 moderate, >400 high Steroid ADRS: impaired growth (ask about hair cut/new shoe frequency, as early sign), adrenal suppression, oral candidiasis, altered bone metabolism Theophylline: vomiting, sleep disturbance, headache, poor concentration/school deterioration, arrhythmias Equipment: neb, MDI + spacer (good for youngest, <3yo facemask - allow to take >=5breaths/dose), Dry powder device (>5yo), propellant metered dose inhalers (PMDI, >12yo, hard to use so not advised) ACUTE severe PEF 33-50% best or predicted Too breathless to talk or feed Heart rate >125 (>5 years) >140 (1-5 years) Respiratory rate >30 breaths/min (>5 years) >40 (1-5 years) Use of accessory neck muscles Life threatening SpO2 <92% PaO2 < 8 PEF <33% best or predicted Silent chest Poor respiratory effort Agitation Altered consciousness Cyanosis PEF if >5yo bagonist 1 puff every 30-60s, max 10, if not controlled call hospital. Pred 20mg (2-5yo) 30-40mg (>5yo), or 1-2mg/kg, for 3-5d for all with acute exacerbation Salbutamol 5mg (2.5mg if <5yo) every 10min + ipratropium 0.25mg every 8h, Hydrocortisone 100mg IV or pred 1-2mg/kg soluble tablets (max 40mg) or pred 50mg if >12. IV MgSO4 40mg/kg over 20min (max 2g). Aminophylline IV 5mg/kg IV over 20min (if not already on xanthine. Coadminister with odansetron due to vomiting). If still not good, consider starting CPAP in ED. If exhausted, confused, coma, or refractory requiring IVI salbutamol send to ITU

Traumatic head CT criteria

* Loss of consciousness lasting more than 5 minutes (witnessed) * Amnesia (antegrade or retrograde) lasting more than 5 minutes * Abnormal drowsiness * Three or more discrete episodes of vomiting * Clinical suspicion of non-accidental injury * Post-traumatic seizure but no history of epilepsy * GCS less than 14, or for a baby under 1 year GCS (paediatric) less than 15, on assessment in the emergency department * Suspicion of open or depressed skull injury or tense fontanelle * Any sign of basal skull fracture (haemotympanum, panda' eyes, cerebrospinal fluid leakage from the ear or nose, Battle's sign) * Focal neurological deficit * If under 1 year, presence of bruise, swelling or laceration of more than 5 cm on the head * Dangerous mechanism of injury (high-speed road traffic accident either as pedestrian, cyclist or vehicle occupant, fall from a height of greater than 3 m, high-speed injury from a projectile or an object)

Schizophrenia

1% prevalence RF: pregnancy/neonatal complications, neurodevelopmental/behavioural childhood difficulties, severe maternal malnutrition/influenza during pregnancy, urbanisation at birth, use of cannabis during adolescence May have prodrome of non-specific or negative symptoms. Then have first acute episode late adolescence/early adult requiring admission. Then relapse (can be spontaneous, but usually non-compliance, substance misuse or life stress) Positive: delusions, hallucination, thought disorder Negative: loss of volition motivation and spontaneous behaviour, social awareness. Social withdrawal, blunting of mood/affect, anhedonia FIRST RANK Auditory hallucinations: voices arguing, thought echo, running commentary Delusions of Thought interference: thought insertion/withdrawal/broadcasting Control: passivity of affect/impulse/volition/somatic Perception SCITZO TYPES Paranoid: delusions + hallucinations Hebephrenic: disorganised speech, flat/inappropriate affect Catatonic: psychomotor disturbance Simple: only negative, gradual onset, no acute episodes Residual: previous positive, but now gone and left with negative Post-schizo depression Undifferentiated: no subtype predominates PO antipsychotic (depot if Hx of recurrences due to non-compliance). Discuss risk (EPS, weight gain, others) and benefits. Don't combine. If >2 don't work (1 must be SGA), try clozapine Usually either SGA (olanzapine, amisulpride, risperidone, quetiapine) and BDZ (diazepam), OR a sedating FGA (chlorpromazine, not trifluoperazine, flupenthixol, haloperidol) which will also sedate. Anticholinergics (procyclidine) or amantadine for Parkinsonian ADRs. 70% have acute depression, TCA>SSRI ONCE acute phase has passed (3-9mo), find minimal effective dose for maintenance 15-20% only have first episode (no recurrence) 55% show good social functioning at 13y f/u

SUFE

10-16yo, 20% bilateral. Typically male, obese, hypogonadal (delayed GA) OR male, tall, thin, post growth spurt (GH abundance). Associated w/ hypothyroidism, Downs, African american. Femoral neck displaces anteriorly, with head remaining in acetabulum Presents after minor injury with limping and pain in groin, anterior thigh and knee (knee pain is referred, commonly first sign). 90% weight bearing, 10% not (unstable). Flexion, abduction, medial/internal rotation limited. Thigh atrophy. If untreated, leads to AVN and OA AP and frog-leg lateral XR (widening of physis, Klein's line intersects w/ lateral capital epiphysis. Femoral head falling inferolaterally like ice cream cone melting. Southwick angle = severity. Prompt diagnosis prevents early OA Surgery: percutaneous internal fixation to stabilise slippage/encourage physeal closure. DO not reduce due to risk of precipitating AVN

PTSD

2 or more persistent symptoms of increased psychological sensitivity + arousal: insomnia, irritability/outbursts of anger, reckless/self-destructive behaviour, conc difficulties, hypervigilance, exaggerated startle response Other: persistent remembering/reliving stressor in intrusive flashbacks, vivid memories, recurring dreams, distress when exposed to/avoidance of situations resembling/associated with stressor, partial/complete amnesia of stressor KIDS: developmental regression, altered sleep/feeding routines, clingy/anxious/aggressive behaviour, post-traumatic play, 'personality change' (emotional numbing/detachment in children too young to express Protective: high IQ/SEC, male white, psychopathic traits, seeing dead body of person Rx CBT: education, anxiety management, exposure to anxiety-inducing stimuli, imaginal reliving Eye movement desensitisation and reprocessing (EMDR): voluntary multi-saccadic eye movements to treat anxiety Other: psychodynamic therapy, stress management, hypnotherapy Pharma: only used if ongoing severe threat, or psycho fails. SSRI (paroxetine, sertraline) licensed for PTSD, can try others (TCA, MAOI). insomnia/nightmares - hypnotics, mirtazapine, prazosin. Anxiety - BDZs, propranolol. Psychosis - antipsychotics. Intrusive thoughts - mood stabilisers 50% recover in first year, 30% become chronic

Hyperparathyroidism

4 glands posterior to thyroid. PTH increases osteoclast activity, increases Ca (decreases PO4) reabsorption in kidney, increases vit D activation Primary hyperparathyroidism (high PTH+Ca): 80% solitary adenoma, 20% hyperplasia of multiple glands, <0.5% cancer Secondary hyperparathyroidism (high PTH, low Ca): Vit D deficiency, CKD Tertiary hyperparathyroidism (v. high PTH, high Ca): CKD. Prolonged secondary causes irreversible hyperplasia and autonomous oversecretion of PTH Malignant: PTHrP can be released by SCLC, breast and renal cell carcinoma Associations: MEN1 Transient neonatal hyperparathyroidism: maternal hypoparathyroidism leads to IU parathyroid hyperplasia Often asymptomatic, incidental finding Hypercalcaemia: weak, tired, depressed, thirsty, dehydrated+polyuric. Renal stones, abdo pain, pancreatitis, peptic ulcers (more commonly duodenal) Bone resorption: pain, fractures, osteopenia/osteoporosis HTN serum and urinary Ca, PTH, PO4 (reduced, except CKD), ALP (raised, bone activity) XR of hand/phalanges may rarely show osteitis fibrosa cystica (von Recklinghausen's disease) if severe resorption: subperiosteal erosions, cysts, brown tumours of phalanges. Acro-osteolysis and 'pepper-pot' skull are other manifestations. DEXA may show osteoporosis Sestamibi (MIBI) parathyroid scintography may be used If mild (Ca<0.25 above normal AND >50yo AND no end-organ damage), advise increased fluid intake (stones), avoid thiazides or diet high in Ca/VitD, review 6 monthly Otherwise, parathyroidectomy. Check Ca daily for 14d post-op to catch hungry bone syndrome. Cinacalcet: alternative to surgery CaSR agonist, increases PTH Ca sensitivity. Monitor Ca within 1w of every dose change For secondary: Phosphate binders, VitD supplements

Febrile seizures

4% of all children between 6mo-6y, may have temp >=39deg (but may be normal on recording), occurs during first day of fever (due to rapid rising). 35% risk of recurrence over lifetime, 25% over 1y (higher if <18mo, fever<39, shorter fever, FHx). risk of epilepsy = b/g risk (2.5%), unless lengthy, affect only part of body, recur within 24h, neuro abnormalities Simple/typical: generalised tonic-clonic <15min (usually <5min) with fever, no recurrence within 1d, recovery within 1h Complex/atypical: focal, >15min or multiple seizures in 1d Febrile StE: >30min Admit if first seizure or complex/atypical If >10min duration, start StE Rx Teach parents how to use PR diazepam, buccal midazolam, phone ambulance if >5min. Regular antipyretics do not help

Withdrawal of life-sustaining Rx

5 RCPCH situations Brain death Permanent vegetative state No chance: such severe disease that life-sustaining Rx would just delay death w/o alleviating suffering No purpose: may survive Rx, but resulting physical/mental impairment will be so great that it is unreasonable to expect them to bear it Unbearable: in the face of progressive and irreversible illness, further Rx is more than pt/parent feels can be borne IF ANY DOUBT, SAFEGUARD CHILD'S LIFE until decision made

Klinefelters

47 XXY, non-dysjunction Puberty as normal, but mid puberty testes begin to involute, causing hypergonadotrophic hypogonadism (testicular failure) w/ reduced testosterone (tall, feminine body build, 50% gynaecomastia - may get breast ca). As adults, small testes, azoospermia (infertile). IQ reduced ~15 points

Migraine

5% of population. Aetiology unknow, previously though to be vascular, but now primary neurological cause more likely RF: female, obesity, FHx, OCP, smoking, age>35, HTN, DM, hyperlipidaemia, FHx of arteriopathy <45 Classically aura lasting 15-30min followed within 1h by headache. Isolated aura without headache or episodic headaches without aura (common migraine) also possible. May have prodrome of yawning, craving, mood/sleep changes Aura: visual (chaotic distorting, melting and jumbling of lines, dots or zigzags, scotomata, heminanopia), somatosensory (paraesthesia spreading from fingers to face), motor (basilar migraine-dysarthria+ataxia, opthalmoplegia, hemiparesis), speech (dysphasia, paraphasia) Headache: unilateral, throbbing, with N+V, photophobia/phonophobia, allodynia Triggers: CHOCOLATE - Chocolate, Hangovers, Orgasms, Cheese/caffiene, Ocp, Lie-ins, Alcohol, Travel, Exercise Criteria if no aura: >= 5 headaches lasting 4-72h with N/V or photo/phonophobia + 2 of [unilateral, pulsating, moderate-severe, impairs routine activity] In children: shorter, bilateral, more prominent GI features Avoid triggers, stop OCP, advise about analgaesic rebound. Warm/cold packs to head, breathing into paper bag may abort attacks. Butterbur extracts, riboflavin supplements, transcutaneous nerve stimulation may all play a role Prevention (>=2 attacks/mo): propranolol or topiramate are first line, with 10 sessions of acupuncture over 5-8w if refractory. Amytriptiline commonly used off-license. 12 weekly botox injections are last resort During attack: oral triptan with [paracetamol OR ibuprofen]. Anti-emetics may help even w/o N+V During pregnancy migraines usually improve, but if getting worse associated with pre-eclampsia and CVS complications - get help. 1st line paracetamol KIDS Acutely: Ibuprofen (better than paracetamol) and domperidone. If >12 and prophylaxis not working, can use sumatriptan nasal spray (not PO, but poorly tolerated due to bad taste in back of throat. ADRs tingling, heat, heaviness/pressure sensation). Prophylaxis: if disrupting social/school activities, 3mo trial of pizotifen, 2nd line propranolol, 3rd line amitriptyline. Valproate/topiramate are other options

Immunisation schedule

6-in-one: diphtheria, tetanus, whooping cough, polio, Hib, HBV. 8, 12, 16w Rotavirus: 8w, 12w PCV: pneumococcus. 8w, 16w, 1y Men B: 8w, 16w, 1y Hib/Men C: 1y MMR: 1y, 3y4mo. May cause malaise, fever and rash 5-10d after first dose, lasting 2-3d Influenza (nasal): annually in sept/oct for all 2-9yo 4-in-1 preschool booster (DTaP): diphtheria, tetanus, whooping cough, polio. 3y4mo HPV: girls only. 12-13y, 2 injections 6mo apart 3-in-1 teenage booster: tetanus, diphtheria, polio. 14yo MenACWY: 14yo and new uni students 19-25yo OPTIONALS Chickenpox: siblings of immunosuppressed children. >1yo, 2 doses 4-8w apart BCG: high risk babies (living in high TB area, parents/grandparents born in high TB prevalence country) Flu: outside normal age range if immunosuppressed. If <2yo IM not nasal CI Confirmed anaphylactic reaction to previous dose or egg protein Febrile illness/infection Live vaccines: pregnancy, immunosuppression DTP: defer in evolving or unstable neurological condition MMR: neomycin allergy, recieved live vaccine by injection within 4w, IVIg within 3mo Rotavirus: not after 14+6w (first dose) and 23+6w (2nd dose) due to theoretical risk of intussusception

Vision screening

6w: fix and follow face/toy 7-8w: health visitor assesses visual behaviour 4-5yo: orthoptist checks monocular VA and ocular alignment, referes if <6/9.6 Registered blind if <3/60 Registered partial sight if 3/60-6/60

Amblyopia

6w: fix and follow light source 3mo: fix and follow slow target 6mo: reaches out accurately for toys 2y: picture matching 3y: single letter matching (Sheridan Gardiner) 5y: Snellen/LogMAR Amblyopia In first 6y of life, vision very vulnerable Stimulus deprivation amblyopia: constant monocular vision >1w/y will cause. Most congenital cataracts are amblyogenic - expedient removal prevents, but surgery in v. young causes postop glaucoma. 6w old consensus Refractive error amblyopia: Anisometropic (u/l), ametropic (symmetrical b/l), astigmatic Strabismic amblyopia: if only one eye fixates causes c/l amblyopia Reduced VA after exclusion of other causes and corrected refractive error. Exaggeration of crowding phenomenon (better with single optotypes), with good tolerance of neutral density filter Rx: first correct refractive error! May fix. If by 3mo not fixed Occlusion: Patching for max 4h/d of c/l eye. Longer time/d and duration if worse VA or older child Penalisation: atropinisation of c/l eye reduces VA to 6/18, so only works if amblyopia>6/18 Other: levodopa supplementation, video game therapy

PCOS

80% of anovulatory subfertility, 10% of women. Cysts on USS in 30% Aetiology multifactorial - high LH:FSH ratio, genes, insulin resistance/obesity, hyperandrogenism all play a role O/E: BMI, hirsutism, acne, alopecia (male pattern), acanthosis nigricans Risk of GDM, OSA, endometrial hyperplasia/cancer (long 2ndary amenorrhoea= unopposed oestrogen LH, FSH, TFTs, prolactin, testosterone Dehydroepiandrosterone sulphate (DHEAS), androstenedione, SHBG Pelvic USS Exclude other causes of 2ndary amenorrhoea Rotterdam criteria - exclusion of other diseases and 2 out of 3 of the following: Irregular/absent ovulations (cycle>42d) Clinical (acne, hirsutism, alopecia) or biochemical(high testosterone/androgens) signs of hyperandrogenism Polycystic ovaries on pelvic USS (>=12 antral follicles on one ovary)/ovarian volume >10ml Lifestyle modification: weight loss (even 5% can have huge benefit) Mainstay: metformin (not liscenced in UK, improves biochem but not symptoms) and COCP (co-cyprindiol reduces androgens by increasing SHBG, provides regular withdrawal bleed) Cosmetic: depilatory cream, electrolysis, shaving plucking) Anti-androgens: eflornithine facial cream, finasteride, spironolactone. Help acne/hirsutism, but take 6-9mo to have effect and teratogenic (feminize male fetus) Psychological support: for self-esteem, body image, etc Fertility Weight loss alone 1st line to induce spontaneous ovulation Metformin + clomifene (controversial) Ovulation induction: antioestrogens, gonadotrophins Laparoscopic ovarian diathermy (ovarian drilling) IVF: final line, increases risk of ovarian hyperstimulation syndrome

Idiopathic generalised epilepsy

95% of sleep deprived EEGs will show generalised discharges Juvenile myoclonic epilepsy (Janz syndrome) Typical onset in the teens, more common in girls 1. Infrequent generalized seizures, often in morning 2. Daytime absences 3. Sudden, shock like myoclonic seizure usually good response to sodium valproate Myoclonic absence epilepsy: typical absences w/ short symmetrical jerks of upper limbs with abduction and elevation, <5yo onset, can deteriorate into epileptic encephalopathy Childhood absence epilepsy (petit mal): v frequent typical absences during first decade, rarely develop t-c. Absence may be associated with mild myoclonia, asymmetry or automatisms Juvenile absence epilepsy: late 1st/early 2nd decade w/ absences, 30% myoclonic jerks -> generalised t-c in 2nd decade if no Rx. Adult relapse common FOR ALL 1st: valproate (or ethosuximide in childhood absence epilepsy) 2nd: lamotrigine 3rd: BDZ (clonazepam) and others

Hypopit

Hypothalamic: Kallman's syndrome, tumour, inflammation, infectioni (meningitis, TB), ischaemia Pituitary stalk: trauma, surgery, mass lesion (craniopharyngioma), meningioma, carotid artery aneurysm Pituitary: tumour, irradiation, inflammation, autoimmune hypophysitis (associated with pregnancy, and CTLA-4 blockers), infiltration (haemochromatosis, amyloidosis, mets), ischaemia (pituitary apoplexy, DIC - commonly snake bites in India, Sheehan's syndrome - pituitary necrosis after PPH) Secretion of anterior pituitary hormones decreases in this order: GH, FSH, LH, TSH, ACTH, PRL. Once all are affected, panhypopituitarism GH: central obesity, atherosclerosis, dry wrinkly skin, reduced strength, balance, well-being, exercise ability, CO, glucose. Osteoporosis Gonadotropin (female): oligo/amenorrhoea, reduced fertility and libido, osteoporosis, breast atrophy, dyspareunia Gonadotropin (male): ED, reduced libido and muscle bulk, hypogonadism (reduced hair all over, small testes, reduced spermatogenesis/ejaculation volume) Thyroid: hypothyroidism Corticotropin: Addison's without skin pigmentation Prolactin: absent lactation LH, FSH, testosterone, oestradiol, TSH, T4, prolactin (high if stalk disruption), IGF1 (GH axis), cortisol. U+E (dilutional hyponatraemia), FBC (normocytic, normochromic anaemia) Short synacthen test: assess adrenal axis Insulin tolerance test: assess GH+ACTH axis. Requires specialist centre, CI in epilepsy, heart disease, adrenal failure. IV insulin causes hypoglycaemia (<2.2). Once symptomatic, measure GH and cortisol. If CI, do glucagon (IM) stimulation test or arginine+GHRH test Triple stimulation test: insulin, GnRH, TRH are all IV infused as bolus to test all axis at once (rarely done) MRI to look for hypothalamic or pituitary lesion Refer to endocrinologist ACTH axis: Hydrocortisone BEFORE ALL ELSE TRH axis: thyroxine (TSH useless for monitoring), give AFTER hydrocortisone, can precipitate adrenal crisis GnRH axis: males get testosterone enanthate IM every 3weeks or gels/dermal patches (testogel). Females get oestrogen (transdermal oestradiol patches or OCP) and a little testosterone or DHEA. Gonadotropin therapy required to induce fertility GH axis: somatotrophin mimics GH

Infantile colic

<3mo old with bouts of excessive crying and pulling up of the legs, worse in the evening. Occurs in 20%, idiopathic

Kawasaki disease

<5yo, M>F, mortality 3.7%, medium vessel vasculitis Fever >38.5 for >5d w/o explanation and 4 of the following 5 (not necessarily at same time) B/l conjunctival injection Changes of lips/oral cavity: dryness, erythema, fissuring of lips (70%), strawberry tongue (70%), diffuse erythema of oral and pharyngeal mucosa Changes of extremeties: erythema of palms and soles (80%), indurative oedema, periungual desquamation of fingers and toes Polymorphous exanthem Non-suppurative cervical lymphadenopathy >1.5cm Also Urethritis with sterile pyuria, arthralgia, arthritis CNS: aseptic meningitis w/ CSF pleocytosis and normal glucose + protein, SNHL (transient high freq or permanent) GI: V+D, hydrops of gall bladder +/- obstructive jaundice Cardiac: CCF, myocarditis, pericardial effusion, arrhythmias, mitral insufficiency, acute MI with 1y (73%) Coronary aneurysms (25%): most common and worrying Leucocytosis w/ L shift, thrombocytosis, normocytic normochromic anaemia w/ low reticulocytes. Increased coagulability, ESR, CRP, transaminitis. Hypoalbuminaemia UA: mononuclear cells w/ cytoplasmic inclusions abundant in urine, but dipstick can't detect (looks for polymorphs) ECG usually normal Echo: aneurysms first seen 7-21d post-fever High dose IVIg over 12h first line, with high dose aspirin (continue until fever resolves, then switch to low dose). Cardiac f/u

NF2

AD mutation in NF2 on 22q11, 50% denovo. Rarer than NF1 Fewer cafe-au-lait spots than NF1. Bilateral vestibular schwannomas (acoustic neuromas) are characteristic. Juvenile posterior subcapsular lenticular opacity (a form of cataracts) may precede all other symptoms Complications: tender schwannomas in peripheral nerves, meningiomas (often multiple). Glial tumours less common Criteria Bilateral vestibular schwannoma on MRI/CT OR [First-deg FHx AND one of: Unilateral vestibular schwannoma Neurofibroma Meningioma Glioma Schwannoma Juvenile cataract Yearly hearing tests with MRI if abnormal. Clear scan at 30yo excludes diagnosis. Treat vestibular schwannomas neurosurgically. prognosis 15y

Cushing's

ACTH dependent (high ACTH) Cushing's disease: bilateral adrenal hyperplasia due to ACTH-secreting pituitary adenoma (usually microadenoma). Most common endogenous Ectopic ACTH production: SCLC, carcinoid tumours. Massively elevated ACTH causes hyperpigmentation and hypokalaemic metabolic alkalosis, weight loss, hyperglycaemia. Often classical features absent Ectopic CRH production: medullary thyroid cancer, prostate cancer ACTH independent (low ACTH due to negative feedback) Iatrogenic: most common, due to steroid use Adrenal adenoma/cancer: abdo pain+virilisation Adrenal nodular hyperplasia Rarely Carney complex, McCune-Albright syndrome (neonates) Weight gain, mood change (depression, lethargy, irritability, psychosis), proximal weakness, gonadal dysfunction (irregular menses, hirsutism, ED), acne, recurrent achilles tendon rupture, virilisation Central obesity, plethoric moon face, buffalo hump, supraclavicular fat distribution, skin+muscle atrophy, bruises, purple abdominal striae, osteoporosis, HTN, high glucose, infection-prone, poor healing Plasma cortisol depends on stress, illness, time of day - not good. Adrenal CT finds incidentalomas in 5%, MRI pituitary 10% (misses 30% of Cushing's disease as microadenomas common) 1st: overnight dexamethasone suppression test - PO at midnight, then measure serum cortisol at 8am. False +ve (pseudo-Cushing's) from depression, obesity, alcohol excess, liver enzyme inducers. Differentiate with insulin suppression test 2nd: 24h urinary free cortisol 3rd: 48h dexamethasone suppression test - QDS PO for 2d, measure cortisol at 0 and 48h 4th: 48h high-dose dexamethasone suppression test - only dose sufficient to suppress Cushing's disease 5th: midnight cortisol taken through cannula. Lowest part of circadian rhythm Localising Do 1,2,3,5 Serum ACTH: if undetectable, CT adrenal glands. If no mass, do adrenal vein sampling. If ACTH detectable/high, do 4 or CRH test (give CRH IV, measure cortisol at 120min - rises with pituitary disease, not with ectopic). If either/both +ve, MRI pituitary, bilateral inferior petrosal sinus sampling. If -ve, hunt for tumour - contrast CT chest/abdomen/pelvis, MRI neck/thorax/abdomen Iatrogenic: stop steroids if possible Cushing's disease: trans-sphenoidal excision. Bilateral adrenectomy if source not identifiable or recurrence (beware Nelson's syndrome) Adrenal adenoma/carcinoma: adrenelectomy cures adenoma. For cancer, post-op radiotherapy + adrenolytics (mitotane) Ectopic: excision if non-metastatic tumour can be identified. Otherwise, metyrapone, ketoconazole, fluconazole, mifepristone, etomidate myopathy, obesity, oligomenorrhoea, HTN, osteoporosis, mood changes and DM often remain after treatment

Familial hypocalciuric hypercalcaemia

AD CaSR mutation. Benign, mostly asymptomatic, typically incidental finding. High Ca, low urinary Ca, inappropriately normal PTH If homozygous, severe life-threatening hyperparathyroidism at birth necessitating parathyroidectomy

MENT1

AD MEN1 mutation. 30-50yo Parathyroid hyperplasia/adenoma (95%, always high Ca) Pancreas endocrine tumours (70%): gastrinoma, insulinoma or rarely somatostatinoma (DM+steatorrhoea+gallstones/cholangitis), VIPoma, glucagonoma (migrating rash, glossitis, cheilitis, anaemia, weight loss, increased glucagon and glucose) Pituitary prolactinoma (50%) or GH secreting tumour (acromegaly) Other associations: adrenal and carcinoid tumours

Noonan sydrome

AD PTPN1. Short stature, facila (hypertelorism, ptosis, ear abnormalities), broad neck, CHD (PS), cardiomyopathy, pectus carniatum superiorly and pectus excavatum inferiorly, mild developmental delay, cryptorchidism

MENT2A

AD RET mutation Medullary thyroid carcinoma (100%) Phaeochromocytoma (50%, benign and bilateral) Parathyroid hyperplasia (80%, but high Ca rare) If detected early, prophylactic thyroidectomy (preferrably <3yo)

MENT2b

AD RET mutation Medullary thyroid carcinoma, phaeochromocytoma, mucosal neuromas, marfanoid habitus, NO hyperparathyroidism, Hirschsprung's disease Mucosal neuromas: bumps on lips, cheeks, tongue, glottis, eyelids, visible corneal nerves If detected early, prophylactic thyroidectomy (preferrably <3yo)

VHL

AD VHL mutation at c3 causes uncontrolled activation of growth factors Familial, multicancer syndrome. Bilateral renal cysts and clear cell renal carcinoma by ~40yo (VHL usually mutated in normal spontaneous tumours). Also retinal+cerebellar haemangioblastoma (bleeding/retinal detachment) and phaeochromocytoma. pNETs (mostnon-functioning) Simple adenomas/cysts of pancreas, liver, epididymis, lung, meningioma Manage by screening

HoCM

AD beta-myosin, alpha-tropomyosin, troponin T Predominantly septal LVH. Diastolic filling impaired but systolic fine SCD angina, dyspnoea, fatigue, CP, palpitations, syncope on exertion jerky pulse, double-apex beat, ESM w/ thrill at left sternal border ECG: LVH, T wave inversion, deep Q in inferolateral Echo: SAM of MV, assymetric septal hypertrophy MRI can be used, exercise test +- holter monitor to stratify risk nonpharma: avoid athletic exercise B-blockers or CCB for symptoms amiodarone/warfarin for arrhythmias septal myomectomy only for severe LVOT obstruction consider ICD insertion

Marfans

AD fibrillin-1 mutation with reduced extracellular microfibril formation Major criteria: ectopia lentis, aortic dissection/dilatation, dural ectasia, skeletal features (arachnodactyly, armspan>height, pectus deformity, scoliosis, pes planus) Minor criteria: MVP, high arched palate, joint hypermobility Clinical diagnosis, MRI for dural ectasia Bblockers slow aortic root dilatation, annual echo, surgical repair once aortic diameter >5cm. Pregnancy increases dissection risk

TSC

AD mutation in TSC1 (c9) or TSC2 (c16) Cutaneous features depigmented 'ash-leaf' spots which fluoresce under UV light roughened patches of skin over lumbar spine (Shagreen patches) adenoma sebaceum (angiofibromas): butterfly distribution over nose fibromata beneath nails (subungual fibromata) café-au-lait spots* may be seen Neurological features developmental delay epilepsy (infantile spasms or partial) intellectual impairment Also retinal hamartomas: dense white areas on retina (phakomata) rhabdomyomas of the heart gliomatous changes can occur in the brain lesions polycystic kidneys, renal angiomyolipomata lymphangioleiomyomatosis: multiple lung cysts >9yo biannual renal USS (CKD can occur if deletion runs into neighbouring gene Treat with mTORC1i (sirolimus, everolimus - block pathological cell signalling)

Innocent heart murmur

ALWAYS systolic, short duration/low intensity sound, intensifies w/ increased CO (exercise, fever), may change in intensity w/ posture and head position/ No thrills or heaves, no radiation, asymptomatic Venous hum (uncommon): machinery quality continuous blowing sound, ULSB/infraclavicular, due to blood flow in great veins Flow murmur: short, mid LSB, occuring during acute illnesses with fever, disappearing once resolved Musical murmur/Still's murmur: LLSB, low pitched

Primary hyperoxaluria type 1

AR Infantile: early nephrocalcinosis and progression to CKD/ESRF Child/adolescent form: recurrent urolithiasis, progression to ESRF Adult form: urolithiasis only

CF

AR CFTR mutations (freq 1/25). My have S. aureus, P. aeruginosa, B. cepacia and Aspergillus colonisation Neonates: failure to thrive, meconium ileus, rectal prolapse, prolonged neonatal jaundice, hypoproteinaemia/oedema older: cough, wheeze, recurrent infections, bronchiectasis, pneumothorax, RF, cor pulmonale pancreatic insufficiency (steatorrhea, DM), distal intestinal obstruction syndrome, gallstones, cirrhosis male infertility, osteoporosis, arthritis, vasculitis, nasal polyps, sinusitis, hypertrophic pulmonary osteoarthropathy cyanosis, finger clubbing, bilateral coarse crackles FBC, U+Es, LFTs, clotting, vit ADEK levels, sputum culture, faecal fat analysis, annual glucose tolerance test CXR: bronchiectasis, hyperinflation abdominal USS: fatty liver, cirrhosis, chronic pancreatitis spirometry: obstructive defect Sweat test: >40mmol/L suspicious (>30 in neonates), >60 diagnostic. False +ve - malnutrition, adrenal insufficiency, glycogen storage diseases, nephrogenic DI, hypo(para)thyroidism, G6PD, ectodermal dysplasias genetic studies are diagnostic. False -ve - skin oedema (hypoproteinaemia due to 2ndary pancreatic exocrine insufficiency) nonpharma: recommend an exercise routine, genetic counselling. High calorie, high fat diet, avoid contact w/ other CF due to cross infection w/ B. cepacia/P. aeruginosa Pharma: Ivacaftor (potentiates) or lumacaftor (brings to surface, combination called Orkambi), depending on specific mutations (for deltaF508 Chest PT+postural drainage (can be self-performed, flutter/acapello device) 2/d, nebulised mucolytics (Dornase alpha or hypertonic saline), azithromycin can be given for prophylaxis -> IV when poorly (or inhaled w/ pseudomonas). May need permanent venous port pancreatic enzyme replacement, ADEK + salt supplementation, high calorie diet, ursodeoxycholic acid, liver Tx if severe liver cirrhosis treat DM, osteoporosis, and other complications accordingly Distal intestinal obstruction: Lactulose + PO acetylcysteine as prophylaxis, PO single dose gastrografin (fluid intake for 3h after) for acute treatment Heart lung Tx definitive treatment. 40y prognosis Annual influenza vaccine

Pendred syndrome

AR PDS mutation Congenital bilateral sensorineural hearing loss and thyroid goitre with euthyroidism or mild hypothyroidism High uptake on isotope scan, characteristically displaced by potassium perchlorate

Schwachman-Diamond syndrome

AR SBDS Neutropenia > other 2 (infections), exocrine pancreatic enzyme insufficiency (diarrhoea, FTT), metaphyseal dysostosis, dental problems BM diagnostic BMT has low survival, Rx pancreatic enzymes

Spinal muscular atrophies

AR SMN deletion Type 0 (neonatal): v. severe with arthrogryposis Type 1 (Werdnig-Hoffman): severe, onset 1st mo. Bight eyes, severe hypotonia, frog-like posture, areflexia, wekaness (legs>arms), death by 2yo Type 2: onset first years of life w/ hypotonia, peripheral weakness, areflexia, scoliosis Type 3: adolescent onset, progressive weakness and gait disturbance, hypotonia, areflexia Complex, show fibrillation on EMG

Bartter's syndrome

AR deficiency of salt (NA/K/2Cl) transport in thick ascending loop of henle, causing RAAS overstimulation and raised prostaglanding synthesis Presents in childhood with failure to thrive, poor growth, muscle weakness, constipation. Polyuria, polydipsia, normal BP, and a hypokalaemic, hypochloraemic, metabolic alkalosis with hypercalciuria Different types, type 1 mimics loop diuretic Treat with K replacement (maintain K>3.5) and NSAIDs (indomethacin)+ Ksparing diuretic (spironolactone)

XP

AR photodermatosis caused by NER gene (XP-A to XP-G) mutations. Variable phenotype depending on gene mutated. Skin normal at birth, presents in first few years Easy sunburn/blistering to minimal sun exposure within 2yo, UVB-induced erythema of delayed onset, peaking in 2-3d (24h normally). Photophobia, xeroderma, irregular freckling and scarring of sun-exposed skin, hyperkeratotic lower lip (solar cheilitis), signs of premature photodamage (mottled hyperpigmented patches, hypopigmented macules, telangiectasia, solar keratoses) UBIQUITOUS skin cancer development - high mortality Eyelid freckling, loss of lashes, ectropion, conjunctival telangiectasia, dry eyes, corneal damage -> visual impairment Neuro (20% A-D): hyporeflexia, LD, seizures, deafness, ataxia, quadriparesis (due to neuron DNA damage) Confirm w/ skin biopsy STRINGENT photoprotection, with regular skin examination and protection from cigarette smoke. Tell to join XP support group which provides UV protective equipment PO retinoids may reduce cancer incidence All care should be in MDT

PKD

AR, decreased ATP production reduces RBC survival Neonatal jaundice, then haemolysis with splenomegaly and jaundice. B19 causes aplastic crisis Confirm with enzyme assay, Rx PO folate, transfusion when symptomatic, splenectomy if severe.

Fanconi's anaemia

AR, progressive BM failure Onset 4-10yo w/ bruising, purpura, insidious onset anaemia Associated w/: short stature, cafe au lait spots, skeletal abnormalities (upper limb + thumb), renal malformations, microcephaly, cryptorchidism, mental retardation, deafness, abnormal facies Thrombocytopenia -> pancytopenia BM: hypoplastic or megalobastic Cultured lymphocytes: chemically induced chromosomal breakages occur more easily Immunosuppression w/ steroids + androgens (oxymetholone). BMT curative for haem defects but standard prep is fatal so requires modification

Cholesteatoma

Abnormal focus of squamous epithelium (instead of normal simple cuboidal of middle ear) Congenital: epidermoid cyst Acquired: chronic eustachian tube dysfunction/recurrent infection. -ve pressure retracts pars flaccida allowing implantation of skin (Wittmaack's theory) Recurrent otitis media + otorrhoea, hearing loss, CNVII palsy, vertigo (depending on local invasion/destruction) COMPLICATIONS CHL: retraction pocket lies alongside incus. Cholesteatoma can erode blood supply, cuasing thinning and loss. Cholesteatoma can then connect stapes and malleus, causing temporary improvement CNVII palsy, vertigo, SNHL: invasion into bony canals Meningitis/cerebral abscess: extensive cholesteatoma can erode through superior wall, allowing tracking of infection to cranium Treat any current infection. CT scan for local invasion 'attic crust' on otoscopy Prophylaxis: grommet prevents pars flaccida retraction Early: clean out retraction pocket (may require GA) Late (SURGERY) Atticotomy: only if limited to attic. Removal via tympanic membrane Atticoantrostomy: more extensive, mastoid antrum opened Modified radical mastoidectomy: for cholesteatoma travelling back into mastoid. Removed, then mastoid system joined to EAC via posteriory bony wall of EAC. Cavity lined with temporalis fascia, mucosalises with time. This ensures easy access for microscopes, and that infection drainage occurs via EAC rather than upwards into cranium. Annual suction clearsance of cavity required Combined approach tympanoplasty: as above, but no connection to EAC, so 2nd op required to check after 1y Ossiculoplasty: reconstruction of ossicular chain using incus, cartilage, prosthesis. 50% success rate

Hypospadias

Abnormal position of external urethral meatus. Most commonly distal ventral surface (glanular>coronal>distal penile>proximal penile> penoscrotal>scrotal>perineal) May be associated with chordee (ventral curvature of penis) and hooded prepuce. 40% other urological abnormalities (cryptorchidism most common) difficulty urinating while standing, penile cosmetically different. Sexual function unaffected (unless chordee, which can cause painful erections) Document diagnosis, advise parents NOT to circumcise child, refer to paediatric surgeon Surgery: straightening of chordee, reconstruction of urethra into glans. May involve tubularising skin from prepuce, hence no circumcision

Delayed puberty

Absence of menstruation and secondary sexual characteristics by 14yo (16yo for males) Primary amenorrhoea: absence of menstruation with normal secondary sexual characteristics by 16yo Secondary amenorrhoea: no periods for >6mo Causes Constitutional delay Chronic systemic disease Weight loss/excessive exercise (always consider anorexia nervosa!) Hypogonadotrophic hypogonadism (pituitary tumours/hypopit, Kallman's) Ovarian failure (Turner's, Swyer's, iatrogenic) Work-up Examine visual fields (bitemporal hemianopia) TFTs, LH/FSH, testosterone, prolactin (if >1500mU/L MRI head) Karyotype Pelvic USS/MRI GnRH test, for M hCG stimulation (3 or 21d) test Treatment Depends on ddx, but puberty can be induced with low-dose oestrogen and GH

Radial dysplasia

Absent or hypoplastic radius causing abnormal radial deviation of hand, often with congenitally absent thumb TAR FA Holt Oram (AD cardiac anomalies + radial dysplasia) VACTERL: Vertebral anomalies, anal atresia, cardiac malformations, tracheo-oesophageal fistula, renal and limb anomalies Serial castings/splinting Surgery: pollicisation of index finger

Blood film abnormalities

Acanthocytes: spicules on RBCs due to unstable RBC membrane lipid structure. Splenectomy, alcoholic liver disease, abetalipoproteinaemia, spherocytosis, vit E deficiency in prem neonates Basophilia: CML, basophilic leukaemia, reactive (IBD, infection) Basophilic stippling: Denatured RNA in RBCs, indicating accelerated erythropoiesis or defective Hb synthesis. Lead poisoning, megaloblastic anaemia, recovering BM, myelodysplasia, liver disease, haemoglobinopathy (thalassaemia) Echinocytes (Burr cells): RBC projections less marked than acanthocytosis. Renal failure, liver failure, PKU, HUS, burns, EDTA storage artefact Elliptocytes: hereditary elliptocytosis Schistocytes: RBC fragments. MAHA (DIC, HUS, renal failure) Heinz bodies: intracellular Hb precipitate. G6PD deficiency, haemoglobinopathies, post-splenectomy/hyposplenism, Heinz body haemolysis Howell-Jolly bodies: DNA nuclear remnants in RBC normally removed by spleen. Normal in neonates. Hyposplenia/splenectomy, megaloblastic anaemia Reticulocytes: Young, larger RBCs containing RNA signifying active erythropoiesis. Increased in haemolysis, haemorrhage, haematinic replacement, BM infiltration Sickle cells: SCA Spherocytes: normal neonatal. Hereditary spherocytosis, immune mediated haemolytic disease, splenectomy Target cells: aka Mexican hat cell. RBC with central staining, ring of pallor, then outer ring of staining. Liver disease, hyposplenism/splenectomy, thalassaemia, SCA. Also severe IDA, but in small numbers

EM

Acute, self-limited, triggered by infections (HSV most common, orf, histoplasmosis, VZV, CMV), and drugs (<10%). Generally resolves within 4w - persistent EM rare, associated with EBV, CMV, HSV, IBD and malignancy Symmetrical well defined round erythematous macules on knees, elbows, palms evolving into papules and target lesions (central dusky purple zone, outer red zone, middle white zone), which blister over days. Rarely widespread. Multiform (different crops at different stages), with mucosal (usually oral) ulceration. Skin lesions persist >=7d (cf urticaria <48h) Skin biopsy to confirm, swab oral lesions for viral culture Mouth: mouthwash for pain relief Cutaneous: potenet topical steroids relieve discomfort but do not shorten course of disease If recurrent, consider prophylactic acyclovir

Achondroplasia

Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to: short limbs (rhizomelia) with shortened fingers (brachydactyly) large head with frontal bossing and narrow foramen magnum midface hypoplasia with a flattened nasal bridge 'trident' hands lumbar lordosis In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion. Treatment There is no specific therapy. However, some individuals benefit from limb lengthening procedures. These usually involve application of Ilizarov frames and targeted bone fractures. A clearly defined need and end point is the cornerstone of achieving success with such procedures.

Haemolytic anaemia

Acquired Immune-mediated/DAT +ve: Penicillin (binds to haptens on RBC membrane), Quinine (produces ICs), AIHA, Paroxysmal cold haemoglobinuria, Isoimmune (acute transfusion reaction, haemolysis of the newborn) Coombs -ve AIHA: autoimmune hepatitis, HBV/HCV, post-vaccination/flu, drugs (piperacillin, rituximab) MAHA: HUS, TTP, DIC, (pre-)eclampsia, prosthetic heart valve Infection: Malaria (blackwater fever), any infection can exacerbate hameolysis Paroxysmal nocturnal haemoglobinuria Hereditary Enzymes: G6PD deficiency, pyruvate kinase deficiency Membrane defects: hereditary spherocytosis, hereditary elliptocytosis, hereditary ovalocytosis, heriditary stomatocytosis Haemoglobinopathy: sickle cell disease, thalassaemia Increased RBC breakdown: anaemia, unconjugated hyperbilirubinaemia, high urinary urobilinogen, high serum LDH (released from RBCs) Increased RBC production: macrocytosis, reticulocytosis, polychromasia Intravascular haemolysis: raised free plasma Hb, methaemalbuminaemia, reduced haptoglobins, haemoglobinuria (red-brown urine), haemosiderinuria (tubular cells store Hb as haemosiderin, then slough off - implies chronic intravascular haemolysis) Extravascular haemolysis: splenomegaly Osmotic fragility testing: membrane defects Hb electrophoresis: haemoglobinopathies DAT/Coomb's: Immune-mediated. In kids check for red cell isoimmune Abs Enzyme assays: enzyme deficiency

Cellulitis/erysipelas

Acute infections of dermis/subcutaneous tissue, caused by S. pyogenes (S. aureus usually in immunosuppressed/DM). Erysipelas = dermis, cellulitis = deep dermis and subcut RF: defective skin barrier (eczema, tinea pedis, leg ulcers, wounds), DM/immunosuppression, chronic lymphoedema (due to impaired immune cell transport - vicious cycle as each episode damages lymphatics more), PVD, PMHx Sudden onset pain, preceded by malaise, fever and rigors (not elderly). Asymmetrical warm tender spreading erythema (particularly well demarcated in erysipelas), swelling, sometimes blisters, ascending lymphangiitis, lymphadenopathy May have chronic lymphoedema - firm non-pitting oedema, Stemmer sign (thickened 2-3rd toe web skin makes it impossible to pinch skin at base of 2nd toe), papillomatous thickening of skin (elephantitis nostra), fluid filled blebs (lymphoceles) No skin swabs unless open wound or exudate (chronic leg ulcers never sterile), blood culture (bacteraemia common) IV Abx (fluclox and benzylpenicillin), elevate affected part. If <5yo and unvaccinated, cefotaxime instead of penicillin Recurrent cellulitis/lymphoedema: skin care (antiseptic washes, emollients to prevent cracking, tinea pedis Rx), compression hosiery (control limb swelling), prophylactic penicillin V >=6mo

Myocarditis

Aeitiology: Idiopathic (50%) Viral, bacterial Spirochaetes (syphilis, leptospirosis, lyume) Protozoa (Chagas, Leishmania, toxoplasmosis) iatrogenic (Cyclophosphamide, trastuzumab, penicillin, chloramphenicol, sulfonamides, methyldopa, spironolactone, phenytoin, carbamezepine) Toxins (cocaine, lithium, alcohol, lead, arsenic) Immunological (SLE, sarcoid, kawasaki, scleroderma, Tx rejection) ACS-like symptoms, HF symptoms, sudden onset ventricular arrhythmias, palpitations, tachycardia, distant heart sounds, gallop rhythm, weak pulses ECG (ST-t changes, QT prolongation) CRP, ESR, cardiac enzymes, viral serologies, specific tests Echo, cardiac MR, endomyocardial biopsy gold standard Supportive. Avoid exercise due to arrhythmias can become DCM even after recovery

Eczema

Aka dermatitis. Oedema intra/interkeratocytes (spongiosis) causes weeping thin-walled intraepidermal vesicles, rapidly rupturing General: itchy, symmetrical if endogenous, localised if exogenous. Acute - ill defined erythema, excoriations, papules, oedema, vesicles (occasionally bullae), exudation of serous fluid (weeping). Subacute - scaling and crusting. Chronic - thickened skin, increased skin markings (lichenification), prurigo, hyperkeratosis, hyperpigmentation. Resolution - post-inflammatory hypo/erpigmentation Swab crusted weeping eczema to check for 2ndary infection EXOGENOUS Contact dermatitis: skin exposed to irritant (urine/faeces - buttocks/perineum in incontinent. Detergens, alkalis, solvents, cutting oils, plant furocoumarin. Most common) or allergens (T4HR, must have prior sensitisation. Nickel-jewlerry, chrome-cement/leather, fragrances/creams/paints, etc) Rx: minimise contact w/ irritants, patch test and complete avoidance of allergens. Emollients, potent topical steroid. PO pred if severe blistering reaction ENDOGENOUS Atopic dermatitis: common in childhood, 60% clear by puberty, others persist. Generally chronic, itch-related signs seen (dry scaly erythematous symmetrical rash with flexural accentuation, with excoriations, prurigo and lichenification). In infants trunk and face, younger kids extensor surfaces, older kids typical (flexor surfaces, flexural accentuation). Beware widespread vesicles and fever (eczema herpeticum), and irritant contact dermatitis. IF NO PMHx or FHx of atopy, biopsy for CTCL Rx: soap substitutes and emollients. Potent topical steroid or tacrolimus (if topical steroids used, first emollients, then wait 30min, then steroid). Sedating antiH for irritation. PO pred short course for severe flares. For severe chronic disease, phototherapy, steroid-sparing agents (azathioprine, ciclosporin), wet dressings Seborrhoeic dermatitis: idiopathic, although Malassezia furfur (pityrosporum ovale) found in high conc. Chronic and recurrent, found in Parkinson's and epilepsy, HIV causes severe disease. Not itchy but disfiguring Poorly defined scalp erythema and fine white scale (dandruff, hair retained), greasy scaly erythema of nasolabial folds and central forehead. Fine scaling in eyebrows, behind ears, EAC (otitis externa), blepharitis. Orangey ill-defined erythema w/ fine scale in flexures, greasy scaly erythematous papules in central chest and back (can be annular). Follicular papules/pustules over back and chest (pityrosporum folliculitis). NORMAL NAILS (to differentiate from flexural/sebopsoriasis). Can cause erythroderma Rx: greasy emollient, soap substitute, hydrocortisone ointment + imidazole (steroid + antifungal combination ointments). Can also use moderately potent or tacrolimus, and ketoconazole shampoo. Potent steroid lotion overnight for scalp Asteatotic dermatitis: mildly itchy, typically elderly precipitated by hospital admission (enthusiastic soapy washing, low humidity and central heating dries out old skin Network of shallow erythematous fissures in epidermis, 'crazy paving' appearance (eczema craquele), starting on shins and spreading in patchy fashion to thighs and trunk Rx: soap substitutes, emollients, mild topical steroid Varicose (stasis) dermatitis: itching, erythema, scaling, crusting (no pain) in gaiter area w/ signs of stasis (hyperpigmentation, oedema, atrophie blanche, venous leg ulcers Rx: exclude PVD, treat venous stasis (ankle exercises, elevation, compression), give emollients + moderately potent steroid topical. Consider ichthammol/zinc-mediated bandages Discoid (nummular) dermatitis: many well defined extremely itchy, juicy, round/oval erythematous papules and plaques that are scaly or vesicular (never vesicular in psoriasis), symmetrically distributed on limbs and trunk. NORMAL NAILS Rx: soap substitute, emollient, very potent topical steroid. Sedating antihistamine ON to avoid nocturnal irritation Dyshidrotic dermatitis (pompholyx/cheiropompholyx): itchy erythema and pin-head sized vesicles that may evolve into bullae, found on sides of fingers and centre of palms and soles. Rash worse in hot weather, settles and desquamates over 3-4w Rx: soothe skin with potassium permangenate soaks or aluminium acetate solution (Burow solution). Potent topical steroid

Benign idiopathic nocturnal limb pains of childhood

Aka growing pains - misnomer! Not to do with growing Child 3-12yo with pain in the legs with no obvious cause. Never present at start of day, no limp, limitation of physical activity. Systemically well, normal o/e, motor milestones. Symptoms intermittent, worse after day of vigorous activity

Juvenile myelomonocytic leukaemia

Aka juvenile CML. Rare, <2yo, associated w/ monosomy 7, NF1, Noonan's. Poor response to chemo, BMT to cure

Osteopetrosis

Aka marble bone disease, Albers-Schonberg disease. Defect in osteoclasts causes very hard, dense, brittle 'marble bones'. Malignant/infantile type: AR, severe skeletal deformity at birth, poor prognosis, BMT may help Benign type: AD, later childhood/adult onset, prone to frequent #s Face: macrocephaly, hydrocephalus, abnormal eyes (OA, partial CNIII paralysis), compression of other CN (deafness, CNVII palsy) Teeth: late eruption, early caries, osteomyelitis, necrosis of mandible Limbs: generalised osteosclerosis, fragile bones, #s difficuly to fixed, delayed union, dwarfism Haem: BM failure leads to pancytopenia and hepatosplenomegaly (extramedullary haematopoiesis) Kidney: T1RTA XR: marble bone Skull: underdeveloped mastoid air cells and paranasal sinuses Long bones: Erlenmeyer flask Phalanges: dense transverse band in metaphysis close to epiphyseal line Metacarpals: characteristic 'bone within a bone' appearance Vertebral bones: Sandwich/rigger jersey appearance (sclerotic upper and lower plates) Bone scan: increased epiphyseal uptake Rx mainly supportive, steroids may help, BMTx can help. Malignant type die within 10y

Hypercalcaemia

Albumin and urea raised: dehydration Albumin raised, urea normal: cuffed specimen Albumin norm/low, PO4 norm/low, urea normal: primary or tertiary hyperparathyroidism Albumin norm/low, PO4 norm/hi, ALP normal Myeloma Vit D excess Sarcoidosis Milk-alkali syndrome Albumin norm/low, PO4 norm/hi, ALP high Bone mets Sarcoidosis Thyrotoxicosis Lithium Kids William's syndrome Idiopathic infantile hypercalcaemia (resolves by 1y) Familial hypocalciuric hypercalcaemia Abdo pain, vomiting, constipation, polyuria, polydipsia, depression, anorexia, weight loss, tiredness, weakness, HTN, confusion, pyrexia, renal stones, renal failure, ectopic calcification (eg cornea, nephrocalcinosis), cardiac arrest (Bones, stones, abdominal groans and pychiatric moans) ECG shows short QT interval Treat underlying cause If >3.5 and symptomatic: IV NS, IV bisphosphonates (single dose will normalise Ca within 1w). Furosemide controversial, as can dehydrate, worsening hypercalcaemia

NHL

All lymphomas without Reed-Sternberg cells. Most are B-cell derived, with DLBCL being commonest. Associated with immunodeficiency (HIV, HTLV-1, drugs). Superficial lymphadenopathy Gastric MALT lymphoma: usually due to H. pylori, disappears with eradication. Usually in antrum, metastasises late. Presents as gastric carcinoma + systemic features non-MALT gastric lymphomas: usually DLBCL Small bowel lymphomas: IPSID or EATCL. Present with diarrhoea, vomiting, abdo pain, weight loss. Poor prognosis Skin: mucosis fungoides (clonal T cells), Sezary syndrome (Sezary cells, erythroderma) Oropharynx: Waldeyers ring lymphoma presents with sore throat/obstructed breathing Also at bone, CNS, lung Systemic features: fever, night sweats, weight loss. Indicates disseminated disease FBC (pancytopenia if BM infiltration), U+E, LFT, LDH Marrow/node biopsy for diagnosis CT/PET chest/abdo/pelvis for staging (Ann Arbor) Cytology for effusions, LP for CNS involvement Low grade lymphomas: indolent, incurable, widely disseminated. Follicular lymphoma (buttock cells with cleaved nuclei, BCL-2 mutation), marginal zone lymphoma (villous lymphocytes), lymphocytic lymphoma (closely related to CLL, treated similarly), plasmacytoid lymphoma (Waldenstrom's macroglobulinaemia) High grade lymphomas: aggressive but curable. Rapidly enlarging lymphadenopathy with systemic symptoms. Burkitt's lymphoma (characteristic jaw lymphadenopathy of childhood with c-MYC mutation), lymphoblastic lymphoma (like ALL), DLBCL St Jude system I: single site/node - not abdo or mediastinal disease II: regional nodes, abdo disease III: both sides of diaphragm VI: spread beyond lymph nodes (BM, liver, etc) suffix: a (no b symptoms), b (b symptoms), e (localised extranodal disease) Low grade: observation if asymptomatic. Radiotherapy for localised, chlorambucil for disseminated. Remission maintained with IFNa and rituximab High grade: R-CHOP Rituximab, Cyclophosphamide, Hydroxydaunorubicin, Oncovin (vincristine), Prednisolone. G-CSF often given for neutropenia LDH poor prognostic marker for all lymphomas

Inguinal hernias

Almost invariably groin hernia = inguinal hernia in kids. M>F, R>L (later descent of R testis), 15% b/l, usually asymptomatic Reducible swelling in groin, may extend into scrotum Surgical herniotomy. If <1yo, within weeks of diagnosis due to high risk of incarceration (less >1yo) Incarceration: intestinal obstruction, 30% testicular infarction (pressure on gonadal vessels). Resuscitate, then reduce by taxis (may require morphine). If irreducible, emergency surgical exploration (rare). If reduced, 24-48h for oedema to settle, then herniotomy

Hirschsprung's disease

Associated with Downs, M>F. Failure of ganglion cells to migrate into hindgut, so absence of co-ordinated peristalsis and functional obstruction at junction between normal and distal aganglionic bowel (80% rectum or sigmoid - short segment disease. 20% entire colon - long segment disease) First few days of life w/ low intestinal obstruction (failure to pass meconium, abdo distension, bile-stained vomiting. 99% pass meconium 24h postpartum. Occasionally w/ mild short segment disease, present in childhood w/ chronic constipation AXR: distal intestinal obstruction Full thickness rectal biopsy: no ganglion cells in submucosa, required to diagnose Anal washouts first. Then - Traditionally 3-stage procedure: defunctioning colostomy (multiple biopsies to confirm transition zone), pull through procedure (bring ganglionic bowel down to anus), closure of colostomy Now many use single stage pull through, managing interim obstruction with rectal washouts Only 5% go on to require permanent stoma. Most important complication is enterocolitis - dramatic illness characterised by abdo distension, bloody watery diarrhoea, circulatory collapse, sepsis. Associated w/ C. dif in stools, mortality 10%

IIH

Associated with: Cushing's, hypoparathyroidism, hypo/hyperthyroidism, SLE, CKD, polycythaemia rubra vera, iron deficiency anaemia, drugs (tetracycline, steroids, nitrofurantoin, OCP) Obese 30-39yo females present with high ICP headache, narrowed visual fields, blurred vision, diplopia, CNVI palsy, enlarged blind spot, papilloedema Weight loss, acetazolamide or topiramate, loop diuretics and prednisolone If refractory, optic nerve sheath fenestration or lumbar-peritoneal shunts are surgical options BEWARE, can mimic CVST. DO NOT DIAGNOSE in kids before ruling out tumours blocking CSF flow and CVST

MG

AutoAbs against nAchR. Associated with autoimmune disease. If<50, female, thymic hyperplasia. If>50, male, thymic atrophy, thymic tumour Slowly increasing/relapsing muscular fatigue affecting muscular groups in order: extraocular, bulbar (swallowing/chewing), face, neck, limb girdle, trunk Ptosis, diplopia, myasthenic snarl on smiling, 'peek sign', Ice-cube test, Tensilon test (edrophonium, rarely used), voice fades when counting to 50. Reflexes normal. 90% have anti-AChR Abs, if -ve look for MuSK Abs EMG: decremental muscle response to repetitive stimulation, increased single-fibre jitter CT: exclude thymoma AChE: pyridostigmine Prednisolone: to treat relapses. Start low, gradually increase. Remission may take months. Azothioprine, cyclosporin, MMF are alternatives Thymectomy: beneficial even w/o thymoma. Younger pts <5y since onset, refractory to medical therapy

Alopecia areata

Autoimmune. any age. Can be totalis (all scalp) or universalis (all hair). Hair typically regrows after 6-12mo, but can be recurrent - larger are = poorer prognosis Scarring alopecia: commonest cause aplasia cutis - absent patches of skin presnting w/ raw red ulcer at birth healing w/ scarring Congenital diffuse alopecia: rare AR - born with hair but irreversibly lose over next few months Monilethrix: rare AD causes brittle hair that grows 1-2cm then breaks "beaded necklace appearance"

A1ATD

Autosomal co-dominant inherited disorder affecting lung+liver. Medium (M), slow (S) and very slow (Z) - MM normal, ZZ high risk, MZ/SZ low risk (no liver disease) Serine protease inhibitor (serpinopathy). Inhibits elastase in lung, so deficiency causes emphysema (adults). Children more commonly present with liver disease Dyspnoea from emphysema, cirrhosis, cholestatic jaundice in infancy remitting in adolescence Serum A1AT: usually <75% of low limit of normal, but acute phase protein so inflammation may mask PFTs: obstructive Liver biopsy: Periodic acid Schiff +ve, diastase resistant globules Genetic phenotyping - prenatal diagnosis possible with chorionic villii sampling Smoking cessation, lung vaccines pooled human IV A1AT may prevent AEoCOPD. Inhaled A1AT is an emerging treatment Liver Tx for decompensated cirrhosis, Lung Tx for end stage COPD Emphysema usually cause of death

B12 deficiency

B12 found in meat, fish, dairy products but not plants. Binds IF in stomach, then absorbed in terminal ileum. Body stores last 4y. If folate supplemented, B12 deficiency may exist w/o anaemia! Beware Dietary: vegans Malabsorption: pernicious anaemia, gastrectomy, ileal resection, Crohn's, bacterial overgrowth, tropical sprue, tapeworms Congenital metabolic errors General: symptoms of anaemia, 'lemon tinged' skin (combination of pallor from anaemia and jaundice from haemolysis), glossitis, angular cheilosis Neuropsychiatric: irritabilitiy, depression, psychosis, dementia Neurological: paraesthesiae, peripheral neuropathy, hypotonia Subacute combined degeneration of the spinal cord: combined degeneration of dorsal columns (sensory and LMN) and corticospinal tracts (motor and UMN). JPS and vibration sense affected first, leading to ataxia, stiffness and weakness. Then Peripheral sensory neuropathy with UMN AND LMN signs. Classic triad of extensor plantars, absent knee jerks and absent ankle jerk. Temperature and pain sensation preserved Low Hb, high MCV, low WCC/plt if severe, decreased serum B12. May be low reticulocytes, hypersegmented neutrophils, and megaloblasts in marrow. Serology for PA B12 IM once every 2d for 2w or until CNS improvement stops. Watch K (may drop). Then Malabsorption: B12 IM once every 3mo for life Dietary: B12 PO between meals If treatment working, a marked reticulocytosis will occur after 4-5d Hb increases at 10/w, beware of iron deficiency and hypokalaemia as both are encorporated into new RBCs. Peripheral neuropathy improves, but cord signs are irreversible

Balanitis

Balanitis/balanoposthitis Inflammation of prepuce + glans Lifestyle: poor hygiene, local irritants (soaps, spermicides) Fungal: Candida non-STI bacteria: coliforms, GBS STI bacteria: N. gon, C. trac, T. palli, HSV Dermatoses: Lichen sclerosis, Lichen planus, Zoon's Balanitis, Reiter's syndrome, psoriasis, eczema, contact dermatitis Drugs: amoxicillin, paracetamol, salicylates, tetracyclines, propanolol, quinine, chlordiazepoxide pain, erythema, discharge, difficulty retracting prepuce, voiding dysfunction. 5d trimethoprim or amoxicillin. Betamethasone cream can be used to improve retractability

Overgrowth

Beckwith-Wiedemann: Macrosomia, polyhydramnios, preterm delivery. Exomphalmos/umbilical hernia, dysmorphism (ear lobe creases, PWS, macroglossia, visceromegaly, hemihypertrophy. Severe risk of neonatal hypoglycaemia, Wilms tumour. Macrosomia improves w/ age Sotos: NSD1 mutation, prenatal overgrowth persisting into preschool years with final height above average. Tall skull, prominent broad forehead, pointed chin. Mild-severe developmental delay, sometimes seizures

Idiopathic focal epilepsy

Benign childhood epilepsy with centrotemporal spikes (Rolandic epilepsy): nocturnal sensorimotor seizures, onset i/l face/hand spreading downwards and generalising. EEG normal but in slow wave sleep shows centrotemporal spike and wave Benign childhood occipital seizure syndrome (Panayiotopoulos syndrome): 1-7yo , prolonged stereotyped episodes of encephalopathy (<30min) and bizarre seizures w/ post-ictal vomiting, headache and eye deviation. Good prognosis Landau-Kleffner syndrome (LKS): intellectual regression w/ relatively few seizures, striking language impairement (epileptic aphasia), EEG normal but abnormal in sleep. Refractory, steroids may help

Paroxysmal epilepsy-like syndromes

Breath-holding attacks (>6mo age): noxious stimulus (eg head bang) causes short cry and then child goes limp (syncope), collapses to floor and may have brief jerking (reflex anoxic seizure-RAS). Can also have blue breath holding with extensive crying, building up and then syncope after expiration. Though to be due to hypersensitive vasovagal reflex Masturbation/gratification phenomena: in girls, legs held outstreched, eyes glazed, sweaty Febrile myoclonus BPPV Benign paroxysmal torticollis Night terrors: after 1-2h in bed, suddenly wakes up,inconsolable for 10-20min, then realises, looks confused, rolls over and sleeps again Daydreaming: can mimic absence seizures, but not inducible and only happen at school Psychologically determined paroxysmal events (PDPE): triggered by specific situations, non-anatomical (left arm then right leg), pelvic thrusting, thrashing movements that wax and wane, eye opening, dramatic slumping to floor, falls w/o injury, rapid return to normal

Hereditary angioedema

C1 esterase inhbitior deficiency, causing angioedema (mucosal swelling) but now urticaria. May have vomiting/abdo pain, and prodromal fatigue, malaise, irritability Rx: C1 esterase inhibitor, tranexamic acid

Congenital adrenal hyperplasia

CAH. AR 21A-hydroxylase deficiency (90%), 11b/17A-hydroxylase or 3b hydroxysteroid dehydrogenase, SCC Classic: severe salt wasting with acute adrenal crisis in early infancy (males 7-10d), or simple virilising form with maculinisation of external genitalia (females at birth) Non-classic/late onset: females with mild androgen excess around puberty Classic: elevated plasma 17-hydroxyprogesterone and 21-deoxycortisol levels, and increased urinary adrenocorticosteroid metabolites. Beware natural hormone surge occurs in first 2d of life normally, so repeat in 48h Steroid replacement, mineralocorticoid replacement if salt wasting, NaCl therapy if mineralocorticoid therapy resistant (infants) Urogenital surgery for virilisation of females

Congenital hernia

CDH. Typically posterolateral (Bochdalek) L sided defect, through which GIT protrudes and causes pulmonary hypoplasia. Most seen on antenatal USS (20% survive) At birth, respiratory distress, scaphoid abdomen, apparent dextrocardia (60% survive). Can be asymptomatic and discovered in childhood (typically anterior Morgagni defects, excellent prognosis) Neonatal: sedation, paralysis, endotracheal intubation w/ mechanical ventilation on 100% O2. NGT placement. If pulmonary hypoplasia good enough to survive, defect closed by primary suture or prosthetic patch Hiatus hernia (HIH): stomach herniates into chest via oesophageal hiatus, moving LES (which becomes incompetent). Children present w/ GOR. Can be sliding or rolling. Diagnosis made radiologically by barium meal. Rx medical management of GOR, then surgery if refractory, complicated (peptic stricture) or paraoesophageal (rolling, risk of incarceration and infarction of herniated stomach). Repair hernia, fundoplication to prevent

Septic arthritis

Can destroy joint in 24h, 11% mortality. >50% are in the knee, <2yo, male <12mo: S. aureus, GBS, gram -ve bacilli, Candida 1-5yo: S> aureus, Hib, GAS, S. pneumoniae, K. kingae, N. gonorrhoea (sexual abuse) 5-12yo: S. aureus, GAS 12-18yo: S. aureus, N. gonorrhoea (sexually active) RF: pre-existing joint disease (esp RA), DM, immunosuppression, CKD, recent joint surgery, prosthetic joints, IVDU, >80yo Infants characteristically do not appear ill, 50% no fever Older: acute onset reduced RoM/pseudoparalysis, pain on passive motion, hot warm swollen non-weightbearing joint, systemic symptoms Kocher criteria: CRP/ESR>20/40, temp>38.5, WCC>12, non-weightbearing URGENT joint aspiration (microscopy+culture), CRP/XR may be normal. Do blood cultures before Abx If in doubt, start empirical IV Abx Flucloxacillin standard Vanc+ceph if MRSA suspected Ceph if gram -ve suspected Ceftriaxone for Nisseria spp All for 2w IV, then 2-4w PO Splinting limb helps Consider orthopaedic review for arthrocentesis, washout and debridement. URGENTLY refer prosthetic joint infections (v. hard to treat)

Meningitis

Caused by N. meningitidis, S. pneumoniae. Also H. influenzae, L. monocytogenes, HSV, VZV, enteroviruses, CMV, cryptococcus, TB 75% <15yo <3mo: GBS, E. coli/gram -ves, L. monocytogenes 1mo-6yo: meningococcus, pnuemococcus, hib >6yo: meningococcus, pneumococcus KIDS fever, vomiting, anorexia, irritability, disorientation, altered mental state. Seizures in 30%. Papilloedema is late sign. TYPICAL MENINGISM SIGNS WILL BE ABSENT IN KIDS. Low threshold for LP as part of septic screen. CI if raised ICP (in kids usually indicated by transient episodes of badycardia + HTN) Early: headache, fever, leg pains, cold extremities, abnormal skin colour Late: meningism (neck stiffness, photophobia, Kernig's and Brudzinski's sign), reduced GCS/coma, seizures (20%), focal CNS signs (20%), opisthotonus, non-blanching petichial rash, shock (CRT>2, DIC, hypotension) If primary care benzylpenicillin 1.2g IM (1-9yo 600mg, <1yo 300mg) If high ICP contact ICU immediately If meningism dexamethasone 10mg/6h IV (>3mo) Take blood cultures, then perform LP if no shock, rash or high ICP and can be done in <1h. Otherwise start Abx pre-LP: ceftriaxone 2g/12h IV, with amoxicillin 2g/4h if >60yo or immunocomprimised. DO NOT do LP until stable FBC, U+E, LFT, glucose, coagulation, throat swabs (bacteriology and virology), CXR. Consider HIV, TB tests Prophylaxis: give ciprofloxacin 500mg 1 dose to household contacts in droplet range and those who kissed patient's mouth, ceftriaxone/rifampicin 2nd line <3mo IV amox + cefotaxime >3mo IV cefotaxime >1mo + Hib, dexamethasone CSF Bacterial: turbid, polymorphs, glucose <.5 of plasma, protein>1.5g/L, +ve smear/culture TB: fibrin web, mononuclear cells, glucose <.5 of plasma, protein 1-5, -ve smear +ve culture Viral: clear, mononuclear cells, glucose >.5 plasma, protein <1g/L, -ve smear/culture normal: <5 lymphocytes, no neutrophils, protein .15-.45g/L, glucose 2.8-4.2mmol/L, opening pressure 7-18cmH2O ALL have high opening pressure and increased cell count (10-1000)

ITP

Caused by anti-platelet (gpIIb/IIIa or Ib/V/IX compleces)auto-Abs. Acute: typically children 2-5yo with sudden self-limiting purpura/petichiae/bruising ~2w after viral infection. >80% resolve within 6-8w Chronic: Typically women with fluctuating bleeding, purpura (esp. pressure areas), epistaxis and menorrhagia, no splenomegaly plt low, plt size hi due to compensatory megakaryocytosis Megakaryocytosis in BM, anti-platelet auto-Abs often found Observation if mild Moderate bleeding: tranexamic acid <5d If symptomatic or platelets<20, give pred then taper Platelet infusions not useful due to rapid destruction, only in life-threatening (intracranial) haemorrhage or during splenectomy IVIg can temporarily increase platelet count (2nd line after pred) If relapse, consider splenectomy, rituximab, eltrombopag (thrombopoietin receptor agonist PO) or romiplostim (injectable thrombopoietin analogue)

Anaesthesia

Check Hb, crossmatch >=1U Fasting: food 6h, formula 6h, breast milk 6h, clear fluids 2h NG aspirates should be replace ml by ml with 0.9% NS + 20mmol/L KCl Following abdo surgery, paralytic ileus for 36-48h. Insert NGT on free drainage for this time. After this, IV fluids can be discontinued, PO fluids can resume. For other surgeries, can start PO fluids straight away For OA repair, transanastomotic tue (TAT) left in situ to facilitate early enteral feeding. DO NOT attempt to reinsert if falls out w/o advice (may perforate anastomosis. <44w CGA must be transferred to NICU postop due to high risk of apnoea post-GA Minor cases: back to normal within 24h, off school 2-3d, excused from PE 2w

Cerebral palsy

Chronic disorder of movement, presenting <2yo due to static injury to developing brain. Most have mixed disorder Antenatal: cerebral malfromations, congenital infection Natal: birth trauma/asphyxia Postnatal: IVH, meningitis, head trauma Spastic (pyramidal tracts): most common - hemi, di or quadriplegic. Hypertonia/reflexia, clasp-knife phenomenon/catch. Ankle plantarflexion + valgus or varus foot deformity. hip flexion, adduction, internal rotation. Wrist flexion and pronation, elbow flexion, shoulder adduction. Spastic bulbar muscles cause dysphagia and dribbling Choreoathetosis (basal ganglia): all limbs greatly increased tone whilst awake, reduced during sleep. Gradually fixed RoM reduction Ataxic: aka disequilibrium syndrome. Striking loss of balance in childhood + mild diplegia ALL may have LD, epilepsy, squints, hearing impairment Beware dopamine-responsive dystonia, consider trial of co-careldopa MRI to confirm Rx multidisciplinary, including SALT, PT/OT, educational support (may have LD)

Psoriasis

Chronic inflammatory skin condition, peaks 16-22yo and 57-60yo. Remits spontaneously in 1/3. Hyperproliferative epidermis w/ inflammatory T-cell dense dermis. Genetic susceptibility with PSORS1-13 (PSORS1 - guttate psoriasis) Psoriasis triggers Infections: B-haem strep tonsillitis/pharyngitis, HIV Drugs: Bblockers, antimalarials, lithium, IFN, alcohol, TNF antagonists, steroid rebound Trauma: Koebner phenomenon Hormones: pregnancy can make better or worse Stress/emotional upset Sunlight: usually improves, but in 10% worsens Symptoms: itch, bleeding from skin, scaling, showers of "dandruff", pain (from fissures on palms and soles). Complications: sero-ve SpA (psoriatic arthritis), Crohn's, metabolic syndrome, anxiety/depression Psoriasis vulgaris (plaque psoriasis): commonest. Well defined pinkish scaly plaques of variable size, thickness and shape in symmetrical pattern, prediliction for extensor surfaces (KIDS - facial and napkin psoriasis more common). Examine elbows, knees, hairline, trunk. Silvery scale thick if untreated, minimal w/ topical steroids. May have bleeding points where scratched, and Koebner phenomenon at sites of trauma. Once improved, may show post-inflammatory hyper/hypopigmentation Scalp: 'dandruff', scales not obvious on inspection, palpate to find Guttate psoriasis: in children and adolescents, acute form triggered by b-haem strep tonsillitis/pharyngitis, 2-3w after infection, resolving in 3-4mo. Can progress to psoriasis vulgaris Sudden widespread teardrop-sized erythematous scaly papules, mainly on trunk Flexural psoriasis: well defined shiny erythematous plaques in flexures (inframammary, umbilicus, axilla, groin, natal cleft). Resembles fungal infection (as no scaling), but symmetrical Sebopsoriasis: ill-defined erythematous greasy slightly scaly skin of nasolabial folds, eyebrows, behind/within ears and scalp (resembling seborrhoeic dermatitis) Erythrodermic psoriasis: usually due to exacerbation (eg steroid rebound). Rx for erythroderma/skin failure Generalised pustular psoriasis (see previous) Nails: matrix - pitting, leuconychia, red spots in lunula, crumbling. Bed - onycholysis, oil drop/salmon patch, splinter haemorrhage, subungual hyperkeratosis. Graded 1-8 by NAPSI Other: chronic paronychia, acrodermatitis continua/of Hallopeau (sterile pustules beneath/around nail plate, which is lifed off by crust and pus. Permanent nail loss, resorptive osteolysis. Rx ultrapotent topical steroids, PO retinoids), Parakeratosis pustulosa (single digit with erythematous scaly skin. Pustules/vesicle do not persist, leading to eczematous changes, with nail plate lifted and thickened. Chronic but self-limiting, Rx topical steroids) Severity: impact by DLQI, disease specific by PASI (0-72), <7 mild, >=12 severe Rx Beware, you won't clear disease, only control. Demonstrate how to apply treatments. Emollients may reduce scale and itch, but not v effective UVB phototherapy: widespread psoriasis. 6-8w, 3/w Topicals vitD3 analogues: calcitriol/calcipotriol/tacalcitol, turns plaques into smooth erythematous patches, not suitable for widespread disease as too much = hypercalcaemia Tar lotion: as effective as vitD3, can be applied all over skin, but may smell and irritate (emollient over top reduces both) Highly potent steroids: v. effective, work quickly but chronic use causes atrophy and adrenal suppression, with rebound exacerbation on cessation Retinoids: tazarotene. Reduces thickness, scaling and erythema Facial/flexural: calcineurin inhibitor topicals (tacrolimus, pimecrolimus) , moderately potent steroid topicals (beware thin flexural skin prone to atrophy) Scalp: potent steroid lotion/foam applied at night (do not let drip onto neck or forehead due to atrophy), or vitD3 analogue scalp preparation. If thick plaques, remove with keratolytic salycilic acid preparations (Cocois, Sebco) applied to scalp once weekly. Tar based shampoos may be helpful Systemic: methotrexate (1st line systemic), retinoids (acitretin), cyclosporin. More rarely fumaric acid esters, MMF. Final line anti-TNF agents and ustekinumab PUVA: photochemotherapy (PO psoralen + UVA). UVA is carcinogenic, so limited lifetime dose Older Rx: crude coal tar preparations, dithranol (anthralin, irritates skin)

Lymphoedema

Chronic swelling (mostly leg) associated with and predispose to recurrent cellulitis/erysipelas (and occasionally ulcers) Primary: Milroy disease (VEGFR3), lymphoedema-distichiasis syndrome (FOXC2), Turners, cystic hygroma. Can present late Secondary Mechanical: RT, LN dissection Infections: filarial parasites Rarely pretibial myxoedema Painless, usually u/l persistent swelling of foot and leg, originally pitting -> non-pitting 'woody' position-independent in chronic (fibrosis). Warm leg/foot with thickened, fissured, hyperkeratotic skin and papillomatous wart-like growths (Elephant skin). Bleb-like vesicles compressible w/ finger (lymphoceles). Stemmer's sign (pinch base of 2nd toe) In obese euthyroid pts - nodular dermal mucinosis (obesity associated lymphoedematous mucinosis) Differentiate from lipoedema (painful fat syndrome): F pubertal onset, 40% familial. Nodules of "wet fat" deposited in SC tissue. B/l painful tender, positionally-dependent non-pitting swelling. Feet normal, overlying skin thin, Stemmer sign absent. Rx none, even weight loss does not change. Exercise, support stockings Lymphoedema Rx Wash skin daily (esp folds, between toes) - clean and dry Emollient for fissuring. If cut/abrasion, clean vigorously and regularly If >2 cellulitis/y, phenoxymethylpenicillin (clindamycin if allergic) for 2y to prevent further lymphatic damage Refer to lymphoedema clinic: manual lymphatic drainage, exercise advice, compression bandaging

Scabies

Common contagious debilitating Sarcoptes scabiei var hominis mite infestation. Allergy to saliva, eggs and excrement cause intense itching. Mites mate on skin surface, M dies, F burrows into epidermis and lays eggs for 4-6w, hatching within 3-4d, adult by 10-15d. Transmitted by skin-to-skin contact (>15min - holding hands, sharing bed, sex). Cannot jump or fly, but burrow 2.5cm/min Normal scabies: papules, erythema and excoriation 2ndary to pruritus. Finger web crusting, nodules on penis. Infants may have blisters/pustules on palms/soles Norwegian (crusted) scabes: normally 10-15 adult mites - in this type many thousands. Elderly/immunocompromised. Less marked itching with thick crusts on hands, elbows, knees, ankles containing hundreds of mites (V. CONTAGIOUS). Face, scalp, nail beds involved with diffuse red and scaly skin Burrows: comma-shaped lines few mm long, diagnostic. Found in finger webs, flexural wrists elbows and axillary folds, breasts, male genitalia, medial/lateral borders of feet. May also have Y-shaped burrows and palmoplantar creases. Mites can be visualised as dark spot/triangle at end of burrow with naked eye or dermatoscope Treat all household and close contacts/sexual partners, even if asymptomatic. If Norwegian treat all in hospital/caring home if been there >24h. Hot wash all clothes and linen and 10min dry on high setting. All unwashables place in plastic bag for 72h Permethrin cream to whole body except head (including under nails). If <2y, old, immunosuppressed, also scalp face ears. Can also give 2 doses of ivermectin 1-2w apart Itching will persist 2-3w, give calamine lotion or moderate topical steroid, sedating antiH for itch Norwegian scabies: PO ivermetacin days 1,2,8,9,15 AND permethrin cream applied to whole body OD for 7d, then twice weekly until mites eradicated

Pre-orbital cellulitis

Common in children. Due to staphs and streps (rarely Hib). RF Infections: local (dacryocystitis, hordeolum) or systemic (URTI) Trauma: laceration Fever, malaise, u/l erythematous painful swollen lid, often following local trauma. Inflamed lids, but no proptosis, normal eye movements, white conjunctiva, normal CNII function PO Abx, daily review until resolution. Admit young/unwell children

Pityriasis rosea

Common self-limited rash of adolescents/young adults, ?HHV infection. Clears in ~8w Mild prodrome (headache, fever, malaise), then 'herald patch' (usually trunk) preceding rash by a few hours/days. Then rash on trunk and proximal extremities, sparing face palm and soles. Oval/round thin pink papules/plaques with overlying/collarette of fine scale, in 'christmas tree' distribution on back aligned along Langer lines. May have hyperpigmentation if dark skinned Atypical: inverse pityriasis rosea (flexural), vesicular, purpuric, pustular variants Asymptomatic, itching minimal Check DHx to exclude pityriasis rosea-like drug reaction, otherwise reassure and wait

Keratosis pilaris

Common, horny plugging of follicles causes asymptomatic rough papular rash +/- erythema. Upper outer arms, front of thighs, cheeks Reassurance, emollients, urea-based creams

ALL

Commonest cancer in childhood, associated with downs and irradiation in pregnancy. Due to differentiation block in lymphoid lineage Morphological classification: L1 (small blasts, scanty cytoplasm), L2 (large blasts, more cytoplasm), L3 (bsophilic vacuolated cytoplasm) based on microscopy Immunological classification: precursor B-cell ALL (Downs, 75%), T-cell ALL (20%), B-cell ALL (5%) Cytogenic classification: specific mutations provide prognostic information 2-5yo, M>F, fever. <2yo, >10yo, WBC>20, non-white, male all poor prognosis BM failure: anaemia, bleeding, infection Infiltration: hepatosplenomegaly, lymphadenopathy (inc. mediastinal), orchidomegaly, CNS involvement (CN palsies, meningism), bone pain Infections: chest, mouth, perianal and skin. Bacterial sepsis, VZV, CMV, measles, candidiasis, PCP WCC v. high, film shows blast cells CXR/CT show mediastinal and abdo lymphadenopathy LP for CNS involvement (cytospin) Blood/platelet transfusion, IV fluids, allopurinol (tumour lysis prophylaxis), insert subcut port/Hickman line Chemo: remission induction(4w steroids, vincristine, L-asparginase, danorubicin and single dose intrathecal methotrexate), then high dose intermittent consolidation therapy (IT methotrexate, PO 6MP, cyclophosphamide, cytarabine), finally maintenance therapy over 2y (6MP, PO and IT methotrexate, vincristine, dex). If relapse intensive re-induction and consolidation. CNS prophylaxis: intrathecal or high dose IV methotrexate, CNS irradiation Matched allogeneic SCT once in remission (defined as no evidence of leukaemia in blood, recovering FBC and <5% blasts in BM) Child survival 70-90%, adults 40%

Duchenne's muscular dystrophy

Commonest muscular dystrophy, due to XLR dystrophin mutation (non-functional) Presents at 4yo with clumsy walking, difficulty standing (Gower's sign), respiratory failure, calf pseudohypertrophy, intellectual disability in 30% CK 40x norm. Home ventilation + genetic counselling Becker's: milder form of Duchenne's, due to XLR dystrophin mutation (hypofunctional). Presents later (10yo), with better prognosis and no intellectual impairment

Osteomyelitis

Commonly Staph aureus (most common in kids), Pseudomonas (>2yo), E. coli and Strep. Less commonly Salmonella (sickle cell), Mycobacteria, fungi. Can be acute haematogenous, secondary to local infection or from direct innoculation (trauma) RF: DM, vascular disease, impaired immunity, sickle cell, surgical prosthesis, open fractures Adults: cancellous bone in vertebrae (IVDU) and feet (DM) Children: vascular bone (long bone metaphyses - distal femur, upper tibia). In infants, transphyseal vessels are patent so can spread to joint causing septic arthritis Infection causes cloacae secondary to cortical erosion. Exudation of puss under periosteum interrupts blood supply causing sequestra (necrotic fragments of bone, characteristic of chronic osteomyelitis). New bone formation by elevated periosteum forms involucrum. Sinus tracts may form Gradual onset (days) pain with unwillingness to move. tenderness, warmth, erythema, effusion in neighbouring joints, signs of systemic infection. All signs more prominent in children than adults, however infants characteristically appear well with no fever. For chronic osteomyelitis, a non-healing ulcer with palpable bone is enough for diagnosis High ESR/CRP, WCC. Blood cultures XR: normal for 10-14d, then haziness and loss of density, then subperiosteal reaction and later sequestra and involucrum. If chronic, thick irregular bone MRI: sensitive and specific Bone biopsy/culture: gold-standard, but rarely required Culturing exudate/surrounding tissues may be misleading Drain abscess, remove and culture sequestra 6w Abx: Flucloxicillin+sodium fusidate, clindamycin if allergic. Ciprofloxacin monotherapy can be suitable for pseudomonas osteomyelitis Chronic: radical sequestra excision, skeletal stabilisation, dead space management (plastics), Abx>=12w

Kippel-Trenaunay syndrome

Complex venous-lymphatic malformation of limb associated w/ hypertrophy and varicose vens. Risk of VTE, Rx compression stockings

Anorexia Nervosa

Condition of young women with marked distortion of body image, pathological desire for thinness, and self-induced weight loss. Some genetic RF but not associated with childhood abuse CRITERIA Low body weight: >15% below expected, BMI <17.5 (<2nd centile in kids) Self-induced weight loss: avoidance of fattening foods, vomiting/purging, excessive exercise, appetite suppressant use Body image distortion: dread of fatness - over valued idea with low weight threshold Endocrine (HPA axis): amenorrhoea (can persist after weight gain), reduced libido/impotence, raised GH/cortisol, altered TFTs, abnormal insulin secretion Delayed/arrested puberty: if onset prepubertal Signs: russel sign, hypercarotinaemia (yellow skin/sclera), breast atrophy, parotid/submandibular swelling, swollen tender abdo (reduced motility -> intestinal dilation), brittle hair/nails COMPLICATIONS Oral: dental caries CVS: hypotension, ECG changed (sinus brady, STE, T flattening, RAD, low voltage, prolonged QT - risk of life threatening arrhythmias), cardiomyopathy (reduced heart size/LV mass, MVP - recovers on feeding). Most common cause of death GI: prolonged GI transit, constipation (prokinetic agents may accelerate gastric emptying, resolve gastric bloating helping with renormalisation of eating habits) Endocrine/Met: hypokalaemia/natraemia/glycaemia/thermia, arrested growth, osteoporosis Renal: renal calculi Reproductive: infertility, low birth-weight infant Derm: dry scaly skin, brittle hair, alopecia, lanugo (fine downy) body hair Neuro: peripheral neuropathy, loss of brain volume, ventricular enlargement, sulcal widening, cerebral pseudoatrophy (will correct with weight gain) Haem: anaemia, leukopenia, thrombocytopenia FBC, U+E, LFT, ESR, glucose, TFT (sick euthyroid syndrome), endocrine panel, cholesterol (may be dramatically increased) VBG/ABG: metabolic alkalosis (excess vomiting) or metabolic acidosis (laxative abuse) Pharma: fluoxetine Psych: family therapy, CBT/behavioural therapy Education: nutritional education challenging overvalued ideas, bibliotherapy (self-help manuals) Admission: if extreme weight loss, severe electrolyte imbalance, CVS complications, psychosis, risk of suicide, failure of outpt Rx Re-feeding: in first 2w cardiac decompensation can occur due to increased metabolic demand (excessive bloating, oedema, rarely CCF). To prevent, correct U+Es before refeeding, then recheck every 3d for 1w after refeeding, then weekly until recovery. Increase caloric intake by 200-300kCal every 3-5d until sustained 1-2lb/w weight gain achieved Highest mortality of all psych disorders (10-15% 2/3 from med complications). with Rx 1/3 full recovery, partial recovery, chronic problems If teenager, most make full recovery

Oesophageal stricture

Congenital (5%, middle-distal 1/3s, asymptomatic in neonates. Due to membranous diaphragm, segmental submucosal fibrosis, or presence of ectopic tracheobronchial rests) or acquired (95%, due to reflux, caustic ingestion, following OA repair) Regurgitation of undigested food, bolus obstruction, FTT Ix: barium swallow, oesophagoscopy Absolute indication for anti-reflux surgery. If congenital, may respond to dilation, but resction or oesophageal replacement often necessary

Lung abnormalities

Congenital cystic adenomatoid malformation (CAM): dysplasia of resp epithelium. Diagnosed prenatally by USS, high risk associated w/ hydrops. Large - resp distress at birth. Small - early childhood w/ pulmonary sepsis. If symptomatic, resect Sequestration: segments of lung with anomalous aortic blood supply instead of pulmonary. Majority detected prenatal USS, Rx resection. Large - resp distress at birth + HF due to high flo through feeding vessel. Small - pulmonary sepsis Congenital lobar emphysema (CLE): massive air trapping in emphysematous lobe, compressing surrounding lung, mediastinal shift. Progressive resp distress within weeks/months of life requiring lobectomy. PPV will induce rapid worsening! If identified on CXR but no symptoms, close f/u

Bipartite patella

Congenital patellar fragmentation in 1% of population Usually incidental XR finding, but can cause pain if fragments mobile (surgical excision will cure pain)

Aortic coarctation

Congenital, more common in boys. Associated with Turners, bicuspid aortic valve Onset at 48h old with ductus arteriosus closure. If severe, HF and collapse as PDA required to maintain circulation Radiofemoral delay, weak femoral pulse, HTN, scapular bruit, systolic murmur best heard at left scapula, cold feet CXR: rib notching MRAorta diagnostic Neonates: resuscitation + early surgery Paeds: Surgical resection or balloon dilation + stenting. If untreated, HTN leads to complications (CAD, CCF, hypertensive encephalopathy, ICH) at 20-40yo

Ophthalmia neonatorum

Conjunctivitis in first month of life, potentially sight threatening 'sticky eyes': most common, start at 3rd-4th day. simple cleaning measures usually sufficient. May be infected by staph aureu, P. aeruginosa or strep, requiring topical neomycin Gonococcal: 1-3d of birth (hyperacute), severe purulent discharge, lid oedema, chemosis +/- pseudomembrane, keratitis. Conjunctival swab/scrape MC&S, Rx Cefotaxime IM single dose, frequent saline irrigation of discharge, mum to GUM. Chlamydial: 4-28d (subacute) w/ mucopurulent discharge, papillae. Can be haemorrhagic +/- preseptal cellulitis. Ix Prewet swabs/conjunctival scrape for Giemsa stain. Rx erythromycin 2w PO, mum to GUM HSV: 1-14d (acute) vesicular lid lesions, mucoid discharge +/- dendritic keratitis, anterior uveitis, cataract, retinitis, optic neuritis. Can have systemic problems. Rx acyclovir drops +/- IV acyclovir

Dengue

DENV1-4 transmitted by day-biting Aedes mosquito. Incubation 3-14d, fever, n+v, headache, retroorbital pain, myalgia, arthralgia, +ve tourniquet test. Red flags may occur 3-7d after, requiring admission: abdo pain, persistent vomiting, fluid accumulation, mucosal bleeding, hepatomegaly, polycythaemia, thrombocytopenia. SEVERE DISEASE: shock (inc. postural BP drop>20), respiratory distress, severe bleeding, organ involvement (transaminases >1000, low GCS, AKI, etc) Diagnosed by Rare and Imported Pathogens Laboratory (RIPL): PCR/ELISA Ag during viraemia (first 5d). FBC: polycythaemia, thrombocytopenia. LFT: transaminitis Treatment is supportive. IV fluids in severe disease, beware leaky capillaries. Monitor haematocrit (decrease implies bleeding, may require transfusion). NSAIDS CI as increase risk of haemorrhagic dengue

Myotonic dystrophy

DM1 due to AD CTG expansion DMPK mutation on c19. DM2 due to AD ZNF9 mutation on c3 Neonatal: hypotonia, feeding difficulty, tent-shaped mouth, resp impairment. Rx supportive, symptoms become less disruptive as child grows DM1 commoner and more severe. 20-40yo with distal weakness (foot/wrist drop), weak SCM, myotonia (tonic muscle spasm) and long haggard appearance due to facial muscle wasting. Cataracts, male frontal baldness, DM, testis/ovary atrophy, cardiomyopathy, cognitive deficit. Death in late middle age doue to cardio or resp complications Mexiletine for disabling myotonia. Genetic counselling ALL neuromuscular disorders predispose to malignant hyperthermia

CKD

Definition: abnormal kidney structure or function present for >3mo with implications for health Most common causes in order: diabetes, glomerulonephritis, HTN, RAS, PKD chronic pyelonephritis. Any renal disease or nephrotoxic drug can cause eGFR = 40 x height(cm)/creatinine (umol/L) Staging (G=eGFR, A=ACR. For 24h albumin excretion equivalents, x10) G1>90, G2 60-89, G3a 45-59, G3b 30-44, G4 15-29, G5<15. A1<3, A2 3-30, A3>30 For G1-2, only CKD if other evidence of kidney damage (protein/haematuria, pathology on biopsy/imaging, tubular disorder, Tx) Monitor GFR and albuminuria yearly, 6monthly if high risk and 3-4monthly if v. high risk. Small fluctuations common but >25% change with change in stage is significant. Rapid progression if >5/y decrease in eGFR Refer to renal if: G4-5 CKD, ACR>70, ACR>30 with haematuria, >25% decline with decline in stage, sustained >15% decline over 1y, HTN refractory to >=4 drugs, rare/genetic cause of CKD Treat progression Exercise, diet (K+PO4 restriction), weight control, smoking cessation. <2g Na/d (<5g salt/d) BP target <140/90. If DM or ACR>70, <130/80 Offer ACEi/ARB to: DM+ACR>3, HTN+ACR>30, CKD(any)+ACR>70. Check K and U+E HbA1C target 53, unless hypoglycaemia risk Treat complications Check Hb if GFR<60. Look for iron, B12, folate deficiencies, esp if GFR>30. Give epo if Hb<110 and likely to benefit - beware of Ab formation causing pure red cell aplasia (rare, Hb usually <60) If GFR<30, bicarb<20 consider NaHCO3 supplementation Diuretics+fluid restriction for oedema. Loop+thiazide combination very powerful Measure PO4(high), Ca(low), PTH(high), ALP and vitD if GFR<30. If PO4>1.5, dietary restriction+phosphate binders. Give vitD supplements (cholecalciferol) and activated analogues (calcitriol) if refractory For restless legs exclude iron anaemia. Give sleep hygiene advice. Treat with gabapentin,pregabalin,dopamine (all off-license) low-dose aspirin+statins for CVS risk Put all on Tx list 6mo before anticipated start of RRT KIDS L wrist XR for osteodystrophy If falling height velocity or short stature with optimum medical treatment, give recombinant GH

Tinea

Dermatophyte infection of skin, nails or hair. Transmission through skin scales or shed hair Human only Trichophyton rubrum/interdigitale/tonsurans/schoenleinii (severe scalp favus), Epidermophyton floccosum Zoophilic (more inflammed rash, rarer, ask about animal contact) Microsporum canis (cats/dogs): hairs infected fluoresce bright green under Wood lamp Trichophyton mentagrophytes (rodents) Trichophyton verrucosum (cattle) Tinea ______ Corporis: body, ring-like pattern Cruris: groin, spares scrotum Pedis: athletes foot, macerated scale between 4-5th toes or diffuse dry scale of soles (moccasin-like) Manuum: hand, usually u/l dry scale no inflammation Unguium: >=1 thickened crumbling discoloured nail Captis: scalp, primarily children, causes hair loss and inflammatory kerions Facei: face, uncommon but can get beard kerions Asymmetrical erythematous scaly well demarcated patches, slightly pruritic, expand slowly with central clearing and hair loss. Scale mostly on outer edge of ring. If zoophilic may have raised pustular borders or form kerions. If treated with steroids, will become more papular and pustular (tinea incognito) Skin scraping, scalp brushing or nail clipping. For favus, scalp brushings from family members and close contacts Topical antifungal: terbinafine or clotrimazole If widespread or incorrectly treated with steroid: PO terbinafine or griseofulvin Tinea captis: oral antifungal + ketoconazole shampoo Microsporum canis: griseofulvin or itraconazole Tinea unguium: for superficial mould, amorolfine or tioconazole paints. For tinea, PO antifungal (terbinafine) 3mo or pulsed oral therapy (nail dystrophy may persist, and infection v. difficult to eradicate)

Physical urticaria

Dermographism: commonest, itchy wheal within 10min of rubbing skin, lasting 1h. Stroke with spatula to elicit Cold urticaria: itchy wheals within mins when skin exposed to cold. May get angiooedema and hypotension, can be lifethreatening. Classically cold winds and swimming trigger. Confirm with ice cube test (ice in bag against forearm for 20min, wheals develop rapidly on rewarming. May be associated w/ cryoglobulins, cold agglutinins, cryofibrinogens or familial cold urticaria (AD hereditary fever syndrome, NLRP3) Delayed pressure urticaria: sustained pressure causes itchy or painful wheals after 30min-6h delay, lasting 72h (classically after carrying heavy bag) Solar urticaria: itchy wheal within 10min of skin exposure to UV or visible radiation. Occurs in erythropoietic protoporphyria (EPP) Other: aquagenic urticaria (water), heat contact urticaria (heat), vibratory angio-oedema (vibration) trigger local itchy urticaria within 10min, resolve within 2h

Liver failure

Development of coagulopathy (INR>1.5)and encephalopathy Hyperacute (<=7d), acute (8-21d), subacute (4-26w), chronic (on background of cirrhosis) Jaundice, hepatic encephalopathy, fetor hepaticus. Signs of chronic liver disease suggest acute on chronic liver failure Hepatic encephalopathy ammonia builds up in brain, astrocytes clear by glutamate->glutamine, causing osmotic imbalance and cerebral oedema. Stage 1: Altered mood/behaviour, sleep disturbance, dyspraxia ('copy this 5-point star'), poor arithmetic Stage 2: Increasing drowsiness, confusion, slurred speech +/- liver flap, inappropriate behaviour/personality change Stage 3: Incoherent, restless, liver flap, stupor Stage 4: coma Hepatorenal syndrome Cirrhosis+ascites+renal failure. Abnormal haemodynamics cause splanchnic vasodilation, renal vasoconstriction. HRS1 rapidly progressive, mean survival <2w. HRS2 more chronic, mean survival 6mo. Treat with TIPS, combined liver-kidney transplant FBC (neutrophilia may be due to liver), U+E (urea unreliable, made in liver), LFT, INR, glucose, paracetamol levels, serologies, autoantibodies, ferritin, alpah1-antitrypsin, caeruloplasmin. Blood/urine culture, ascitic tap (spontaneous peritonitis CXR, abdo USS Admit to ITU 20degree head-up tilt, intubation+NG to protect airway and remove blood from stomach Urinary/central venous caths for fluid balance Monitor obs and weight daily Check FBC, U+E, LFT, INR daily 10% glucose 1L/12h IV to avoid hypoglycaemia, BM every 1-4h Give thiamine + folate. If malnourished seek dietary advice Treat seizures with phenytoin, renal failure with haemodialysis/filtration Consider PPI for prophylaxis agaist stress ulcers Liase with Tx centre, avoid drugs that constipate (increase encephalopathy risk), oral hypoglycaemics, saline-containing IVIs, hepatotoxic drugs. Warfarin will be enhanced Bleeding: VitK IV 3d, platelets/FFP/blood/endoscopy as needed Infection: ceftriaxone (not gent due to HRS) Hypoglycaemia: If <=2 or symptomatic, 50ml 50% glucose Encephalopathy: avoid sedatives, 20degree head-up tilt, correct electrolytes, lactulose (catabolised to SCFA by bacteria, causing low pH and increased NH4 excretion) and rifamixin (non-absorbable, kills NH4-producing bacteria KCH criteria for Tx Paracetamol: Arterial pH <7.3 24h after ingestion, OR [PT>100 AND creatinine>300 AND grade 3/4 encephalopathy] Non-paracetamol: PT>100 OR 3 of [drug induced liver failure, age <10 or >40, >1w from first jaundice to encephalopathy, PT>50, Bilirubin>300

Other ortho

Diastematomyelia: Spinal cord split by central cartilagenous or bony prominence Other abnormalities: scoliosis. clubfoot, cavus. Cutaneous lesions, neurology in 50% Resection of spur if neurology present Sacral agenesis: hypoplastic/absent sacrum, most common in IDM. Abnormal pelvic ring affecting lower limbs w/ neurology

AML

Differentiation block in myeloid lineage. Associated with chemotherapy, myelodysplasia, Downs Classification AML with recurrent genetic abnormalities AML multilineage dysplasia (2dary to myelodysplasia) AML, therapy related (2dary to chemo) AML, other (classified as M0-7 by microscopy) M1: AML w/o maturation M2: AML w/ maturation M3: APML (DIC) M4Eo: acute myelomonocytic leukaemia w/ eosinophilia M5: acute monocytic/monoblastic leukaemia M6: acute erythroleukaemia M7: acute megakaryocytic leukaemia (Down's) BM failure: anaemia, bleeding, infection APML: type of AML that secretes thromboplastin, causing DIC Infiltration: hepatosplenomegaly, gum hypertrophy, skin involvement, CNS involvement (rare) Lymphadenopathy less prominent than ALL Chloroma in M2, M4Eo and M5 WCC often raised, but can be norm or low. Blast cells often low in blood, so BM biopsy required. Biopsy differentiates from ALL due to presence of Auer rods. Cytological analysis guides prognosis and treatment M1+M2: t(8;21) M3 AML: t(15;17) in 100% M4Eo: inv(16) Blood/platelet transfusion, IV fluids, allopurinol (tumour lysis prophylaxis), insert subcut port/Hickman line Chemo: v. intense with daunorubicin and cytarabine APML: ATRA given in induction phase allogeneic SCT: for refractory or relapsing disease. Pre-treat with high dose cyclophosphamide and total body irradiation. Beware GVHD, not appropriate for older pts

Limping child

Discitis, osteomyelitis, septic arthritis any age 0-5yo Hip: DDH, transient synovitis 5-10yo Hip: transient synovitis, Perthes' disease Knee: Discoid meniscus Foot/ankle: Kohler's disease, Freiberg disease, tarsal coalition, verruca, ingrowing toenail 10-15yo Hip: SUFE Knee: Osgoos-Schlatter's disease, osteochondritis dessicans, patellofemoral pain syndrome, chondromalacia patella Foot/ankle: Sever's disease, tarsal coalition, verruca, ingrowing toenails

Acne vulgaris

Disfiguring disorder of pilosebaceous unit, almost ubiquitous in adolescence, starting at 12-14yo. Pathogenesis poorly understood, involves adrogens increasing sebum secretion and Propionibacterium acnes induced inflammation Secondary causes: PCOS, CAH, androgen secreting tumour, XYY, Apert syndrome (low IQ, acrocephalosyndacyly) Affects upper trunk and/or face. Multiple types of lesion - pustules, papules, comedones (open = blackhead, closed = whitehead), nodules, cysts, scars (deep 'icepick' or flat) Acne medicamentosa: acneiform rash but unusual distribution (trunk and upper outer arms), no comedones Antiepileptics, anabolic steroids, ciclosporin, steroids (esp inh in young children), isoniazid, EGFRinhibs, GH, halogens, Li, progestogens, vitB12 Rx: reassure skin not dirty. Use gentle soap-free cleanser daily, oil free make-up. All Rx take 3-4mo to have maximal effect, may get worse before getting better Mild: topical erythromycin or clindamycin, benzoyl peroxide, retinoid (tretinoin, isotretinoin, adapalene). Combination > monotherapy. Apply to whole skin, not just affected areas Moderate: PO oxytetracycline, lymecycline (no tetracyclines if <12yo) or erythromycin for 4mo, combined with topical non-Abx preparation. F - OCP with anti-androgens (co-cyprindiol), avoid OCP containing norethisterone (androgenic properties) Severe: specialist referal. PO retinoid (isotretinoin, causes mucosal dryness and rarely depression, v. teratogenic, maintain contraception 1mo after cessation). For cysts, intralesional triamcinolone Scars: improve w/ time, refer for cosmetic camoflage. Plastic surgery (chemical peels, lasers, dermabrasion) for deep scars, but not on NHS

Spondylolisthesis

Displacement of one lumbar vertebra on the one below (usually L5/S1) caused by spondylosis, spondylolysis, congenital articular processes malformation, OA of posterior facet joints Usually adolescents with pain +/- sciatica and hamstring tightness causing a waddling gait XR and MRI identify nerve compression (Scotty dog's collar) Temporary relief with bracing and PT, spinal fusion is curative (required if >50% slip)

Macroglossia

Downs, BW, MPS, congenital hypothyroidism. Difficulty feeding, may require SALT input later

Rubella

Droplet spread, incubation 2-3w, infectious 1w before and after rash Prodrome of fever, conjunctivits, rhinorrhoea. Then pink, generalised maculopapular rash (starting on face, then spreading over whole body, 5d) and lymphadenopathy (occipital, cervical, postauricular), arthralgia. Confirm w/ acute (IgM) and convalescent (IgG) stage paired samples Congenital: triad of SNHL, eye abnormalities (retinopathy, cataracts, micropthalmia, glaucoma, corneal crowding) and cardiac abnormalities (PDA, pulmonary artery stenosis). Also microcephaly, LD and later DM, thyroid problems, progressive panencephalitis. If pregnant woman in contact: if 2 vaccine doses, or 1 + 1 Ab level>=10IU/ml, or 2 Ab levels >=10IU/ml, reassure. If not, Ab levels - if IgG/no IgM reassure, if IgM detected reference lab testing required, If neither repeat in 1mo + post-partum MMR Congenital Rx: If <13w, 80% transmission, TOP offered w/o invasive diagnosis. 13-16w 50% infected (confirm w/ fetal blood sampling), 35% of infected teratogenic. >16w 25% transmission but rarely causes defects - Rx reassurance Treatment is supportive. Must be vaccinated BEFORE pregnancy, CI during pregnancy. Isolate 4d from rash onset

Mumps

Droplet transmission. Incubation 14-21d Prodrome of fever, myalgia, headache. Infection and tender swelling of salivary glands (parotid>submandibular), ear pain. Complications: meningoencephalitis (most common), epididymo-orchitis (if post-pubertal, warm, tender, swollen testes 4d-6w after parotitis, can cause subfertility), oophoritis, pancreatitis, deafness (1%). Diagnose with salivary serology/PCR (usually clinical sufficient). Blood - lymphocytosis, increased amylase Treatment is supportive, isolate from 5d of swollen gland onset

SJS/TEN

Drugs (85%): sulfonamides, NSAIDs, Abx (penicillin, cephalosporin), anti-epileptics, barbituates, allopurinol, tetracyclines Viral: AIDS, HSV, EBV, influenza Bacterial: M. pneumoniae, typhoid, GAS Fungal: tinea, histoplasmosis Protozoan Malignancy: Hodgkin lymphoma, leukaemia GVHD Onset 2-3w after drug commencement, often pt has underlying AIDS/other disease. SJS <10% BSA, SJS/TEN overlap 10-30% BSA, TEN >30% BSA SJS Vague URTI symptoms (fever, cough, headache, sore throat, rhinorrhoea, malaise) 1-3d before onset. Then symmetrical poorly defined painful erythematous macules evolving rapidly to papules and target lesion (dark pruritic centre with 2-3 concentric colour changing circles). Large bullae rupture leaving denuded skin. Rash peaks at 4d and involves >=2 mucosal surfaces Lips: crusted and haemorrhagic Oral: painful stomatitis, dry mouth, scarring, dental carries Nasal Conjunctiva: purulent conjunctivitis which can cause KCS, photophobia, corneal scarring and loss of vision Urethra, vagina: chronic causes urogenital dryness and scarring GIT: stenosis Resp tract: bronchiectasis Other complications: post-discharge fatigue, skin dyspigmentation, loss of nails/dystrophic growth, PTSD, loss of muscle mass TEN Higher fever, painful/burning skin. Tender dusky erythema -> widespread subepidermal thin-walled flaccid blisters which rupture easily, leaving denuded painful oozing dermis. Nikolsky sign (lateral pressure detaches epidermis) Skin biopsy, differentiate from SSSS with blister roof or Tzank preparation of blister base (as for SSSS) SCORTEN: severity score for SJS/TEN Rx Withdraw all drugs started in last 4w Supportuve: ICU/HDU/burn unit, regular paracetamol and opiates (not NSAIDs) and infection monitoring (reverse barrier nursing on air mattress, repeated cultures). PPI, heparin, NGT, Foley cath (keep good fluid output, but DO NOT overload w/ fluid, much less fluid loss than burns and alveolar membranes damages - more permeable), excessive emollients throughout body and eye lubricants. NO STEROIDS (increase risk of infection), IVIg controversial

Bronchiolitis

Due to RSV (rarely parainfluenza, influenza, adeno/rhino/metapneumovirus, Chlamydia, M. pneumoniae), affecting everyone by 2yo. Maternal IgG protects newborns. Invades nasopharyngeal epithelium, spreading to lower airways, causing increased mucus production, desquamation and obstruction leading to hyperinflation/atelectasis Winter months. Coryza, then dry cough, then worsening dyspnoea. Also wheeze, feeding difficulty, episodes of apnoea. Rarely encephalopathy w/ seizures (hyponatraemia) Prolonged expiration, apnoea pauses, wheeze and crackles, resp distress NP swab for RSV 999 referral if: apnoea, child looks seriously unwell, severe resp distress (grunting, chest recession, RR>70/min), central cyanosis, spO2<92% Consider referral to hospital if: RR>60min, feeding difficulties (<75% normal feeding), clinical dehydration humidified O2 via headbox to get sats>92% If tachypnoea, limit oral feeds, use NGT Wheeze: neb salbutamol, ipratropium, adrenaline (best evidence) Ventilation: for severe resp distress Ribavarin: uncertain benifit, consider in immunosuppressed, underlying cardioresp disease Prophylaxis: palivizumab, preterm and O2 dependent infants get IM injection monthly for 5mo starting in October Recurrent cough, wheeze, tachypnoea may occur after RSV infection, treat with PO monteleukast granules

Gynaecomastia

Due to increased eostrogen:androgen ratio Hypogonadism, liver cirrhosis, hyperthyroidism, oestrogen-secreting tumours (testicular, adrenal), HCG-secreting tumours (testicular, bronchial), drugs (oestrogens, spironolactone, digoxin, testosterone, marijuana) Pubertal gynaecomastia: Cause unclear, typically involutes after 1-2y, resolved by end of puberty (16-17yo). Rx reassurance, if persists, surgical resection Pseudogynaecomastia: fat deposition

HUS

Due to shigatoxin producing E. coli (STEC) O157:H7. 5% atypical, due to complement dysregulation Presents with triad of microangiopathic haemolytic anaemia (Hb<100, high LDH, low haptoglobin, schistocytes), thrombocytopenia and AKI due to thrombosis of glomerular capillaries. Also haematuria and proteinuria. Look for complement abnormalities (atypical) Gut: prodromal bloody diarrhoea, rectal prolapse, haemorrhagic colitis, bowel wall necrosis, perforation Pancreas (<10%): DM, pancreatitis, liver jaundice, neuro irritability -> frank encephalopathy Myocarditis (rare) FBC, U+E, stool MC&S, complement STEC-HUS: supportive (NO ABx) aHUS: plasma infusion/exchange, eculizumab (anti-C5) Mortality <5%

GIT abnormalities

Duodenal atresia: 1/3 have Downs, present at birth with bile-stained vomiting. AXR - double bubble sign of gas in stomach and proximal duodenum. Rx surgical side-to-side duodenodeuodenostomy, excellent prognosis Small bowel atresia: thought to be vascula. Can be in continuity (like closed stricture) or V-shaped mesenteric defect, depending on how deep in mesentery vascular accident happens. Bile stained vomiting after birth and abdo distension. AXR - multiple fluid levels. Rx laparotomy for end-to-end anastomosis Meconium ileus: associated w/ CF - lack of pancreatic enzymes causes thick viscous meconium, causing obstruction in terminal ileum (delayed meconium passage, abdo distention). AXR - no fluid levels as meconium viscid. Occasionally distended bowel perforates or undergoes in utero volvulus (complicated MCI). Present at birth with obstruction. Rx: if no perforation, Gastrograffin enema (detergent loosens meconium, hypertonic solution pushes through), NG NAC. If complicated or previous fails, laparotomy. Manage CF

Mononucleosis

EBV targets B lymphocytes and epithelial cells (CD21). Can be CMV (10%) asymptomatic in childhood, 59% primary infection in adults lead to mononucleosis: incubation 4-6w, prodrome of flu-like illness, then - fever, sore throat (exudative pharyngitis), anorexia, tender generalised lymphadenopathy (esp post. triangle), palatal petichiae, splenohepatomegaly, jaundice, prominent malaise. Widespread erythematous macular rash, esp if inadvertently given ampicillin. May present as acute tonsilitis with white slough on tonsils. Symptoms resolve in 2w Blood film: lymphocytosis w/ atypical lymphocytes Heterophile Ab test/monospot/Paul-Bunnel test, Serology, rtPCR. treatment is supportive. REFRAIN FROM CONTACT sports for 6w due to risk of spleen rupture Complications: aseptic meningitis, encephalitis, GBS, post-viral tiredness, lymphoma, orchitis, myocarditis, pneumonia

Hypoglycaemia

EXogenous drugs: insulin, oral hypoglycaemics, alcohol (binge without food), aspirin overdose, ACEi, Bblocker, pentamidine, quinine sulfate, aminoglutethamide Pituitary insufficiency Liver failure Addison's Islet cell tumour (insulinoma), Immune hypoglycaemia (anti-insulin receptor Abs in Hodgkin's disease) Non-pancreatic neoplasms (fibrosarcoma, haemangiopericytoma) EXPLAIN+ non-insuloma pancreatogenous hypoglycaemia syndrome (insulin receptor mutation) Autonomic: sweating, anxiety, hunger, tremor, palpitations, dizziness. Neuroglycopenic: confusion, drowsiness, visual trouble, seizures, coma. Rarely focal neurology, mutism, personality change, restlessness, incoherence Defined by Whipple's triad: symptoms/signs of hypoglycaemia, BM<=3, symptom resolution with BM rise CBG, insulin, serum ketones If hyperinsulinism: insulin, C-peptide (low if exogenous insulin overdose), proinsulin Alcohol, pituitary insufficiency and Addison's cause low insulin+high ketones+hypoglycaemia

EDS

Ehler-Danlos syndrome is an autosomal dominant connective tissue disorder that mostly affects type III collagen. This results in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin. elastic, fragile skin joint hypermobility: recurrent joint dislocation easy bruising aortic regurgitation, mitral valve prolapse and aortic dissection subarachnoid haemorrhage angioid retinal streaks

Elimination disorders

Enuresis: psychoeducation (ERIC) Nocturnal: enuresis alarms, night lifting, reward systems/star charts, medication (desmopressin, imipramine, oxybutynin) Diurnal: body alarms, meds, psych (eg anxiety managemnt if due to fear of toilet) Encopresis: 95% have functional constipation with retention and overflow. Physical (loss of sensation) and psych (fear of toilet/pain on defecation) factors. Rx psychoeducation, family therapy (Sneaky Poo), star charts, meds (laxatives)

Raynauds

Episodic artery spasm causes digital ischaemia, precipitated by cold, funger constriction (shopping bags) or emotion. Improves w/ age Fingers ache, burn or tingle with colour changes - pallor (ischaemia) -> blue (cyanosis) -> red (hyperaemia) Rx underlying cause, local warmth, nifedipine, sympathectomy if severe/recurrent

Therapies

FAMILY THERAPY Structural: deals with disruption to hierarchies, subsystems, boundaries Strategic: Problems with interpersonal interactions between family members, family given tasts Milan systemic: emphasis on family beliefs (no objective truth), team behind screen, therapist takes non-expert stance Brief solution focused: focus on goals and solutions Narrative: changing narrative about life, facilitating new perspective. May get team to act out a previously described situation to give family new perspective Parent management training (PMT): Parents taught to use positive reinforcement contingently, frequently and immediately in response to good child behaviours, and mild punishment for bad. Hands-on practices/rehearsals are used. Main component in OBD Rx

Bezoar

FB composed of hair (trichobezoar) or vegetable matter (phytobezoar). Form in stomach and extend into small bowel Young girl w/ weight loss, vomiting, abdo pain, anaemia. Abdo mass may be palpable Barium meal or endoscopy confirm Large - open surgical removal Small - endoscopic removal

T1RTA

Failure of H secretion at DCT/cortical collecting duct. Primary genetic or secondary to autoimmunity (Sjogren's, SLE), toxins (lithium), nephrocalcinosis (medullary sponge kidney) H+/K+ and H+/Ca2+ cotransporter dysfunction causes hypocalcaemia (bone demineralisation), urinary alkalosis (renal calculi) with serum metabolic acidosis, and severe hypokalaemia treat with bicarbonate replacement and treat underlying aetiology

T2RTA

Failure of bicarbonate reabsorption in PCT, but DCT reabsorption intact, so serum bicarb usually >=12. Usually accompanied by Fanconi syndrome Caused by Fanconi syndrome (whole PCT dysfunction) or drugs (tenofovir)/heavy metals (lead) (solitary T2RTA) Diagnose by IV bicarbonate trial. If +ve, sudden increase in bicarbonate in urine, and increase in urine pH Treat with bicarb and potassium replacement

Tall stature

Familial Early puberty Obesity Endocrine: GH excess/adenoma, androgen excess/CAH, hyperthyroidism Chromosomal: XXY, XYY, XYYY Other: Marfans, homocystinuria, Soto, Beckwith-Weidemann Rx reassurance. Low dose sex steroid to induce epiphyseal fusion occasionally considered, but variable results and complications (VTE, Cancer)

Tuberculous meningitis

Feared complication in <5yo within 12mo of primary infection. Due to occult haematogenous dissemination to cerebral cortex from primary, which increases in size until reaching subarachnoid space/meninges. Thick gelatinous exudate created around brainstem, affecting CN III, IV and VI w/ hydrocephalus Insidious onset of apathy or disinterest, then intermittent headaches and anorexia, fever, vomiting. Focal neuro signs, seizures, severely depressed LoC CXR: 40-90% +ve LP: 50% culture +ve, Mantoux of IGRA commonly +ve Anti-TB regime + steroids for 12mo

Febrile neutropenia

Fever >38deg and neutrophils <1.0. Usually gram -ve (including Pseudomonas) Septic screen, culture everything Broad spectrum Abx WITHOUT DELAY - gram -ve bacilli can be fatal within hours. Tazosin + gent (+ teicoplanin if staph epidermidis infection possible). Review once culture results available

Ear FB

Foreign body symptoms Ear: pain, deafness, u/l otorrhoea + bleeding, can be asymptomatic Nose: u/l foul smelling rhinorrhoea, obstruction, vestibulitis. Epistaxis Throat: Acute onset drooling, dysphagia (constant pricking sensation with each swallow. Local neck tenderness, especially on rocking larynx side to side, with swelling. Stridor indicates impending airway obstruction. May have retrosternal or back pain Foreign body removal Ear: children usually require GA. Drown insects with olive oil, use syringe if no other trauma. Using operating microscope or headlamp Ear/nose: grab soft things with tilley's/crocodile forceps (beware, can push further in), hard things with wax hook/Jobson-Horne probe Throat: LA spray. AP and lateral neck XR. Tilley's (mouth) or McGill's (base of tongue, pharynx) forceps. Endoscopy under GA if can't remove, or sharp object (often required). If soft bolus, try fizzy drink (cola) and IV SMC relaxant (hyoscine) Lateral neck XR: air bubble in oesophagus, posterior pharyngeal wall swelling/loss of cervical lordosis, prevertebral air/surgical emphysema

A thalassaemia

Four genes AA/AA on c16 --/--: in utero death by Bart's hydrops, as only HbBarts (G4) present. Predominantly SE Asia (high aa/-- freq) --/-A: HbH disease - mild haemolytic anaemia with hepatosplenomegaly, leg ulcers and jaundice and B4 tetramer (HbH) Hypochromic microcytosis with target cells and reticulocytes. Inclusion bodies on film due to excess B chains. PO folate and occasionally infusions, splenectomy may be beneficial -A/-A or --/AA: asymptomatic carrier, with incidental hypochromic microcytosis. RBC>5.0, thalassaemia a trait more likely -A/AA: asymptomatic carrier with normal MCV

The child with fever

GREEN Colour: normal throughout Activity: responds normally, smiles, stays awake and awakens quickly if roused, strong normal cry Breathing: normal Hydration: normal Fever: none at time of examination AMBER Colour: pallor Activity: not responding normally, decreased activity, prolonged stimulation to awaken Breathing: nasal flaring, tachypnoea, desaturation in air, chest crackles Hydration: dry mucous membranes, poor feeding, reduced urine output, CRT >3s Other: fever >=5d, swelling of limb or joint, non-weightbearing/not using extremity, new lump >2cm RED Colour: pale, mottled, ashen, blue Activity: unresponsive, appears ill, barely rousable, weak high-pitched/continuous cry Breathing: grunting, severe distress Hydration: reduced skin turgor Other: non-blanching rash, fever at time of examination, bulging fontanelle, neck stiffness, seizures/focal neurology, bile-stained vomiting Green: manage at home. Advise - offer child regular drinks/feeds, look for signs of dehydration, look for non-blanching rash, do not sponge with water, look out for convulsions. Keep child out of school whilst fever present. If >5d, febrile seizure or concerns, come in Amber/red: red=lifethreatening! Both require admission and IV abx (ceftriaxone). If <3mo amoxicillin for listeria

Developmental assessment

GROSS MOTOR Newborn: head lag on pulling to sit, head extension in ventral suspension 6w: lifts head 45deg on lying prone and moves it from side to side 3mo: holds head upright when held sitting. Moro reflex lost 4mo: rooting reflex lost 6mo: palmar, stepping, asymmetric neck tonic reflex (ANTR) lost. Sits unsupported w/ rounded back, rolls prone to supine (vice versa slightly later) 7.5mo: straight back sitting 9mo: stands holding on 12mo: Babinski lost, 50% walking independently (9-18mo) IF NOT sitting by 12mo of walking by 18mo, refer for evaluation 16mo: run 18mo: jump 2y: runs tiptoe, walks up stairs w/ 2 feet on each step, throws ball at shoulder level 2.5y: kicks ball 3yo: hops on one foot for 3 steps, walks upstairs one foot/step, downstairs 2 feet/step, pedal tricycle 4yo: can balance on 1 leg for a few seconds, go up+down stairs 1 leg at a time, pedal a bicycle w/ stabilisers 5yo: can skip on both feet FINE MOTOR Newborn: fix and follow near face or light moving across field of view 6w: infant more alert, turns head through 90deg to follow object 3-4mo: hand regard (spends a lot of time watching hands) 6mo: palmar grasp (5mo), holds objects w/ both hands and bangs together, transfers objects between hands 9mo: inferior pincer grip, object permanence 10mo: neat pincer grip 12mo: index finger to point at objects, casting objects, stacks 2 bricks 18mo: scribbles, 4 bricks 2y: builds 8 brick tower, draws vertical line, puzzles (random <2yo, matching >2yo), turns several pages at once in book 2.5y: horizontal line 3y: draws circle, copies/makes bridge or train, single cuts, griffiths beads, turns one page at a time 3.5y: cuts pieces 4y: draws cross, copies/makes steps (3 levels), 12 blocks, cuts paper in half, small beads 4.5y: draws a square 5y: draws triangle or person, steps (4 levels) IF STILL casting objects at 18mo refer Hand preference <12mo old is abnormal and an indicator of CP SPEECH AND LANGUAGE Newborn: quieten to voices, startle to loud noises 6w: respond to mother's voice 12w: vocalise alone/when spoken to, begin to coo and laugh 6mo: consonant monosyllable babble (ba, da, etc), turns head to loud sounds 7mo: understands bye bye and no 8mo: 2 syllable babble (mama, dada) 9mo: responds to name, imitates adult sounds 12mo: understands nouns (where's mummy?) 13mo: 2 syllable words become more appropriate, 3 word vocab 15mo: points to own body parts 18mo: understands nouns (show me the ____), 6 word vocabulary, demonstrate 6 parts of body 2y: understands verbs (what do you draw with), combine 2 words together (get drink) 2.5y: understands prepositions (put cat on the bowl), 3-4 words joined together 3y: understands negatives (which of these is not an animal) and adjectives (which is red), knows age, name, several colours 3.5y: understands comparisons (which circle is bigger than this one) 4y: understands complex instructions (before you put x in y, give this to mummy), uses complex narrative/sequences to describe events SOCIAL 6w: starts smiling, becomes increasingly socially responsive (no smiling at 10w abnormal) 6mo: puts objects into mouth (stops at 1y), shakes rattle, reaches for bottle/breast 9mo: feed self using fingers, separation anxiety when separated from parents/wary of strangers (9mo-2yo). Plays peekaboo 12mo: begins to wave goodbye, hand clapping, plays alone if familiar person nearby, drink from beaker w/ lid, helps in dressing, Plays pat-a-cake 18mo: imitates every day activities, takes off shoes,hat but can't replace, plays alone contentedly 2.5y: eats w/ spoon, parallel play 3y: interactive play (sharing toys w/ friends), taking turns, following simple rules. Plays alone w/o parents, eats w/ fork and spoon, bowel control 4y: concern/sympathy for others if hurt, has best friend, imaginative play, eats w/ little help, dresses and undresses (not laces and buttons) 4.5y: bladder control, observes rules of play 5y: handles knife Bladder and bowel training variable, some trained by 2y but can be older. 10% of 5yo enuresis

RB

Genetic (AD heterozygous Rb mutation, 2-hit, 12mo age, b/l multiple tumours) or Somatic (24mo age, single). 90% spontaneous, of which 50% are genetic and 50 somatic Leucocoria, strabismus, reduced VA, acure red eye/orbital inflammation/excess watering O/e: white round retinal mass either growing into vitreous (endophytic, vitreous seeding) or back into retina/RPE (exophytic), may have visible calcification Complications: CNII (CNS) invasion, anterior segment involvement (glaucoma, iris invasion-heterochromia, rubeosis, hyphaema), EO spread (orbital inflammation), mets (bone, liver, lung) Ix: USS. MRI if unsure. NO CT (magnifies chance of 2nd hit), NO BIOPSY/ANY INTRAOCULAR PROCEDURE (causes spread or death) Rx: Laser treatment (photocoagulation or transpupillary thermotherapy), cryo, RT (Usually plaque brachytherapy, rarerly EBRT), chemo (carboplation, etoposide, vincristine - systemic, intra-arterial (directly into ophthalmic a) or vitreal), enucleation (most effective, for advanced uniocular or worst in b/l) Usually chemo to shrink, then laser to treat 95% survival. Identify mutation in pt, then check close relatives for the same mutation. If positive, put on screening program Flexner-Wintersteiner/Homer Wright rosettes, fleurettes

LQTS

Genetic (K channel mutations): Jervell and Lange-Nielsen syndrome (bilateral sensorineural hearing loss, AR KCNQ1/KCNE1 mutations), Romano-ward syndrome Acquired: drugs (ABCDE), hypoCa/K/Mg, bradycardia, CNS lesions, malnutrition Usually young Pts coming in with cardiac arrest/syncope during exercise, rest or being startled (depending on mutation) ECG, electrolytes non-pharma: avoid competitive sports, QT-delaying drugs and sympathomimetics (promote VT/TdP). Advise on post-vom/diarrhoea rehydration w/ electrolytes pharma: 1st B-blockers 2nd: ICD (required for Jervell and Lange) 3rd: left cervicothoracic sympathectomy 4th: PPM insertion

Umbilical abnormalities

Granuloma: harmless reaction to resolving umbilical stump, disappears by 2nd-3rd week. Cherry red lesions surrounding umbilicus, bleed on contact, may have seropurlent discharge. If persistent, silver nitrate stick (vaseline around umbilicus to prevent damage to surroundings, small dressing to prevent clothing damage. Multiple applications may be necessary). A patent vitello-intestinal duct will cause a persistent 'granuloma' discharging meconium, requiring surgical excision (along with segment of ileum duct attaches to) Urachal remnants: uncommon, present in infancy or early childhood. Persistent discharge of urine from umbilicus. Rx surgical closure (exclude BOO beforehand - PUV) Hernias: common, esp Afro-Caribbean. Most close spontaneously during first few years regardless of size, complications rare. If still present at 5yo, surgical repair Paraumbilical hernia: linea alba defects, edges more clearly defined, less likely to resolve spontaneously Omphalitis: Staph aureus infection of umbilicus. Can spead through umbilical vessels in neonates causing portal pyaemia and portal vein thrombosis. Rx topical + systemic Abx

B thalassaemia

Genetic diseases of reduced or absent production of a B chain on c11. B normal, B+ reduced, B0 absent. Not obvious until HbF (aa/yy, 1% after 1yo) falls off at 6mo, leaving only HBA (aa/bb) and HbA2 (aa/dd, 2.5%) FBC, MCV, film, iron, HbA2, HbF, Hb electrophoresis, MRI if myocardial siderosis B thalassaemia trait: heterozygote, so B/B+ or B/B0. Usually asymptomatic, presents as mild microcytic hypochromic anaemia (Hb>90) worsening in pregnancy. Microcytic anaemia+HbA2>3.5% and raised HbF. No Rx B thalassaemia minor: can be B+/B+, B+/C. B+/S gives sickle cell. Causes moderate anaemia not requiring transfusions. Can have splenomegaly B thalassaemia major: usually B0/B0, presents at 1yo with severe anaemia and failure to thrive. Extramedullar haematopoiesis causes prominent skull bossing ('hair on end' sign on skull XR), osteopenia and hepatosplenomegaly (also due to haemolysis). Lifelong transfusions required, leading to haemochromatosis. Film shows hypochromic, microcytic RBCs with target cells and reticulocytes, nucleated RBCs. Highly raised HbF, HbA2 variable, HbA absent Promote fitness, healthy diet, folate supplements 2-4 weekly transfusions to keep Hb>90 and suppress extramedullary haematopoiesis . Iron overload causes hypothyroidism, hypocalcaemia, hypogonadism. Mitigate with iron chelators (deferiprone, desferrioxamine 2/w SC - ADs cataracts, hearing loss, Yersinia infections) and high-dose ascorbic acid (increase urinary iron excretion). Desferiserox alternative in >6yo Splenectomy if >5yo and hypersplenic increasing transfusion requirements Hormone replacement for iron overload BM Tx can cure

Germ cell tumours

Germ cell Seminoma: homogenous, fried egg appearance Yolk Sac: <4yo, Schiller Duval bodies, AFP Choriocarcinoma: hCG, hyperthyroidism/gynaecomastia, haematogenous spread (lungs, brain) Teratoma: all 3 germ cell layers Embryonal: painful necrotic mass Non-Germ Cell Leydig: secrete androgens and oestrogen. Precocious puberty, gynaecomastia. Reinke crystals Sertoli: benign Lymphoma: >60yo Premalignant Intratubular germ cell neoplasia/germ cell neoplasia in situ (GCNIS): observation, orchidectomy or radiotherapy Scrotal lump, usually painless. RF: white, cryptorchidism, GCNIS, cryptorchidism, HIV5% develop intratumoural haemorrhage with pain O/e: hard, nontender, irregular, nontransilluminable mass in testes. May have hydrocele if tunica albuginea breached. Gynaecomastia (paraneoplastic, 5%) Mets: direct (epididymis, cord, scrotum), lymph (para-aortic LNs, inguinal LNs), haem (lung, liver bone. Must breach tunica albuginea) USS 100% sensitive, shows hypoechoic area. CT to stage Alpha-fetoprotein (AFP): expressed by trophoblastic tumours (teratomas and yolk sac tumours) hCG: expressed by syncytiotrophoblastic tumours - choriocarcionomas (100%). Sometimes by teratomas and seminomas LDH: elevated in 10% of seminomas, usually advanced Placental ALP (PLAP): elevated with advanced germ cell tumours, but non-specific (raised in smokers) Staged by TNMS, where S0-3 determined by serum marker levels T1=testes+epididymis, T2=vascular/lymph invasion/tunica vaginalis, T3=cord, T4=scrotal wall, N1=<=5 LNs <=2cm, N2=2-5cm/extranodal spread, N3=>5cm, M1a: nonregional LN or lung, M1b=other Radical inguinal orchidectomy: diagnostic and curative. testes, epididymis and cord are excised and sent to pathology. May be replaced with silicon prosthesis. Retroperitoneal lymphadenectomy may be indicated (commonly lymphadenopathy here will be only sign of extragonadal disease in NSGCT) For non-seminomatous germ cell tumours (NSGCT) post-op T1 can just undergo surveillance, but T2-4 requires adjuvant chemo METASTATIC DISEASE: chemo with bleomycin, etoposide, cisplatin RT occasionally used for nodal disease in seminomas

Papular acrodermatitis

Gianotti-Crosti syndrome. Acute non-itchy red papules over face, limbs and buttocks. Asymptomatic or malaise, hepatomegaly, lymphadenopathy Caused by enteroviruses, EBV, adenovirus, mycoplasma. Rx reassurance, spontaneously resolves within weeks

Neurodevelopmental delay

Global neurodevelopmental delay Genetic: Down syndrome, fragile X, DMD, metabolic (PKU) Congenital brain problems: hydrocephalus, microcephaly Prenatal insult: teratogens (alcohol, drugs), congenital infection (ToRCH), hypothyroidism Perinatal insult: extreme prem (IVH, periventricular leucomalacia), birth asphyxia, metabolic (hypoglycaemia, hyperbilirubinaemia) Postnatal: trauma, anoxia (suffocation/drowning) CNS infection (encephalitis/meningitis), metabolic (hypoglcaemia) Delayed walking: cerebral palsy, DMD/other myopathies, global delay Delayed speech: familial (parents also late language development), hearing (chronic OM/glue ear), environmental (poor social interaction/deprivation), neuropsychological (ASD, global delay) Delayed fine motor skills: developmental co-ordination disorder (DCD, dyspraxia). problems with proprioception, sensation, clumsy and poorly co-ordinated. Difficulties with writing, learning to dress, remembering daily routine (sometimes even reading) Delayed social skills: ASD

Sickle Cell Disease

Glu->Val causes HbA->HbS. SS=sickle disease, AS=sickle trait. HbS polymerises when deoxygenated, causing RBCs to deform into fragile sickle cells that can easily haemolyse or aggregate and block small vessels In infancy, high HbF protective. Risk of pneumococcal sepsis greatest in first 3y of life (functionally hyposplenic by 1yo) Chronic haemolysis well tolerated Vaso-occlusive (pain) crisis: common, due to microvascular occlusion. Triggered by cold, dehydration, infection or hypoxia. Affects BM (pain), hands/feet (dactylitis, <3yo), CNS (stroke - most common in 5-10yo, mortality 20% w/ 70% recurrence within 3y, seizures, cognitive defects), avascular necrosis (femoral head, humerus, or other), leg ulcers, low-flow priapism (40% of post-pubertal boys. Acute fulminant (painful >3h) or stuttering (shorter self-limiting episodes). Can cause ED) Aplastic crisis: parvovirus B19 infection, causing self-limiting (<2w) reduction in BM production, esp. RBCs Sequestration crisis: mainly in children (spleen atrophic in adults, splenic sequestration only <1yo). Pooling of blood in spleen and liver, with organomegaly, severe anaemia and shock. Urgent transfusion required Chest crisis: serious. pulmonary segmental infiltrates with pain, fever, tachypnoea, wheeze and cough. 50% have prodromal pain crisis ~2.5d prior. Usually due to fat emboli from BM or infection with Chlamydia, Mycoplasma or viruses Complications: splenic infarction leading to hyposplenism, poor growth, renal disease (hyposthenuria + high UO, dehydration, enuresis. Papillary necrosis causes haematuria, CKD occurs later), gallstones, retinal disease (small vessel occlusion -> NVD -> detachment), Iron overload from transfusions (can Rx with iron chelators but stop for pregnancy), pulmonary HTN, ENT (adenotonsillar hypertrophy -> nocturnal hypoxia, precipitating crises. Ask about snoring), fetal (miscarriage, IUGR, prem/stillbirth) Anaemia with reticulocytosis and bilirubinaemia Film: sickle cells and target cells with reticulocytes Sickle solubility test: doesn't distinguish between AS and SS Hb electrophoresis: gold standard Aim to diagnose at birth with cord blood to aid prompt pneumococcal prophylaxis For crisis Resuscitate (02, fluids) Prompt, generous IV morphine, check pt personalised analgaesia plan (consider PCA) Crossmatch, FBC w/ reticulocyte count Septic screen if fever or chest signs. Consider early Abx, esp in chest crisis (cephalosporin+macrolide) Check PCV, reticulocyte count, hepatosplenomegaly twice/d Transfusion if Hb or reticulocytes drop rapidly Exchange transfusion reserved for severe chest crisis, CNS event, multiorgan failure Inform haematologist of admission as soon as possible Stroke: prompt exchange transfusion until HbS <20% Chronic Hydroxycarbamide if frequent crises (increases HbF, beware myelosuppression) Daily PO folate Prophylaxis for hyposplenism (Abx+vaccine) BM Tx can be curative, but controversial Educate parents (prevents 90% of deaths from sequestration crises) Screen all children >2yo with annual transcranial doppler - high velocity flow necessitates exchange transfusion Recurrent stuttering priapism: exercise, warm baths, PO etilefrine

Hyperthyroidism

Graves' disease TMNG: elderly or iodine deficient, can cause compressive symptoms (only surgery indication) Toxic adenoma: solitary nodule Ectopic thyroid tissue: metastatic follicular carcinoma or struma ovarii Exogenous: Iodine excess (eg. contrast media), thyrotoxicosis factitia, amiodarone, lithium Others: subacute De Quervain's thyroiditis, post-partum, TB Diarrhoea, weight loss, high appetite (can cause paradoxical weight gain), over-active, sweats, heat intolerance, palpitations, tremor, irritability, labile emotions, oligomenorrhoea, infertility. Rarely psychosis, chorea, panic, itch, alopecia, urticaria Tachyarrhythmia (AF or SVT), warm moist skin, fine tremor, palmar erythema, thin hair. Complications: thyrotoxic cardiomyopathy (elderly at high risk), angina, AF, osteoporosis, ophthalmopathy, gynaecomastia low TSH, high T4/3, mild normocytic anaemia, high ESR,Ca,LFTs. Check autoantibodies Acute treatment is emergency, see algorithm

Roseola infantum

HHV6, 6mo-2yo, aka exanthem subitum, sixth disease Prodrome: high spiking fever (up to 41deg) lasting up to 4d, stopping by exanthematous phase (commonly seizures). Also V+D, pharyngeal injection w/o exudates, cervical lymphadenopathy Exanthema: rose-coloured maculopapular rash begins on trunk and spreads peripherally, lasting 2-5d. May have Nagayama spots (papular enanthum of uvula and soft palate) Neutropenia Complications: aseptic meningitis, hepatitis

HPV

HPV 6, 11 are most common for all but skin warts (1,2,3,7,10) HPV16,18 are high risk strains causing anogenital and head and neck squamous cell carcinomas Incubation period of ~3mo (can be much longer), grows for 3-6mo, then immune response kicks in. Undetectable by 2y. Only 10% have warts Transmitted by skin contact (usually sexual - microabrasions allow basal layer inocculation), digital and vertical transmission possible Usually no symptoms, but urethral/anal/cervical warts can bleed and urethral warts disrupt urinary flow. Anal warts more common in anoreceptives. Warts can be: Condylomata accuminata: soft 'cauliflower-like' warts found on mucosal/non-hairy skin Keratinised: resembling skin warts, on dry anogenital skin Smooth papules: shaft of penis Giant condyloma of Buschke and Lowenstein: HPV6/11, very large wart invading dermis and underlying tissue (eg corpus cavernosum), starting as keratotic papule progressing to large cauliflower lesion. 50% transform to verrucous carcinoma. Must be completely excised Pregnancy: warts rapidly enlarge, then resolve peurperineally. Can pass to neonate causing (HPV6/11) recurrent respiratory papillomatosis (laryngeal), but not indication for C/S KIDS: typically school age, plantar warts (verrucae) or genital/perianal (DOES NOT mean abuse, usually innocent causation) May grow rapidly in pregnancy, then regress after delivery Diagnosis clinical (speculum, proctoscopy, meatoscopy), biopsy under LA if not sure Podophyllotoxin 3d/w for 4-5w (antimitotic agent) Cryotherapy 1d/w, 1-10w, warn that good cryotherapy causes immediate erythema followed by blistering (cytolysis of epithelial cells) which will heal in 7-10d Trichloroacetic acid (TCA): caustic, protect surrounding skin with petroleum jelly Imiquimod: 3d/w, 16w. TLR7 agonist, stimulates immune response, can be used as cryotherapy adjunct Electrosurgery, excision, laser therapy are more extreme options. Cidofovir and 5FU creams are alternatives Pregnancy: delay treatment until puerperinium, podophyllotoxin teratogenic Cervarix: bivalent vaccine, now unused Gardasil: tetravalent (6,11,16,18), given to girls 12-13yo Both provide cross-protection against rarer strains

Haemophilia

Haemophilia A: XLR 'flip-tip' inversion in factor 8 gene, 30% novel Severe: <1% activity, spontaneous haemarthroses, significant bleeding with cuts, mucosal bleeds, lumpy pea-sized bruises as infants Moderate: 2-5% activity, bleeding rare, tends to involve muscles and soft tissues secondary to trauma Mild: 5-20%, rarely bleed, only after surgery or trauma Neonatal: ICH/after circumcision Haemarthrosis: knee > ankle > elbow > hips > wrist. Painful swollen tender warm joint with severe limitation of RoM, unable to weight bear. If recurrent can lead to degenerative joint disease IM bleeds: can lead to compartment syndrome, nerve compression, ischaemic contracture ICH: folows minor hrad trauma Diagnosis by high APTT and low FVIII USS for haematomas/haemarthroses Seek expert advice, avoid NSAIDs and IM injections Prophylaxis: severe phenotype requires alternate day IV FVIII concentrate Minor bleeds: elevation and pressure (PRICE), then IVI desmopressin to increase FVIII levels Major bleed (haemarthrosis): raise FVIII with recombinant FVIII to 50% normal (100% normal if life-threatening bleed eg airway obstruction, ICH) Mouth bleeding: tranexamic acid suspension CAN DEVELOP abs to FVIII, making Rx more difficult Genetic counselling Prognosis same as normal Haemophilia B/Christmas disease: XLR FIX deficiency presenting like haemophilia A (less common). Ix: same but FIX low, not FVIII. Rx same but with recombinant FIX, and desmopressin is useless. Acquired haemophilia: Sudden onset autoantibodies interfering with FVIII, causing big mucosal bleeds. Diagnosis by high APTT, anti-VIII Abs and FVIII activity <50%. Treat with steroids

Short stature

Height <= 2SDs below mean/<2nd centile Familial/genetic (most common, short parents) Constitutional delay IUGR: in 15-20% catch-up growth does not occur, which would usually put them at normal height/weight by 1-2yo GH deficiency Endocrine: hypothyroidism, Cushing's Dysmorphic syndromes: Turner's Noonan's, Downs Coeliac CKD Inflammatory disorders: RA, IBD Skeletal dysplasia: achondroplasia, hypochondroplasia Metabolic bone disease: X-linked hypophophataemic rickets Malnutrition Constituational delay: delay of puberty onset, typically with mild skeletal disproportion and short back compared to leg length. Delay in BA maturation. No Rx unless distress, in which case sex steroids (eg IM testosterone every 4w) can be given for 3-6mo to induce pubertal changes

Rare tumours

Hepatoblastoma: primary liver tumour <1yo, chemo + surgery Malignant melanoma: usually preexisting condition eg XP Rhabdoid tumours: highly aggressive, arise in kidneys or CNS. Poor prognosis. Surgery, chemoRT Phaeo Nasopharyngeal carcinoma: teenagers, associated w/ anti-EBV Abs. BIFN + surgery + chemoRT V rare: papillary thyroid ca, adrenal carcinoma

Hereditary membrane defects

Hereditary spherocytosis: AD ankyrin, northern EU. Spherical RBCs less deformable, become stuck in spleen leading to extravascular haemolysis, splenomegaly and jaundice. Can be mild and compensated or severe and transfusion dependent. Infection exacerbates, B19 infection causes aplastic crisis in compensated cases. Folate deficiency due to massive RBC turnover Film shows spherocytes with reticulocytes, MCHC raised (hyperchromic). Osmotic fragility performed in past, but now not required (flow cytometry if required to confirm) Rx: folate supplementation, blood transfusion during aplastic crises. Splenectomy between 5yo and puberty, if anaemia not compensated + FTT, chronic gallstone formation, cosmetic concern of jaundice (rare) Hereditary elliptocytosis: AD, mostly asymptomatic although severe phenotype possible. Protects against malaria. Film shows elliptocytes. Presentation and managment as for HS Hereditary pyropoikilocytosis: RBCs highly sensitive to raised temp. Jaundice + splenomegaly, splenectomy if severely affected Hereditary stomatocytosis: AD, variable severity

Homocystinuria

Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in an accumulation of homocysteine which is then oxidized to homocysteine. Features often patients have fine, fair hair musculoskeletal: may be similar to Marfan's - arachnodactyly etc neurological patients may have learning difficulties, seizures ocular: downwards (inferonasal) dislocation of lens increased risk of arterial and venous thromboembolism also malar flush, livedo reticularis Diagnosis is made by the cyanide-nitroprusside test, which is also positive in cystinuria. Treatment is vitamin B6 (pyridoxine) supplements.

Idiopathic hypertrophic pyloric stenosis

IHPS. M>F, white>blacks, FHx, first born. Idiopathic, circular muscle hypertrophy causes pyloric enlargement producing 'tumour' Projectile vomiting starting in 2-4th week of life ~30min post-feed. Non-bilious, may contain coffee ground or fresh blood (oesophagitis). Occurs within 1h of feeding, baby immediately hungry. May not be projectile if presents 1-2nd week (misdiagnosed as GOR) Constipation (reduced fluid intake), dehydration, malnutrition, jaundice. ALl late signs Rare beyond 12w age Test feed: baby allowed to feed on mum's lap while abdo examined. Visible waves of gastric peristalsis pass across upper abdo. Pyloric tumour (firm olive-shaped mass) just above and to right of umbilicus, either early in feed on just after baby has vomited. If not felt, USS confirms diagnosis Hypochloraemic, hypokalaemic metabolic alkalosis Rehydrate and correct alkalosis, IV fluids. Withhold feeds, empty stomach w/ NGT. Then surgery - Ramstedt's pyloromyotomy (split thickened pyloric muscle (myotomy), careful not to perforate into stomach. Pyloric mucosa can then bulge through gap. Feeds withheld overnight, transient post-op vomiting resolves within 36h

Thrombocytosis

INCREASED PRODUCTION Reactive: most common. Inflammation, infection, haemorrhage, trauma IDA, Wilms tumour Primary MPD: ET, CML DECREASED DESTRUCTION Post-splenectomy

MCD

Idiopathic Drug-induced: lithium, NSAID, rifampicin Paraneoplastic: haematological malignancy, usually Hodgkin's Infectious: mononucleosis Does not cause ESRD Nephrotic syndrome with selective proteinuria Renal biopsy: light microscopy normal, EM shows effacement of podocyte foot processes. Only biopsy if <12mo, >12y, HTN, macroscopic haematuria, impaired renal function, reduced C3/C4, no steroid response Prednisolone 4-16w. 75% respond, >50% relapse. Wean over 4mo If frequent relapses: cyclophosphamide, ciclosporin, tacrolimus

Epilepsy

Idiopathic (2/3) Structural: Cortical scarring (head trauma years back), developmental (dysembryoplastic neuroepithelial tumour, cortical dysgenesis), SOL, stroke, hippocample sclerosis (after febrile convulsion), vascular malformations Other: tuberous sclerosis, sarcoidosis, SLE, PAN, Abs to voltage-gated K channels For all, may have a prodrome of mood/behaviour change for preceding hours/days. Then aura, which is typically epigastric discomfort, dejavu, strange smells, flashing lights. Post-ictally may be headache, delerium, myalgia, Todd's palsy, dysphagia (temporal), post/inter-ictal psychosis (for epilepsy>10y) May have triggers (alcohol, stress, flickering lights) Chronic psych: cognitive deterioration (repeated cerebral hypoxia), major depressive episodes (50%, can convert to pseudoseizures), mania (right TLE), epileptic personality syndrome (Waxman-Geshwind syndrome - religiosity, hyposexuality, hypergraphia, viscosity of personality - associated with chronic TLE), violence Focal seizures (partial - one hemisphere, commonly structural) Without impairment of consciousness: simple - no postictal symptoms With impairment of consciousness: complex - postictal confusion Evolving to a bilateral convulsive seizure: secondary generalised Temporal: Automatisms (lip smacking, chewing, swallowing, fumbling, fiddling, grabbing), dysphasia, Dejavu, Jamaisvu, emotional disturbance (sudden terror, panic, anger, derealisation/out-of-body experience), hallucinations of smell/taste/sound, delusional behaviour, bizzare associations Frontal: motor features (posturing/peddling movements of legs), Jacksonian march (starting with face or thumb), motor arrest, behavioural disturbances, dysphasia, speech arrest, Todd's palsy Parietal: sensory features (tingling, numbness, rarely pain), can migrate to motor regions Occipital: visual features (spots, lines, flashes) Generalised (both hemispheres, abnormal activity throughout) Absence: <=10s pauses. Typically child stops talking mid sentence, then continues after pause. bilateral, symmetrical 3Hz spike and wave pattern Tonic-clonic: limbs stiffen (tonic), then jerk (clonic). Postictal confusion and drowsiness Myoclonic: sudden jerk of limb, face or trunk. Pt may be thrown to ground Atonic/Akinetic: sudden loss of mucle tone causing fall, no LOC Infantile spasm: typical in tuberous sclerosis Pseudoseizure: gradual onset, prolonged duration, abrupt termination, closed eyes+resistance to opening, rapid breathing, fluctuating motor activity, episodes of motionless unresponsiveness Refer all seizures <2w Exclude provoked seizures: trauma, stroke, haemorrhage, high ICP, alcohol/benzo withdrawal, metabolic disturbance (hypoxia, Na/glucose imbalance, hypocalcaemia, uraemia, liver disease), infection (meningitis, encephalitis), fever, drugs (TCA, cocaine) Consider EEG ALWAYS DO MRI in focal epilepsy in children Advise about dangers of swimming, heights, driving until diagnosed. Inform DVLA and no driving until 1y seizure-free (6mo if don't have epilepsy). Only treat after 2 seizures, or 1 with evidence of causative agent Focal: Carbamezapine or lamotrigine. Alternatives are levetiracetam, oxcarbazepine, valproate Tonic-clonic: valproate or lamotrigine. Alternatives are carbamezapine, clobazam, levetiracetam, topiramate Absence: valproate or ethosuximide. Alternative lamotrigine Myoclonic: valproate. Alternatives levetiracetam, topiramate. CI carbamezapine, oxcarbazepine (worsen seizures) Tonic or atonic: valproate or lamotrigine antiepileptics may be stopped after 2y by slow tapering (can not drive until 6mo after last dose) Psycho: relaxation, CBT may benefit some, do not change seizure frequency Surgical: resection of single epileptogenic focus (eg hippocampal sclerosis), vagal nerve stimulation, DBS Complications Sudden unexpected death in epilepsy (SUDEP): more common if uncontrolled Pregnancy: enzyme-inducers reduce progesterone only OCP, oestrogen OCPs lower lamotrigine levels. Enzyme enducers can cause haemorrhagic disease of newborn due to vit k deficiency, consider vitK in last 4w of pregnancy Fetal abnormalities: 5% risk. Lamotrigine is not harmful to infants, not present in milk, so try to transfer (dose will need to be increased by 12-20w to maintain serum levels). Good seizure control reduces risk ONCE PREGNANT DO NOT CHANGE MEDICATION, postnatal breastfeeding for slow neonatal withdrawal

Uveitis

Idiopathic (50%): u/l pain, photophobia, redness, reduced VA. O/e: circumlimbal injection, KP in inferior Arlt's triangle, AC flare, synechiae, cells HLA-B27 related (50%): more severe AC inflammation sometimes even with hypopyon. Can cause CMO after resolution. Associated with all sero-ve SpA Rx: frequent topical steroids, pupillary dilation to break synechiae and ease pain Other causes (rare) HSV/VZV/CMV Posner-Schlossman syndrome Systemic: DM, sarcoidosis, carotid artery stenosis (Anterior segment ischaemia), Kawasaki (1st week) Renal: TINU, IgA nephropathy Rheum: JIA Viral: patchy iris atrophy w/ TI (HSV+VZV) defects and concomitant keratitis and commonly glaucoma (open angle). Treat uveitis with topical steroids, keratitis with antivirals. CMV does not cause iris atrophy, but causes corneal endotheliitis. Retinitis in HIV+ve. Rx oral valganciclovir ANY UVEITIS IN IVDU IS CANDIDA UNTIL PROVEN OTHERWISE Anterior segment ischaemia: dull u/l ache with AC flare/cells, sluggish pupil. May have signs of OIS. Ix carotid doppler Rx vascular surgery TINU: rare association of tubulointerstitial nephritis with uveitis, usually 2ndary to infection or drugs. Anterior b/l, after systemic disease. Ix: renal biopsy, U+E, UM JIA: b/l, asymptomatic white eye w/ band keratopathy, small KPs, AC cells/flare/PS, cataract, 2ndary glaucoma, CMO. Screened until 12yo. Rx: systemic + topical steroid, steroid-sparing agents

Scoliosis

Idiopathic, neuromuscular, syndromic (Marfan's, NF), other (tumour, osteoporosis, infection) Infantile idiopathic scoliosis (<3yo): L>R, M>F, associated plagiocephaly (parallelogram shaped head due to flat indentation at back - excessive supine positioning), hip dysplasia, other defects Juvenile idiopathic scoliosis (3-10yo): high risk of progression requiring surgery Adolescent idiopathic scoliosis Most frequent spinal abnormality, usually affecting girls 11-16yo. Curvature causes pain, cosmetic issues and restrictive lung disease. On bending over, rib hump may be seen Refer to specialist for Cobb angle measurement. Bracing can slow progression but not correct deformity, and should be worn>20h/d (poor adherence). Surgery only if progression likely or complications. Spinal fusion and stabilisation, with intraoperative spinal cord monitoring to prevent paralysis (<0.2%)

Osteochondritis dissecans

Idiopathic. Subchondral bone becomes avascular, then osteochondral fragments break away from bone to form loose bodies. Typically lateral side of medial femoral condyle or capitellum of 13-21yo male. Presents with pain after exercise and intermittent swelling, with sudden painful locking of joints once loose bodies have formed. XR: lucent areas (about to separate) and fragments (separated) If stable, treat conservatively (rest, NSAIDs, splinting) as spontaneous healing can occur. If unstable, fragments may be pinned or removed via arthroscopy

Food allergy

Immediate, IgE anti-food, 70% FHx atopy, less common w/ increasing age Common: cow's milk proteins, eggs, peanuts, wheat, soya, fish, shellfish, tree nuts Diarrhoea +/- blood/mucus, vomiting, dysphagia/GOR, abdo pain, FTT, eczema/asthma, urticaria, peri-oral erythematous rash. If severe, anaphylaxis Food intolerance more common: non-immuno adverse reaction to food. Eg Lactose intolerance Lactose intolerance: typically transient (4-6w) post-viral gastroenteritis lactase deficiency (rotavirus). Lactase levels gradually decrease w/ age (esp SE Asian, Afro-Caribbean). Rarely due to primary congenital deficiency (infant w/ severe diarrhoea after lactose exposure) Diarrhoea, excessive flatus, colic, peri-anal excoriation, stool pH<5 Rx: lactose-free formula milk (not soya in <6mo) Cow's milk protein allergy: commonest in infants, due to mother drinking cow's milk or formula. CMPA = immediate reaction, CMPI delayed mild reaction. Symptoms depend on location. Irritability, crying (colic symptoms) Upper GI: vomiting, feeding aversion, pain Small intestine: diarrhoea, abdo pain, protein-losing enteropathy, FTT Colon: diarrhoea, acute colitis (blood+mucus) - most common May have wheeze, chronic cough, urticaria, atopic eczema, rarely angiooedema + anaphylaxis Rx: maternal milk exclusion, hydrolysed formula (elemental if unresponsive). Cross reactive w/ goats/sheep's/soya milk. Challenge after 6-12mo Food diary. RAST/allergy testing. If severe and unidentifiable, start with just lamb, rice, water, pears (hypoallergenic), then gradually add Dietary exclusion (also mother if breastfeeding) Regular Na cromoglicate, steroids, antiH may play role IM adrenaline PRN After 6mo-1y symptom free w/ exclusion, consider food challenge (majority resolve by 2yo, not peanut allergy)

Orbital cellulitis

In younger children orbital septum not fully developed, so easier to spread. caused by S. pneumoniae, S. aureus, S. pyogenes, H. influenzae RFs infectious: ethmoidal sinusitis, maxillary sinusitis, preseptal/facial cellulitis, dacryocystitis, dental abscess trauma: septal perforation, retained FB Surgery: orbital, lacrimal, vitreoretinal surgery immunocompromised Fever, malaise, periocular pain. Swollen, red, tender, warm (inflammed) lids, chemosis, proptosis, painful restrictd eye movementsa, diplopia, lagophthalmos, CNII dysfunction (reduced VA, colour vision, RAPD) Complications: exposure keratopathy, raised IOP, CRAO, CRVO, optic neuritis. Orbital/periorbital abscess, cavernous sinus thrombosis, meningitis, cerebral abscess Blood culture (low yeild), FBC CT orbit/sinuses/brain: abscess, diffuse orbital infiltrate, proptosis, sinus opacity Admit, IV Abx Mark extent of skin inflammation (rule out nec fasc) regular review of orbital/visual functions ENT to assess sinus drainage (90% adults) If refractory, repeat CT for abscess

HSV

Incubation 2-7d'tingling' prodrome, then vesicles, which burst into shallow ulcers. Systemic features (fever, malaise, lymphadenopathy). Heals in 8-12d. reactivation usually much less severe Herpes labialis: cold sore - usually HSV1 reactivation from previous gingivostomatitis. Early topical aciclovir to abort episodes Genital herpes: usually HSV2. Flu-like prodrome, then vesicles/shallow ulcers around genitals, anus, throat. urethral discharge, dysuria, urinary retention, proctitis Gingivostomatitis: fever/sore throat, then tender oropharyngeal vesicles. Typically preschool children, resolving within 2w. 2ndary bacterial infection common. Give analgaesic mouthwashes, topical acyclovir cream, NGT fluids if dehydration due to reluctance to swallow

RRT

Indications: Refractory hypervolaemia (eg pulmonary oedema) Refractory HTN Serositis Acid-base/electrolyte abnormalities Pruritus Nausea/vomiting/nutritional deterioration Cognitive impairment/encephalopathy Haemodialysis: Given through AV fistula, >=3 times/w (higher frequency=better outcomes). SE - access site (AVfistula=thrombosis,stenosis,steal syndrome. Tunneled=infection, blockage, recirculation of blood), dialysis disequilibrium (cerebral oedema), hypotension Peritoneal dialysis: uses peritoneum as semipermeable membrane. Ultrafiltration by osmotic agents in fluid. 4 2L exchanges/d, continuous. SE: catheter site infection, PD peritonitis (Staph epidermidis, Staph aureus), hernia, loss of membrane function over time Haemofiltration: Fluid+solutes pushed out, then new, clean fluid pushed in (no diffusion gradients). Does not cause hypotension, so used in critical care in unstable pts. Complications as for CKD: CVS, malnutrition, renal osteodystrophy, infection (due to uraemia) Amyloidosis: B2 microglobulin accumulates in long-term dialysis causing carpal tunnel syndrome, arthralgia and visceral effects All dialysis pts have target weight - useful for fluid balance in acute assessment. Pre-op, K<5.5, check urgently post-op. DO NOT use AVfistula for IV access, or AVfistula arm for BP

Growth

Infantile: birth-2yo, nutrition and insulin dependent Childhood: 3yo-puberty (11yo), GH dependent (provided adequate nutrition/health), also thyroxine Puberty (12yo to 18yo): GH and sex hormone dependent. Sex hormones cause growth spurt. Oestrogen in both sexes induces epiphyseal maturation/fusion, causing linear growth cessation. Females have earlier, lesser growth spurt (taller than males 10-13yo), males have later and greater Weights: 0-1yo 5, 1-2yo 3, >2yo annual. Target height: genetically determined. Can be estimated by midparental height. MPH = (Mum + Dad)/2 + (- if female) 6.5cm Measurement (auxologist) birth-2yo: horizontal length by Harpenden neonatometer Children >=2yo: standing height by stadiometer with moderate upward traction to child's head with child looking forward Sitting height: leg length = standing height-sitting, gives an idea of proportionality Bone age: XR of left hand and wrist, either compared to atlas (Gruelich and Pyle method) or scored (Tanner-Whitehouse methods). Maturation at 15/17yo F/M, can be used to predict final height and puberty onset If <2nd centile, GP review. If <0.4th centile, paediatrician Puberty: nocturnal pulsatile secretion of GnRH initiates puberty by causing pulsatile LH and FSH secretion. Females earlier than males 10.5 vs 12 (earlier in Afro-Caribbean) Tanner female I: prepubertal II: Accelerated growth, breast budding, sparse straight pubic hair III: Peak growth velocity, elevation of breast contour, coarse/curly pubic hair spreading to mons pubis + axillary hair IV: Growth slowing, areolae form secondary mound, adult pubic hair sparing thighs V: No further height increase, adult breast contour, adult pubic hair type and distribution (including thighs) Menarche should occur in III-IV, 2.5y after start of puberty (13yo average) Tanner male I: prepubertal II: enlargement of testes and scrotum to 4-8ml, sparse long pigmented strands at penile base. Voice starts to change III: Lengthening of penis, testes 8-10ml, darker curlier hair spreads over pubis, axillary hair IV: increasing penile length and breadth, adult hair type sparing thighs, testes 10-15ml, upper lip hair, peak height velocity V: adult shape and size, hair spread to medial thighs, testes 15-25ml, facial hair spreads to cheeks, adult voice

Intussusception

Infants 6-18mo age, M>F, usually in association w/ viral gastroenteritis. Enlarged Peyer's patch in ileum acts as lead point which then invaginates into distal bowel. In older children/adults, lead point more likely pathological (polyp or Meckel's diverticulum). Causes SBO, rectal bleeding (intussuscepted bowel becomes engorged) and eventually necrosis, perforation and peritonitis. Classically ileocolic, sometimes ileo-ileal. Can occur as post-op (classically nephrectomy) complication Spasms of colic abdo pain associated w/ pallor, screaming and drawing-up legs. Child falls asleep between episodes. As progresses, bile-stained vomiting and rectal bleeding (red currant jelly stools). Child appears ill, listless and dehydrated, and eventually shock and peritonitis occur. In 30%, intussusception palpable as sausage shaped mass in RUQ AXR: SBO, sometimes soft tissue mass visible USS to confirm: characteristic 'target sign' Resuscitate (may require huge amounts of fluid), Abx, analgaesia, NGT (if vomiting) Radiological reduction: ONLY IF no peritonitis and facilities for immediate surgery available. Rectal insufflation of air under fluoroscopic control. SE - incomplete reduction or perforation (leading rapidly to tension pneumoperitoneum, v. dangerous) Laparotomy: if this fails or CI. Distal bowel gently compressed to reduce intussusception. If not successful, resected. ~10% recurrence

Acute encephalopathy

Infection Metabolic (mitochondrial dysfunction) Autoimmune (ADEM) ICP (SOL) Hypoxia (HIE) Trauma Tocins (alcohol) Nutrition (B1) Radiation Impaired cognition +/- focal neuro signs. Typical EEG trace with abundance of slow waves. Reduced GCS (<8 intubate) If no confirmed non-infective Dx, Rx for meningitis + PO clari (mycoplasma) and acyclovir (HSV) ONLY when stable do LP and neuroimaging (MRI)

Deep folliculitis

Infection of entire follicle, tender. Can affect surrounding tissue (furunculosis/boil, can progress to abscess/cellulitis (more likely with PVL Staph) or discharge and scar) and can coalesce to form a tender erythematous nodule (carbuncle) - pus discharges from several points PO flucloxacillin (antiStaph) Carbuncle: incise and drain

Thrombophilia

Inherited Factor V leiden: Point mutation in 5% of population causes resistance to activated protein c (APC) mediated breakdown. 5x increased risk of VTE (50x if homozygous) Prothrombin mutation: causes highly increased prothrombin production, promoting fibrin formation and inhibiting fibrinolysis via thrombin-activated fibrinolysis inhibitor Protein C/S deficiencies: VitK dependent factors cleave factor V/VIII. Heterozygotes predisposed to thrombosis/skin necrosis (esp on warfarin). Homozygotes get neonatal purpura fulminans Antithrombin III deficiency: less common. Heterozygotes high risk, homozygote incompatible with life Hyperhomocysteinaemia: homocystinuria or B12/folate deficiency Hyperlipidaemia Acquired APLS: lupus anticoagulant and anti-cardiolipin Ab). Predisposes to arterial and venous thrombosis, thrombocytopenia and fetal loss. Usually primary, but can be secondary to SLE OCP/HRT Polycythaemia or thrombocytosis Screen if: Arterial thrombosis <50yo Unprovoked VTE (<40yo) VTE with OCP or pregnancy Unexplained recurrent VTE Unusual site (mesenteric/portal vein thrombosis) Recurrent fetal loss (>=3) Neonatal thrombosis FBC, clotting+APC resistance test, APLS Abs, antithrombin/protein C/S assays. If APC +ve, PCR for V leiden mutation. PCR for prothrombin mutation if indicated Anticoagulate acutely. If recur with minimal risk factors, initiate lifelong anticoagulation. If recur again, increase INR target (4-5). Beware of warfarin with Protein C/S deficiencies Neonatal purpura fulminans: FFP or protein C conc for 6-8w until skin healed

Juvenile dermatomyositis

Insidious onset, rash may precede muscle involvement. Rare, 10-14yo Periorbital oedema + heliotrope discolouration of upper lids, facial rash including nasolabial folds, Gottron's papules over extensor aspects of MCP, PIP, elbows and knees, nail fold vasculitis Muscle: symmetrical proximal muscle weakness, fatigueable armas+legs, truncal weakness (can't sit from lying), Gower's sign, palatal and resp muscles affected if severe (nasal speech, poor swallowing, reduced lung volume) Arthritis (60%): 2/3 oligo 1/3 poly Lung disease uncommon: interstitial fibrosis, pulmonary vasculitis Late complications: calcinosis of skin, fascia, subcut fat and muscle. Lipodystrophy Elevation of CK, AST, LDH, aldolase Typical MRI changes (superseded EMG and biopsy in kids) - diffuse T2 white signal throughout muscle Steroids, MTX if severe, cyclophosphamide for vasculitis. Continue Rx for 18mo after remission

Kyphosis

Is it flexible? Is it painful? When did it start? Postural kyphosis: most common. flexible, painless, onset <10yo. Tall F>M, poor physical development, flat footed, poor at games. Supine hyperextension lateral radiograph confirms complete correction. Rx PT to improve posture, occasionally brace. Corrects spontaneously by end of adolescence Congenital kyphosis: rigid, occasionally painful, <10yo. Severe deformities recognised at birth, associated w/ spinal abnormality (NTDs). Brace, if progression fuse to prevent paraplegia (can occur rapidly) Scheuermann's disease: rigid, aching between shoulder blades, 10-15yo onset

Tracheo-oesophageal abnormalities

Isolated TOF: choking/coughing during feeding, abdo distension, recurrent LRTI. Diagnosis may only be made in childhood. Tube injection of XR constrast into oesophagus and bronchoscopy. Rx surgical division of fistula via neck OA: maternal polyhydramnios with mucousy baby, choking/cyanosis on feeding (aspuration), 50% VACTERYL abnormalities - Vertebral (fused vertebrae, hemivertebrae), Anorectal (imperforate anus), Cardiac, TOF, renal, limb (radial ray anomalies - hypoplastic thumbs). Ix: pass NGT. CXR - tube stops in upper thorax. If isolated, no air in stomach. If OA+distal TOF, air in stomach. Rx: keep warm, don;t disturb. Regular suction of OA pouch (Replogle tube). If ventilation required, emergency, as progressive gastric distension through TOF, impeding ventilation and eventually causing perforation. SURGERY - R thoracotomy to disconnect TOF and anastomose OA (if hgh risk done as 2 surgeries. If long gap, cervical oesophagostomy + feeding gastrostomy then oesophageal replacement during infancy (Foker operation which stretches edges internally is new alternative) Risks: recurrence of TOF, anastamotic leak, anastamotic stricture Respiratory morbidity for these kids high, admit during resp infections. Obstruction of oesophagus (classically unchewed meat) common in toddlers and young children post-repair, refer for urgent oesophagoscopy

Anaemia

KIDS: at birth up to 220, then falls to 110 by 3mo, sex differences appear only at puberty Microcytic Iron deficiency anaemia: most common Thalassaemia: MCV too low for Hb level, RBC count raised Sideroblastic anaemia: very rare Normocytic Acute blood loss Anaemia of chronic disease (can be microcytic) Bone marrow failure Renal failure Hypothyroidism (can be macrocytic) Haemolysis (can be macrocytic) Pregnancy Macrocytic Megaloblastic: B12 or folate deficiency, Antifolate drugs (phenytoin). Blood film may show hypersegmented neutrophils Alcohol excess Liver disease Reticulocytosis (eg haemolysis) Cytotoxics (hydroxycarbamide) Myelodysplastic syndromes Marrow infiltration Hypothyroidism Haemolytic: reticulocytosis, mild macrocytosis, low haptoglobin, high LDH, bilirubin, urobilinogen. Pts will be mildly jaundiced KIDS: poor feeding, poor growth Fatigue, SOB, faintness, palpitations, headache, tinnitus, anorexia, angina (if pre-existing CAD) Conjunctival pallor. If severe, may be signs of hyperdynamic circulation: tachycardia, flow murmur (ESM loudest at apex), cardiac enlargement, retinal haemorrhages (rare), and finally heart failure Chronic anaemia well tolerated, do not transfuse. If acute anaemia, Hb<70, consider transfusion. If in heart failure, take great care. Co-administer blood with furosemide

LD

LD, IQ <70 is indicator. Defect in intellectual function confirmed by IQ and conceptual (language, reading, writing, maths, reasoning, knowledge, memory), social (empathy, social judgement, communication skills, friendships), practical (personal care, job responsibilities, money management) deficits Subcultural: normal for family and culture (low SEC), no dysmorphic features, no functional impairment Minor (50-70): delay in acquiring speech but eventually able to use everyday speech, can self-care and sometimes work but academically challenged, most no organic aetiology Moderate (35-50): permanent deficit in language/numeracy and comprehention, sometimes can do simple supervised occupation, most organic Severe (20-35): marked motor impairment, low visuospatial, language, social skills Profound (<20): severe neuro and physical disability, almost no skills, comprehension or language Improve sensory deficits (glasses, HAs) and communication (PECS, Makaton, sign language). Generally try to keep at home/mainstream schools but may require admission to specialist environments Behavioural and cognitive therapies (CBT)

Eczema herpeticum

Life-threatening generalised HSV infection, typically in children with atopic eczema (sometimes even burns, pemphigus, Darier disease, ichthyosis) Sudden deterioration in atopic eczema, pain, intense itching, malaise, V+D, anorexia, fever (sometimes), vesicles-> papules and pustules. Small punched-out ulcer which can coalesce into one irregular ulcer. Oozing, haemorrhagic and crusting with lymphadenopathy Vesicle swabs for viral PCR and bacterial culture Tzank smear preparation confirms diagnosis PO (IV if severe) acyclovir and flucloxacillin. AVOID TOPICAL STEROIDS.

Nec Fasc

Life-threatening soft-tissue infection characterised by rapidly progressive necrosis spreading from subcutaneous tissue to deep fascia. 25% mortality (organ failure, STSS). Consider in all pts failing cellulitis Rx RF: immunosuppression (DM, AIDS, malnutrition), chronic alcohol/drug abuse/IVDU, surgery/other trauma, obesity, malignancy, PVD Type I: polymycrobial, obligate+facultative anaerobes, trunk and perineum, elderly cormorbid (eg DM) Type II: GAS, young healthy pt, +/- staph spp. Aggressive, associated w/ trauma, surgery, IVDU. Can cause TSS Type III: Clostridium spp (commonest perfringens - gas gangrene), or gram-negative marine organisms (eg Vibrio vulnificus). Associated with trauma/surgery, rapid progression Type IV: fungal (Candida spp, Zygomycetes). Limbs, trunk, perineum. Immunosuppression Ill pt w/ fever, tachycardia, hypotension and pain out of proportion with clinical signs, altered LOC (shock = 50% mortality). Rapidly spreading poorly demarcated purplish erythema (extremeties -> perinium -> genitalia/Fournier's gangrene), with oedema spreading beyond. Malodorous serosanguineous exudate (dishwater pus) with soft tissue crepitation Later: black necrotic plaques, painless ulcers, vascular occlusion/gangrene MC&S any draining fluid MRI/CT: identify subcut air, define extent of involvement Finger test: vertical excision to deep fascia. Put finger in. If subcut tissue easily comes off deep fascia, +ve (w/ necrotic tissue/dishwater pus between planes) Diagnosis clinical. Admit to ICU. Immediate deep surgical debridement of all necrotic tissue (w/ MC&S of deep tissue Bx). IV broad spectrum Abx (cipro + benzylp + clind), consult with micro. Consider IVIg if TSS

Epistaxis

Local Trauma (eg nose picking, damages anterior sepatl plexus - little's area. Foreign body) Infection (URTI, allergic rhinitis) Tumours SYSTEMIC HTN Drugs: anticoagulants, NSAIDs Coagulopathy: haemophilia, leukaemia, DIC VWD HHT Lean forwards, pinch fleshy part of nose. Pub ice on nasal bridge/suck ice-cube. Avoid swallowing blood Nasal packing Admit, sedate, leave for 24-48h secured anteriorly Anterior: nasal tampon lubricated with Abx cream (Naseptin), then hydrated Posterior: epistaxis balloon or foley catheter. Inserted, balloon inflated then pulled backwards to occlude posterior choana. Clamp at nostril If <2yo, refer (rare in this age group)

Anorectal malformations

Low: rectum present, passes through sphincter complex, then ends. In boys, tiny fistulous tract often opening anteriorly on scrotum or perineum. If meconium visible on perineum, local 'cutback' procedure to open fistula back to rectum F Intermediate: rectum goes through sphincter complex, opens up into posterior fourchette of introitus as rectovestibular fistula. Requires 3 stage procedure (defunctioning colostomy, anorectal reconstruction, stoma closure). VUR common High: rare F but common M. Sphincter complex poorly developed, so poor prospects for continence. M - rectum makes fistulous connection with urethra. 3 stage procedure (defunctioning colostomy within 48h postpartum, reconstruction at few mo (posterior saggital anorectoplasty via midline perineal incision), then colostomy closure Failure to pass meconium, abdo distension, bile-stained vomiting

RBC fragmentation

MAHA: HUS, TTP, giant capillary haemangioma (Kasabach Merritt syndrome), DIC Infection: meningococcal, pneumococcal, blackwater fever, viral haemorrhagic fever, clostridium perfringens Mechanical: prosthetic heart valves, March haemoglobinuria Hereditary acanthocytosis (rare - abetalipoproteinaemia, mental retardation, ataxia, RP, steatorrhoea) Envenomation: snakes, spiders Reticulocytes/nucleated RBC, shistocytes, microspherocytes, acanthocytes

Head size abnormalities

Macrocephaly: HC>99.6th centile. By far most common is familial, measure both parents' HC. Exclude hydrocephalus Hydrocephalus: obstructive (aqueduct stenosis, post fossa tumour), communicating (meningitis, SAH, IVH). Children - headache + vomiting. Babies - concerns about head growth + developmental delay. Sunsetting eyes, papilloedema, hyperreflexia, spasticity, poor head control, bulging fontanelles. VP shunt Microcephaly: OFC<2nd centile, may be normal variation (parents have small head, or small child) Pathological microcephaly: HC <0.4th centile. Small brain, majority have developmental and neurological abnormalities. May be due to congenital infection, HIE, FAS, Patau, craniosynostosis. Ensure Guthrie screening (PKU), repeat. If no cause found, assume AR microcephaly, inform 25% recurrence risk

Physeal osteochondrosis

Madelung deformity: defect in distal radial physis causing shortened tilted radius, prominent ulna. Teenage girl w/ pain, reduced RoM, abnormal wrist joint. Rx analgaesia + surgery Scheuermann's Blount disease: tibial physis causing genu varus

Malnutrition

Mid-arm/head circumference <0.31 (better than weight due to oedema). Albumin, BMI may be useful Kwashiorkor: due to severe protein/aa deficiency. Growth retardation, diarrhoea, apathy, anorexia, oedema, skin/hair depigmentation, abdo distension, fatty liver Ix: hypoalbuminaemia, normo/microcytic anaemia, low Ca/Mg/PO4/glucose Marasmus: due to severe energy/caloric deficit. Height conserved compared to weight, wasted appearance, mucle atrophy, listless, diarrhoea, constipation Ix: all above + low Hb Rx Correct dehydration + electrolyte imbalance, Rx underlying infections or any causative disease Refeed: slowly! beware refeeding syndrome. Correct U+E abnormalities first. Then PO or IV feeding (if TPN must monitor all electrolytes 1-2/w) TPN complications: central line complications, electrolyte disturbances, PN-associated liver disease, lipids (platelet dysfunction, hyperlipidaemia, fatty liver, PHTN), metabolic bone disease

AOM

Middle ear infection, typically viruses, pneumococcus, GAS, H. influenzae, M. catarrhalis preceding URTI, severe progressive otalgia, discharge (associated with resolution of otalgia) BEWARE: nocturnal otalgia usually glue ear/eustachian tube dysfunction COMPLICATIONS Chronic infection: resistant bacteria, use cipro +/- myringotomy for micro CNVII palsy: 10% have dehiscent facial n (runs within middle ear instead of bony canal). Admit, give IV abx (cefuroxime). If total paralysis, pred 1w. If no resolution in 24h myringotomy + grommet Acute mastoiditis: spread through mastoid antrum. Severe otalgia, swelling, tenderness and erythema behind pinna, with pinna pushed forwards. Can also lead to mastoiditis, Bezold's (neck) abscess and Citelli's (digastric fossa) abscess Chronic perforation: recurrent infection + recurrent perforation can cause chronic perforation with consistent painless discharge Inner ear: infection/toxins can spread causing SNHL or vertigo (para-labrynthitis) Analgaesia Abx (co-amox) if <2yo+b/l OR otorrhoea Discharge lasts ~1w, check tympanic membrane after resolution Recurrent(>5inf in 6mo) Infection diary Medical: TMP/SMX ON 3mo Surgical: grommet insertion +/- adenoidectomy (blocks eustachian tube) if effusion or glue ear >3mo

Otitis media

Middle ear infection. Viruses, pneumococcus, GAS, Hib preceding URTI, severe progressive otalgia, discharge (associated with resolution of otalgia) BEWARE: nocturnal otalgia usually glue ear/eustachian tube dysfunction COMPLICATIONS Chronic infection: resistant bacteria, use cipro +/- myringotomy for micro CNVII palsy: 10% have dehiscent facial n (runs within middle ear instead of bony canal). Admit, give IV abx (cefuroxime). If total paralysis, pred 1w. If no resolution in 24h myringotomy + grommet Acute mastoiditis: spread through mastoid antrum. Severe otalgia, swelling, tenderness and erythema behind pinna, with pinna pushed forwards. Can also lead to mastoiditis, Bezold's (neck) abscess and Citelli's (digastric fossa) abscess Chronic perforation: recurrent infection + recurrent perforation can cause chronic perforation with consistent painless discharge Inner ear: infection/toxins can spread causing SNHL or vertigo (para-labrynthitis) Analgaesia Abx (co-amox) if <2yo+b/l OR otorrhoea Discharge lasts ~1w, check tympanic membrane after resolution Recurrent(>5inf in 6mo) Infection diary Medical: TMP/SMX ON 3mo Surgical: grommet insertion +/- adenoidectomy (blocks eustachian tube) if effusion or glue ear >3mo

Neuronal defects

Migration defects Lissencephaly: smooth brain, may have unusual facies, dysphagia, FTT, seizures, severe LD, deformed hands/fingers/toes. Due to Lis1 mutation Pachygyria: paucity of gyri with similar outcomes but milder Heteropia: abnormal positioning of grey/white matter. Children normal or present later with seizures Cortical dysplasia: associated with LD and seizures. Perisylvian polymicrogyria is commonest and produces seizures ad bulbar difficulties Agenesis of corpus callosum: children almost normal but chance of LD and seizures

Melanocytic naevus

Mole. May have hale naevus, autoimmune melanocytic attack causes mole w/ surrounding hypopigmentation Rx none unless cosmetically damaging/recurrent trauma (bra straps

Tetralogy of Fallot

Most common cyanotic CHD. PS (right ventricular outflow obstruction), RVH, large VSD and overarching aorta. Right venous return normal, but PS forces blood through VSD (R->L shift) Cyanosis (severity depends on degree of PS) not present at birth (presents anywhere from 1-6mo), clubbing. Paroxysmal hypercyanotic spells (Tet spells): in infancy. Spontaneous unpredictable onset (sometimes after feeding, prolonged crying or defecation) of tachypnoea, restlessness, increasing cyanosis. Then become white and floppy. Can be dangerous, last mins-hours, severe episodes - syncope, convulsions, hemiparesis. Rx place pt in knee-to-chest position, give O2, IV phenylephrine, morphine sulphate and propranolol (reduces infundibular spasm). If prolonged NaHCO3 In adult repaired Pts, RVF (due to PR) and SCD are possible ECG: RVH CXR: boot-shaped heart echo can show degree of stenosis Severe requires early neonatal prostaglandin E infusion and surgery (modified Blalock-Taussig shunt) to maintain pulmonary blood flow Definitive surgery at >4mo age Untreated, chronic cyanosis, R->L shunt and polycythaemia lead to cerberal thrombosis/ischaemia, brain abscesses, IE and CCF. W/ repair, completely asymptomatic (may require pulmonary valve replacement as teenager

Discitis

Most common spinal infection. 50% staph. Strep, Proteus, E. coli, Salmonella typhi, TB also occur RF: DM, immunosuppression, urinary surgery, catheterisation. Can be secondary to septic emboli Usually presents with pain and muscle spasm. No fever, tenderness. In kids, fever, irritabiliy, unwilling to walk, back/abdo pain High ESR, WCC. XR shows bone erosion, joint space narrowing and subligamentous new bone formation. Technetium/MRI scans better Treat as osteomyelitis, rest back with bed rest, brace or plaster jacket. If refractory, surgery indicated

Appendicitis

Most common surgical emergency, typically 10-20 or 60-70, rare <2 as appendix cone-shaped Appendix lumen obstructed by lymphoid hyperplasia, faecolith, filarial worms. Gut pathogens then invade appendix wall, causing oedeoma, ischaemic necrosis and perforation Periumbilical pain moving to RIF (McBurney's point, 2/3 from umbilicus to right ASIS). Anorexia, tachycardia, fever, peritonism with guarding, rebound/percussion tenderness in RIF. RIF pain during PR suggests inflamed low-lying pelvic appendix. Vomiting rarely prominent, usually due to pain. Constipation usually, but diarrhoea possible Rovsing's sign: Press on LIF; pain in RIF>LIF Psoas sign: pain on extending hip. Suggests retrocaecal appendix Cope sign: pain on flexion+internal rotation of right hip if appendix close to obturator internus Unusual presentations Retrocaecal/retroperitoneal appendix (2.5%): may be flank or RUQ pain, only sign may be PR-induced right sided tenderness Children: vague abdo pain, won't eat food. <4yo uncommon but usually present w/ perforation Elderly: May be shocked, confused, but no pain Pregnancy: pain less well localised (can be RUQ), peritonism less clear, rupture more likely FBC (neutrophilia, normal in 20% of kids), CRP - usually sufficient Do not be fooled by sterile pyuria - may even be bacteriuria - NOT UTI USS may help, CT is most accurate KIDS: USS investigation of choice, 90% accurate prompt appendicectomy to treat, with pre-op tazosin/metronidazole. Open is common (McBurney's/Gridiron's incision or Lanz incision), but laparoscopic approach can be used (CI: gangrenous perforation, as increases risk of abscess formation) Complications Perforation: emergency laparotomy required Infalmmatory appendix mass: Exclude CRC. NBM+Abx. If resolves, consider interval appendicectomy Appendix abscess: Abx. If not sufficient, incisional or percutaneous drainage

Paediatric stroke

Most commonly SCA, CHD, cerebral infection, trauma (aortic dissection) Thrombophilia screen and MRI head, specialist Rx

Intestinal polyps

Mostly hamartomas, single in distal colon. Syndromes Peutz-Jegher syndrome (mucocutaneous pigmentation) Familial polyposis coli Gardner's syndrome (GI polyps, osteomas and soft tissue tumours) Asymptomatic. Can have haematochezia, rectal polyp prolapse, PLE, intussusception, mucoid diarrhoea Endoscopic removal

Allergic rhinitis

Mouth breathing, postnasal drip, cough, nose rubbing, suborbital venous congestion, watery red eyes Allergen testing, IgE Allergen avoidance AntiH, monteleukast, IN steroids

Rectal prolapse

Mucosal or full thickness herniation of rectum through anus, typically in constipated toddlers squatting and straining. Rarely associated w/ diarrhoea, CF and coeliac disease Often reduces spontaneously after defecation. If not, gentle digital reduction. Rx constipation. If prolapse recurrent, submucous injection of 5% phenol in almond oil

SLE

Multisystemic autoimmune disease, caused by widespread IC deposition. Typically women of childbearing age RF: Afrocaribbean, Asian, HLA B8/DR2/DR3 Co-morbidities: CVD, osteoporosis Clinical criteria 1 Acute cutaneous lupus: malar/butterfly rash (50%, fixed erythema, flat or raised, over malar eminences and sparing nasolabial folds). Can also be bullous lupus, TEN variant, maculopapular lupus rash, photosensitive lupus rash, subacute cutaneous lupus (non-indurated psoriasiform and/or annular polycyclic lesions that resolve without scarring) 2 Chronic cutaneous lupus: Discoid rash over ears, cheeks, scalp, forehead and chest. 3 stages - erythema -> pigmented hyperkeratotic oedematous papules -> atrophic depressed lesions 3 Non-scarring alopecia 4 Oral/nasal ulcers 5 Synovitis: involving >=2 joints 6 Serositis: Lung (pleurisy >1d, pleural effusions or pleural rub) OR cardiac (pericardial pain >1d, pericardial effusion, pericardial rub, pericarditis on ECG 7 Urinalysis: proteinuria>0.5g/d OR red cell casts 8 Neuro features: seizures, psychosis, mononeuritis multiplex, myelitis, peripheral or cranial neuropathy, cerebritis/acute confusional state 9 Haemolytic anaemia 10 Leucopenia: WCC<4 or lymphopenia (lymphocytes <1). Must have happened at least once 11 Thrombocytopenia: Plt<100 at least once Non-criteria symptoms: malaise, fatigue, myalgia, fever, lymphadenopathy, weight loss, alopecia, nail-fold infarcts, Libman-Sacks endocarditis, Raynaud's, stroke, retinal exudates Lab criteria 1 ANA (+ve >95%, non-specific) 2 Anti-dsDNA (+ve 60%, v. specific) 3 Anti-Smith (anti-extractable nuclear antigen/ENA, others include anti-Ro/SSA and anti-La/SSB, anti-RNP) 4 Antiphospholipid Abs (lupus anticoagulant, anti-cardiolipin) 5 Low C3, C4 or C50 6 +ve direct Coombs test/DAG Non-criteria findings: High ESR, normal CRP, skin/renal biopsy Score of >=4 (at least 1 clinical and 1 lab), or biopsy proven lupus nephritis+ANA/dsDNA is diagnostic High factor sunblock. Hydroxychloroquine improves survival. Topical steroids for skin flares. NSAIDs for joint/skin symptoms. Azothioprine, MMF and methotrexate can be steroid sparing. Belimumab can be added on for highly active disease Mild flares (no organ involvement): hydroxychloroquine, low dose steroids Moderate flares (organ involvement): DMARDs, MMF Severe flare (haemolytic anaemia, nephritis, severe pericarditis, CNS disease): urgent high dose steroids, MMF, rituximab, cyclophosphamide. MDT for neuropsychiatric Lupus nephritis: intense immunosuppression (MMF, cyclophosphamide, steroids), BP control with ACEi, Tx if progresses, but 50% recur 80% 15y survival

AIS

Mutation in androgen receptor, usually XLR (30% de novo). Testes develop normally, but Mesonephric duct does not (no testosterone action). Paramesonephric duct regresses as AMH not affected COMMONEST cause of undermasculinisation of XY Complete (CAIS): female external genitalia with female gender identity, short blind ending vagina with absent uterus/fallopian tubes, but normal breast development. Sparse/absent pubic and axillary hair. can present prenatally (XY with female USS), postnatally (inguinal hernias/labial swellings found to contain testes), or at puberty (primary amenorrhoea) Partial (PAIS): Spectrum from simple hypospadias to completely ambiguous genitalia. >40% have gender reassignment, gender dysphoria common Mild (MAIS): presents at puberty with high pitched voice and gynaecomastia Lifetime risk of testicular malignancy is 2% in CAIS. If testes remain until puberty, puberty can occur naturally due to aromatization of testosterone into estrogen. After this, gonadectomy recommended as intraabdominal testes are hard to monitor. Will require lifelong HRT, some may need testosterone replacement Once sexually active, vaginal dilation -> vaginoplasty (if required)

ARPCKD

Mutation in c6, rarer than ADPKD Presents ante/perinatally with renal cysts ('salt and pepper' appearance on USS) and congenital hepatic fibrosis progressing to portal HTN No treatment. Poor prognosis if NRDS

Nails

Nail-biting: common habbit, can permanently damage nails. Gentle dissuasion, topical foul-tasting nail solutions Ingrown toenail (onychocryptosis): spicule of nail grows into lateral nail fold leading to pain, bacterial acute paronychia, granulation tissue. Rx local antiseptic, careful trimming of nail spicule, education on toenail cutting, sliver nitrate cauterisation/radical surgery if severe

PAN

Necrotising vasculitis that causes aneurysms and thrombosis in medium-sized arteries, leading to organ infarction and systemic symptoms. Associated with HBV, rare in UK Systemic: fever, malaise, weight loss, arthralgia, myalgia (may be 1y prodrome) Skin: purpura, ulcers, livedo reticularis, nailbed infarcts, digital gangrene Eyes: episcleritis, scleritis, visual loss ENT: epistaxis, nasal crusting, stridor, deafness Cardiac: angina or MI (coronary arteritis), HF, pericarditis GI: pain/perforation (viscus infarction), malabsorption (chronic ischaemia) Renal: HTN, haematuria, proteinuria, casts, renal failure (renal cortical infarcts) Neuro: stroke, fits, chorea, psychosis, confusion, impaired cognition, altered mood. Mononeuritis multiplex, sensorimotor polyneuropathy from vasa nervorum arteritis GU: Orchitis - testicular pain/tenderness Spares lungs High WCC, ESR, CRP. Mild eosinophilia, anaemia, ANCA -ve. Renal/mesenteric angiography or renal biopsy can be diagnostic Control BP. Give steroids if mild, + steroid-sparing agents if severe. After, treat HBV

Trichuris trichiura (whipworm)

Nematode. Feco-oral. Usually asymptomatic. Causes loose stools, anaemia, rectal prolapse in children if heavy infection Mebendazole, albendazole

Enterobius vermicularis (pinworm)

Nematode. Feco-oral. Egg visualisable with tape test. 90% asymptomatic. Causes anal pruritus (+vulval in girls), very common. Direct visualisation of worms in perianal area or stool, or microscopy of of anal sellotape to diagnose Mebendazole single dose (don't need to confirm with tape test) and hygiene advice

Strongyloides stercoralis (threadworm)

Nematode. Larvae in soil penetrate skin. Rhabditiform larvae seen in stool. Serology/PCR available Generally asymptomatic. May cause perianal urticaria, larva currens (oedema, urticaria, serpinginous rash - faster migration than cutaneous larva migrans), Loeffler's syndrome (cough, SOB, wheeze, haemoptysis, consolidation) Mebendazole, albendazole, thiabendazole

Ancylostoma duodenale, Necator americanus (hookworms)

Nematode. Larvae penetrate skin. Cause microcytic anaemia + hypoproteinaemia if get to gut, cutaneous larva migrans (pruritic, serpiginous rash) Mebendazole

Ascaris lumbricoides

Nematode. feco-oral. Knobby-coated, oval eggs seen in stool. Migrates from nose/mouth Can cause ileocecal valve obstruction, biliary obstruction, intestinal perforation, Loeffler's syndrome Mebendazole, albendazole, pyrantel pamoate

Polycythaemia

Neonatal Hypertransfusion: delayed cord clamping, TTTTS, materno-foetal transfusion Endocrine: IoDM, CAH, neonatal thyrotoxicosis Chronic hypoxia: IUGR, placental insufficiency, high altitude Maternal disease: PIH, cyanotic heart disease Syndromic: Downs, Beckwith-Wiedemann syndrome Relative polycythaemia: contractional Older kids Polycythaemia rubra vera Familail polycythaemia Compensatory: cyanotic CHD, severe chronic resp disease/OSA/alveolar hypoventilation (gross obesity, high altitude) Ectopic production: cerebellar haemangioblastoma, renal disease (cysts + carcinoma), HCC Relative: contractional Newborns: asymptomatic plethora, jaundice, hypoglycaemia (RBC glucose consumption), hyperviscosity syndrome (hypotonia, CCF, tachypnoea, seizures, abnormal renal function, NEC) CNS: cerebral irritability, seizures, strokes, cerebral haemorrhage Resp: distress, PHTN (PPHN) CCF Venous thrombosis (eg renal) Cyanosis, hepatomegaly Rx cause Neonates: if PCV/Hct>70%, dilutional exchange with NS until PCV <60%

Precocious puberty

Normal - at 12.7yo menarche, with breast budding 2y prior. Due to increased pulsatile LH secretion Precocious is signs of puberty <8yo or menarche <10yo. Causes early accelerated linear growth, followed by early epiphyseal fusion so short final stature Central (gonadotrophin-dependent) Idiopathic (74%, more likely in girls) Congenital (cerebral palsy) CNS SOL (more likely in boys) Peripheral (gonadotrophin-independent, typically abnormal sequence of pubertal events due to lack of hypothalamic regulation) Primary hypothyroidism Hormone-secreting ovarian cysts McCune-Albright Syndrome Late-onset CAH Work-up TFTs, FSH/LH/oestradiol/17hydroxyprogesterone GnRH stimulation test Bone age (XR wrist) MRI head, pelvic USS Treatment treat cause. Can use GnRH analogues for 4-5y (given continuously, will reduce release of LH/FSH) Premature thelarche: isolated breast development in infant-2yo w/o other pubertal signs. Cause unknown, benign, no effect on growth Thelarche variant: also increased growth rate, BA and ovarian enlargement + oestradiol levels. Midpoint between premature thelarche and precocious puberty Premature adrenarche: premature axillary/pubic hair development, acne and axillary body odour. Mild grwoth acceleration and BA maturation. DHEAS levels not appropriate for age but for hair stage, w/ normal sex hormones. Benign, does not affect growth BOYS: usually pathological c/f girls usually idiopathic. Large testes, GnRH dependent. u/l large testis, gonadal tumour. b/l small, adrenal tumour

Rickets

Normal amount of bone with reduced mineral content. Ricket's if occurs before epiphyseal fusion VITD VitD deficiency: malabsorption, poor diet, lack of sunlight Renal osteodystrophy Drug-induced: anticonvulsants induce liver enzymes which degrade vitD VitD resistance: inherited conditions - VDDR2 (AR receptor mutation, aka vitD resistant rickets. Sparse body hair/total alopecia. Present at birth/1st year of life. Rx supraphysiological calcitriol Liver disease VDDR1: AR 1A-hydroxylase deficiency, rickets within 2y. Rx calcitriol PO4 DEFICIENCY Tumour-induced osteomalacia: oncogenic hypophosphataemia. Tumour upregulates FGF-23 causing hyperphosphaturia, hypophosphataemia, myalgia and weakness Renal: XL, Fanconi, RTA, nephrotoxic drugs Rickets: growth retardation, hypotonia, apathy in infants. Once walkng, knock-kneed/bow-legged, deformity of physeal plate (rachitic rosary), wrist swelling, frontal cranial bossing, craniotabes. Symptoms of hypocalcaemia Osteomalacia: bone pain, tenderness, fractures (esp femoral neck), proximal myopathy (waddling gait) Low Ca/PO4/vitD. High ALP, PTH. VitD high in resistance Bone biopsy shows incomplete mineralisation, muscle biopsy normal XR: loss of cortical bone, partial #s of scapula, NOF, medial femoral shaft (Looser's zones). In ricket's, ragged metaphyseal surfaces Deficiency: VitD supplements Liver: ergocalciferol/cholicalciferol Kidney: alficalcidiol or calcitriol. Beware, can cause dangerous hypercalcaemia VitD resistant rickets: type I (low renal 1alpha hydroxylase activity), type II (receptor mutation). Treat with high dose calcitriol X-linked hypophosphataemic rickets: XLD defect in renal PO4 handling (PEX/PHEX mutation). Treat with high dose PO4 and calcitriol

Hypertension

Normal: systolic and diastolic <90th centile High normal: either between 90-95th HTN: either >95th Severe HTN either >99th Aetilogy: Essential (95%) Renal (CKD, RAS), most common in kids Endocrine (CAH, Conn's, Cushing's, phaeo, acromegaly, hyperparathyroidism) Others (Coarctation, pregnancy, drugs-liquorice, COC, steroids, MAOi, cocaine, amphetamines) Cuff width = 70% acromio-olecranon distance or 40% midarm circumference Cuff length: completely encircle arm Small cuff = falsely raised BP After 5min rest, sitting w/ arm at level of heart in children, supine in infants Doppler for infants Diastolic = 4th Korotkoff sound <12, 5th >12yo Infants: vomiting, rarely FTT, CCF/resp distress Children: headache, N+V, visual symptoms, irritable, Bell's palsy, epistaxis, growth failure, fits, altered consciousness In order of rapidity Nifedipine SL Na nitroprusside IVI Labetalol Hydralazine Phentolamine (for catecholamine excess Maintenance Bblocker (atenolol, propranolol) + vasodilator (nifedipine, hydralazine, prazosin, minoxidil). 2nd line diuretic (furosemide, spironolactone), 3rd line ACEi (captopril, enalapril)

OCD

OCD. Associated with marked anxiety and depression, Sydenham's chorea, Tourette's. In order of prevalence: checking, washing, contamination, doubting, bodily fears, counting, insistence on symmetry, aggressive thoughts. Obsessions/compulsions must cause distress/interfere with life. Average age 20yo sudden onset after stressful event Obsessions: recurrent persistent thoughts, images or impulses that are distressing Compulsions: mental or physical behaviours completed in an attempt to neutralise anxiety caused by obsessions Rituals/habits: 2/3 of schoolkids, not OCD - less frequent and intense, and do not cause distress or impact on functioning CBT: exposure and response prevention (ERP) Pharma: SSRIs first line, clomipramine 2nd line. Antipsychotics if tics, psychosis or schizotypal traits. Maintenance indefinite KIDS: CBT -> fluvoxamine or sertraline licensed If suicidal/severely incapacitated ECT NMD: stereotactic cingulotomy (65% success) DBS: experimental 1/3 improve significantly, moderately or chronic worsening HOARDING DISORDER persistent difficulties in discarding possessions regardless of value. starts st 11-15yo, interferes with functioning by 20yo, clinically significant impairment by 30yo. Rx CBT, SSRI

Cutaneous leishmaniasis

Obligate intramacrophage protozoa Leishmania spp, transmitted by female sandfly Incubation 2mo-1y, sandfly bite. >=1 painless brownish nodules, slowly enlarging into plaques/warty lesions (Old World) or boil-like erythematous nodules crusting centrally and ulcerating in 1-3mo (New World), present on nocturnally exposed skin. May be 3-6cm long, with satellite nodules around primary. Can spread along lymphatics (sporotrichoid spread) Skin punch biopsy: granulomas, if lucky Giemsa stain finds parasite (may be easier with smear), otherwise PCR and culture Serology generally useless Lesions heal in 3-18mo with depressed disfiguring scar. New World may develop mucosal disease. Rx Intralesional/IM/IV pentavalent antimony (sodium stibogluconate) mainstay

Examination of young children

Observe play, note gait, VA, hearing, speech, behaviour movements Examine skin,spine, HC Co-ordination: simple games. take this bread from my hand, pretend to open a door CNII, II, IV, VI: see if eyes fix and follow. Get them to fix on toy and move toy around, assess for squint. Get carer to stand behind and wiggle nose whilst examining fundi VII: watch facial movements VIII: cover mouth and say something, look for appropriate reaction IX/X: look for excessive dribbling, speech articulation XI/XII: children love to stick out tongue, shrug shoulders. If child can run, jump, hop, unlikely to have problems. If abnormality present do full neuro exam Baby VIII: response to ound VII: elicit smile IX, X: ask about/watch their swallow Test primitive grasp reflex, moro, parachute reflexes, head lag, pick up by armpits (if slip through hands hypotonia) Power and sensation impossible, but tone, reflexes (w/ thumb over), co-ordination (by reaching for toys) possible

Sleep apnoea

Obstructive, due to tonsilo-adenoidal hypertrophy, macroglossia or micrognathia Snoring, sleep disturbance, daytime somnolence/inattention, enuresis. OM/chronic effusion, mouth breathing (dry mouth, cracked lips) in adenoidal hypertrophy Overnight pulse oximetry, polysomnography CXR + ECG: 2ndary right heart cardiac complications Tonsillectomy: any of - airway obstruction, >7 tonsillitis in 1y or >10 in 2, two episodes of peritonsillar abscess Adenoidectomy: any of - airway obstruction, recurrent/chronic OM, recurrent/chronic nasopharyngitis, chronic mouth breathing

Chronic tension-type headache

Often frontal, regular, no other symptoms. Time off school, stressor I can't take away the headache, but the more normal things you do and the fewer drugs you take, the less you will notice the pain

Constrictive pericarditis

Often idiopathic, TB or after any pericarditis RVF, prominent x + y descents, Kussmaul's sign Soft diffuse apex beat w/ soft heart sounds, S3, diastolic pericardial knock CXR: small heart, pericardial calcification CT/MRI/echo/catheterisation to distinguish from restrictive cardiomyopathy surgical excision required (pericardiectomy)

Osteochondritis capitellum

Older children w/ elbow overload (overhand throwing/batting), with valgus accentuation Mechanical block, flexion contracture, lateral elbow pain and swelling APXR w/ elbow flexed at 45deg shows irregular joint surface Rest, avoid exacerbating activity, NSAIDs, arthroscopic removal of loose bodies Osteochondritis radial head: similar, but radial head

RF

Pharyngeal infection with Lancefield group A B-haemolytic strep, molecular mimicry with cell wall Revised Jones criteria Evidence of strep (+ve throat culture, rapid antigen test, ASO/DNAse B titre, recent scarlet fever) Major criteria Carditis (regurg, Carey Coombs, conduction defects, CCF, pericarditis) Arthritis (migratory, 'flitting' large joint polyarthritis) Erythema marginatum (trunk, thighs, arms) Subcutaneous nodules (small, mobile, painless nodules on extensor surfaces of joints/spine) Sydenham's chorea (preceded by emotional lability/uncharacteristic behaviour) Minor criteria Fever, raised ESR/CRP, Arthralgia, prolonged PR, Hx of RF, leukocytosis Need Evidence of strep + 2/5 major OR 1/5 major + 2/7 minor FBC, ESR, CRP, ECG, throat cultures, RAT, OSA/DNAse B titres CXR, blood cultures, echo non-pharma: bed rest until CRP normal for 2 weeks Immobilise affected joints (arthritis) pharma: Benzylpenicillin IV STAT, then phenoxymethylpenicillin QDS PO 10d Analgesia (high dose aspirin - beware salycilate toxicity, NSAID alternative) Prednisolone for carditis Haloperidol or diazepam for chorea Penicillin v for prophylaxis (5y if no carditis, 10y if carditis, >= age 40 if persistent valvular disease)

PKU

Phenylketonuria (PKU) is an autosomal recessive condition caused by a disorder of phenylalanine metabolism. This is usually due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine. In a small number of cases the underlying defect is a deficiency of the tetrahydrobiopterin-deficient cofactor, e.g. secondary to defective dihydrobiopterin reductase. High levels of phenylalanine lead to problems such as learning difficulties and seizures. The gene for phenylalanine hydroxylase is located on chromosome 12. The incidence of PKU is around 1 in 10,000 live births. Features usually presents by 6 months e.g. with developmental delay child classically has fair hair and blue eyes learning difficulties seizures, typically infantile spasms eczema 'musty' odour to urine and sweat* Diagnosis Guthrie test: the 'heel-prick' test done at 5-9 days of life - also looks for other biochemical disorders such as hypothyroidism hyperphenylalaninaemia phenylpyruvic acid in urine Management poor evidence base to suggest strict diet prevents learning disabilities dietary restrictions are however important during pregnancy as genetically normal fetuses may be affected by high maternal phenylalanine levels *secondary to phenylacetate, a phenylketone

Phimosis

Physiological phimosis exists at birth due to adhesions between foreskin and glans, which are gradually separated by erections + smegma. <1% persist into adulthood Ballooning of foreskin on voiding, inability to retract foreskin causing skin trauma during sex. May have recurrent balanitis, UTIs, balanoposthisis or BXO Can cause paraphimosis if forcefully retracted Adults: circumcision. Can try preputioplasty, but 50% will go on to circumcision, and CI in BXO Avoid circumcision in children unless >2yo with BXO or recurrent UTIs. Treat balanitis with Abx + betamethasone cream BXO: lichen sclerosis on penis. Phimosis, itching, flat-topped white papules that coalesce. Can cause voiding dysunction through meatal stenosis/urethral strictures, and can fuse glans to prepuce through adhesions. Hyperkeratosis of epithelium with hyalinization of keratin and degeneration of basal layer and WC infiltration. Treat with circumcision (topical steroid can be tried). Predisposes to penile SCC

Child abuse orders

Police protection order: by police, 72h Emergency protection order: social services, 8d + one off 7d extension Child assessment order: rarely used, by local authority, 7d. Implemented if not emergency but parents uncooperative Interim care order: by local authority or NSPCC, max 8w, gives PResp to local authority Supervision orders: by social services/NSPCC, 12mo in first instance

Total anomalous pulmonary venous connection

Pulmonary veins join SVC or IVC, leading all venous return to right atrium. Requires PFO/ASD for survival First few days of life w/ cyanosis, CCF. Surgical emergency CXR - if connected to SVC, snowman sign Rx anastamosis of common pulmonary channel to LA, ASD closure and interruption of systemic anastamosis

Photosensitivity

Polymorphic light eruption (PLE): commonest. "sun allergy" affecting 15% F caucasians. Itchy/burning rash 2h (can be longer) post-UV exposure. Fades in 1-6d, no scar. Rash - erythematous papules, plaques, vesicles, rarely haemorrhagic blisters (v polymorphic). Typically noticed on holiday, can be triggered by UVA (goes through glass), face and hands (chronically exposed) spared - rash gets better with continuous sunlight exposure Rx potent topical steroids for acute eruptions (can be PO for short time eg holiday). Graduated UVB exposure to induce tolerance, continuous exposure to maintain - OR protective clothing, high factor sunscreen. Hydroxychloroquine sometimes useful UNCOMMON Juvenile spring eruption: boys in spring/summer, itchy uncomfortable papules and vesicles on exposed helices of ears, resolving in 1-2w Solar urticaria Chronic actinic dermatitis: elderly men w/ multiple contact allergies. Potent immunosuppression needed RARE Actinic prurigo: childhood mexican/native american. Itchy papule -> chronic nodules/plaques. Often solar cheilitis of lower lip and conjunctivitis. Leaves pitted or linear scars. Resolves in early adulthood Hydroa vacciniforme: boys. Tender erythematous papules within mins of exposure -> haemorrhagic vesicles -> crust and heal, leaving chickenpox-like scars. Associated w/ EBV, resolves in early adulthood Brachioradial pruritus: stinging/burning pain in skin of forearms, no rash

Sturge-Weber syndrome

Port wine stain in V1+/-V2/3 with clinical/radiological evidence of leptomeningeal vascular malformation 75% have seizures by 1yo, early management avoids extra brain injury. Some have severe cognitive and neurological deficits independent of seizures. Screen for glaucoma, EEG/MRI to establish diagnosis Manage seizures, treat PWS with pulsed dye laser

Other genetics

Prader-Willi syndrome: 75% paternal deletion, 25% maternal uniparent disomy (mUPD). Massive hyperphagia w/ marked obesity. Neonatal - hypotonia, sleepiness, narrow BFD, triangular mouth (feeding difficulties). Childhood: short stature, hypogenitalism, self-injurous behaviour, LD, speech abnormalities, sleep disorders. Small hands/feet, cleft palate, almond shaped eyes, strabismus, talipes dorsalis, DDH, knee/ankle/spine (scoliosis) abnormaities. Have GI, CVS, resp (asthma), renal calculi, hearing deficits, hypothermia Angelman ("happy puppet") syndrome: 80% maternal deletion, 2% pUPD, 18% direct mutation. Ataxia, epilepsy, paroxysms of laughter, absence of speech, severe LD, behavioural issues (hand flapping, tongue thrusting, mouth movements), URTIs, ear infections, obesity. Blonde hair, blue eyes, microcephaly, flat occiput, long face, prominent jaw, wide mouth + widely spaced teeth, thin upper lip, mid-facial hypoplasia B-thalassaemia mental retardation: deletion causing LD Cri du Chat: Partial monosomy (loss of 5p). Cat-like cry, microcephaly, rounded face, hypertelorism, micrognathia, dental malocclusion, epicanthic folds, low-set ears, hypotonia, severe LD DiGeorge (Velocardiofacial) syndrome: microdeletion. 50% LD, cardiac issues (ToF, VSD, interrupted aortic arch, pulmonary atresia, TA). Microcephaly, cleft palate/submucous cleft, small mouth, long face, prominent tubular nose, adenoid hypoplasia - nasal speech, bulbous nasal tip, narrow palpebral fissure, minor ear abnormalities, small discs + tortuous retinal vessels + cataracts. Hypocalcaemia (seizures, renal/hearing problms, inguinal/umbilical hernia), hypospadias, long thin hands w/ hyperextensible fingers, associated with schizo, blunt affect Rubenstein-Taybi syndrome: microdeletion. LD + dysgenesis of corpus callosum. broad thumbs + great toes, persistent foetal finger pads, face (short upper lip, pouting lower lip, maxillary hypoplasia, beaked nose,slanted palpebral fissure, long eyelashes, ptosis, epicanthic fold, strabismus, glaucoma, iris coloboma), CVS (PS, PHTN, MR, PDA), keloid formation, GU (hypoplastic kidneys, cryptorchidism, shawl scrotum), GI (constipation, megacolon), collapsable larynx (OSA), epilepsy (25%), sleep problems, stereotypies (rocking, self-injurous behaviour) Smith-Magenis syndrome: deletion. LD, face (brachycephaly, broad face, flattened midface, strabismus), myopia, short broad hands, upper limb deformity, insensitivity to pain, behaviour (self-hugging posturing, aggression, self injury, hyperactivity, severe sleep problems) William's syndrome: c7 deletion, may be related to escess aternal vit D intake. Transient neonatal hypercalcaemia, supravalvular aortic stenosis, elfin facies. Neonates- irritable, feeding problems, failure to thrive. Child - growth retardation, hoarse voice, premature wrinkling/sagging of skin, CVS (AS, pulmonary artery stenosis), GU (asymmetrical kidneys, nephrocalcinosis, bladder diverticuli, urethral stenosis), LD, abnormal attachment (either anxiety/poor relationships/hypersensitivity or poor social inhibition/excessive friendliness). Wolf-Hirschhorn syndrome: 4p monosomy, severe LD

AKI

Pre-renal Low vascular volume: haemorrhage, D+V, burns, pancreatitis Low CO: cardiogenic shock, MI Systemic vasodilation: sepsis, drugs Renal vasoconstriction: NSAID, ACEi, ARB, hepatorenal syndrome Renal Glomerular: glomerulonephritis, ATN Interstitial: drug reaction, infection, infiltration (eg sarcoidosis) Vessels: vasculitis, HUS, TTP, DIC Post-renal Renal tract: stone, renal tract malignancy, stricture, clot Extrinsic: pelvic malignancy, prostatic hypertrophy, retroperitoneal fibrosis AKI: rise in creatinine >26 within 48h OR >1.5x within 7d OR UO<0.5ml/kg/h for >6h KDIGO Stage 1: rise in creatinine >26.5 or 1.5-1.9x, UO<0.5 for 6-12h Stage 2: rise in creatinine 2-2.9x, UO<0.5 for >12h Stage 3: rise in creatinine >353.6 or >3x, UO<0.3 for >24h or anuria for >12h Choose whichever gives highest stage Look for life-threatening complications: obs (consider ITU), pulmonary oedema (refer to renal for dialysis), hyperkalaemia (treat if >6.5 or ECG changes) Check HR,BP,JVP,CRT, palpate for bladder. If hypovolaemic, give 250-500ml fluid boli until replete. If >2L given without response, seek help Monitor: catheterise and hourly UO. Daily K and 4 hourly obs. Lactate if septic. Daily creatinine (lags 24h behind clinical response) Investigate: pre-catheter dipstick, quantify any proteinuria (haematuria+proteinuria = intrinsic AKI, get immunoglobulins, paraprotein, complement, ANCA, ANA, anti-GBM). USS within 24h (post-renal AKI. If small kidneys, CKD, if asymmetrical RAS). LFTs (hepatorenal syndrome). Platelets, if low get blood film for haemolysis (HUS, TTP) Manage: Treat sepsis, stop nephrotoxics (inc contrast) and drugs that increase complication risk (diuretics, metformin, antihypertensives), modify dosages according to eGFR, consider gastroprotection and nutritional support Refer to renal team if AKI is: refractory, complicated (hyperkalaemia, acidosis, fluid overload), stage 3, difficult fluid balance (hypoalbuminaemia, CHF, pregnancy), intrinsic renal disease, HTN RRT if: refractory fluid overload, severe/prolonged acidosis, recurrent/refractory/persistent hyperkalaemia, uraemia

Other genital issues

Priapism: persistent painful erection. Most commonly trauma, occasionally presentation of acute leukaemia or SCD. Rx conservative unless SCD Imperforate hymen: first few days of life w/ lower abdo mass, sometimes urinary retention. IU stimulation of infant cervical glands by maternal oestrogens causes accumulation (mucocolpos). Imperforate hymen seen bulging through introitus. Occasionally not detected in newborn period, presents at puberty w/ primary amenorrhoea/painful lower abdo mass from haematocolpos. Rx incise hymen. Labial adhesions: common in female toddlers. Nappy rash + urine irritation cuase chronic labial irritation and adherence. Invariably small opening for urine to escape. Asymptomatic. Defer Rx until out of nappies, then topical oestrogen cream for 2w separates most adhesions (occasionally seperation under anaesthetic needed)

Addison's

Primary Adrenal destruction causes glucocorticoid and mineralocorticoid deficiencies Autoimmunity: 80% in UK TB: commonest worldwide Adrenal mets: lung, breast, renal Lymphoma Opportunistic AIDS infections: CMV, Mycobacterium avium intracellulare Adrenal haemorrhage: Waterhouse-Freidrichsen syndrome, APLS, SLE Congenital: late-onset congenital adrenal hyperplasia Secondary Iatrogenic: long-term steroid therapy. NEVER abruptly stop long-term steroids, especially in illness Hypothalamic-pituitary disease: no hyperpigmentation (low ACTH) Lean, tanned, tired, tearful, weakness, anorexia, dizzy, faints, flu-like myalgias/arthralgias Mood: depression, psychosis GI: N+V, abdo pain, diarrhoea, constipation, salt-craving Pigmented palmar creases and buccal mucosa, postural hypotension, vitiligo Critical deterioration: shock, fever, coma Reduced pubic/axillary hair low Na, high K, low glucose (cortisol def). Also uraemia, high Ca, eosinophilia, anaemia SynACTHen test: tetracosactide IM, measure cortisol at 0 and 30min 9am total serum cortisol: may be falsely normal in pregnancy or OCP due to increased cortisol-binding globulin. >500nmol/L normal, <100 definitely abnormal, 100-500 requires SynACTHen test serum renin/aldosterone ACTH: measured at 9am. High in primary, low in secondary 21-hydroxylase adrenal auto-Ab: >80% +ve in autoimmune disease AXR/CXR to check for previous/current TB, adrenal calcification Adrenal CT if cause unclear, may be mets Acute is emergency - see algorithm Replacement: hydrocortisone PO modify doses based on stress, exercise, illness. IM in case of vomiting. Also fludrocortisone for postural hypotension and electrolyte abnormalities. If poor response, look for associated thyroid or coeliac disease Yearly f/u for BP,U+E and check for autoimmune diseases

VUR

Primary Anatomical defect: shortened intramural urethra Duplex ureters: Weigert-Meyer law Secondary BOO: high bladder pressures Iatrogenic: ureteric implantation w/o antireflux mechanism, ureteric meatotomy for VUJ stone Inflammation of VUJ: TB, schistosomiasis, UTI retrograde flow of urine from bladder into upper urinary tract. Intramural ureter usually prevents this. Childhood VUR tends to resolve as intramural ureter lengthens. VUR+UTI = renal scarring Loin pain (associated with full bladder or after micturition), recurrent UTIs/pyelonephritis, reflux nephropathy (usually children. May also be asymptomatic incidental finding) Voiding cysto(urethro)graphy to diagnose I: contrast in ureter II: contrast in pelvis III: mild dilation IV: moderate dilation V: severe dilation, tortuous Can also do indirect cystogram w/ MAG3 or DTPA Primary VUR - Rx to prevent renal scarring Recurrent UTIs: treat, if frequent give prophylaxis. If regularly progress to pyelonephritis, ureteric reimplantation If severe recurrent loin pain or renal deterioration, ureteric implantation If kidney non-functional with recurrent UTIs, nephroureterectomy Consider endoscopic bulking agent injection at ureteric orifice or STING procedure

Hyperaldosteronism

Primary Conn's syndrome (2/3): solitary aldosterone producing adenoma. Bilateral adrenocortical hyperplasia (1/3) Adrenal carcinoma Glucocorticoid-remediable aldosteronism (GRA): ACTH regulatory region from 11beta-hydroxylase fuses to aldosterone synthase, bringing aldosterone synthesis under control of ACTH Secondary: reduced renal perfusion causing excessive renin secretion. RAS, malignant HTN, diuretics, CHF, hepatic failure Often asymptomatic, may have signs of hypokalaemia, weakness (even quadriparesis), cramps, paraesthesia, polyuria, polydipsia, HTN U+E (20% normokalaemic), renin (low in primary, high in secondary), aldosterone MRI/CT adrenals if hyperaldosteronism confirmed. If mass found, adrenal vein sampling to confirm Genetic testing for GRA Conn's: laproscopic adrenalectomy, with 4w pre-op spironolactone Hyperplasia: medically managed with spironolactone, amiloride GRA: dexamethasone PO 4w normalises biochem, sometimes BP. If BP refractory, give spironolactone Adrenal carcinoma: surgery+post-op adrenolytic therapy (mitotane), poor prognosis

Osteosarcoma

Primary: arises in metaphyses of long bones, esp around knee Secondary: due to Paget's or irradiation Classically presents between 10-20yo with peak in adolescent growth spurts. Non-mechanical bone pain, night pain, then swelling and pathological fractures Plain XR: shows bone destruction and new bone formation (sunray spiculation) with marked periosteal elevation (Codman's triangle) MRI to stage, HRCT to check pulmonary mets (most common, followed by other bones) Biopsy: definitive diagnosis Wide surgical resection and reconstruction (can have massive bone prosthesis!), with neoadjuvant chemo. 5y survival 60-70%

Hypoparathyroidism

Primary: autoimmune, congenital (DiGeorge's syndrome) Secondary: radiation, surgery - (para)thyroidectomy, hypomagnesaemia (required for PTH secretion Symptoms/signs of hypocalcaemia Low Ca, high or normal PO4, normal ALP Treat with Ca+calcitriol. Synthetic PTH SC prevents hypercalciuria

Liver Tx

Prioritisation based on UKELD score (Na, creatinine, bilirubin, INR). CI: extrahepatic malignancy, severe cardioresp disease, systemic sepsis, expected non-compliance with drug therapy, ongoing alcohol consumption (if alcohol-related liver disease) post op 12-48h on ITU. Start on enteral feeding ASAP, monitor LFTs. Pred+tacrolimus+/-MMF/azothioprine Hyperacute rejection: ABO incompatibility Acute rejection: T-cell mediated, 5-10d. Malaise, pyrexia, tender hepatomegaly. Treat with enhanced immunosuppression Chronic rejection: 6-9mo Other: sepsis (gram -ve, CMV), hepatic artery thrombosis, GVHD (v. rare) 1y 90% 5y 80%

Scarlet fever

Prodrome: erythrogenic toxin-producing GAS infection (droplet spread) of 2-6yo w/ 2-5d incubation during which child has fever, N+V, malaise, headache, abdo pain Exanthematous phase: blanching, sandpaper-like body rash (Neck and chest, fine punctate 'pinhead' appearance) spreading to flexor creases, strawberry tongue, and circumoral pallor. Pharynx oedematous with exudative tonsilitis, palatal petichiae and uvual oedema, tender anterior cervical lymphadenopathy Complications: OM (most common), RF (20d post-infection), acute glomerulonephritis (10d post-infection), dissemination (rare but life threatening) Throat swab, ASO, DNaseB Penicillin V 10d (azithromycin if allergic) prevents RF but not glomerulonephritis, reduces length of illness. Should be started within 9d of acute illness (do not wait for results). Isolate until 24h after Abx start NOTIFIABLE

Hodgkin's lymphoma

Proliferation of lymphocytes with characteristic Reed-Sternberg cells. Most common in young adults and elderly. Associated with EBV and SLE Nodular sclerosing>mixed cellularity>lymphocyte rich>lymphocyte depleted (poor prognosis) Presents with enlarged, non-tender rubbery superficial lymph nodes (usually cervical). 25% have constitutional symptoms: fever, weight loss, night sweats pruritus, lethargy. Mediatinal spread can cause SVCO (emergency) or pleural effusions. Alcohol may induce lymph node pain. Hepatoplenomegaly may be present FBC, film, LFT, ESR, LDH, urate, Ca Lymph node excision biopsy for diagnosis CXR, CT/PET abdo,chest,pelvis Ann Arbor staging I: single lymph node II: 2 or more, but one side of diaphragm III: both sides of diaphragm VI: spread beyond lymph nodes (BM, liver, etc) suffix: a (no b symptoms), b (b symptoms), e (localised extranodal disease) Ia-IIa: radio and short courses of chemo IIa(>3)-IVb: long course chemo Chemo is ABVD: Adriamycin (doxorubicin), Bleomycin, Vinblastine, Dacarbazine. cures 80% SCT: for refractory/relapsed disease

Entamoeba histolytica

Protozoa. Cysts found in water (faeco-oral). Trophozoites (w/ engulfed RBCs in cytosol) or cysts with up to 4 nuclei in stool Amebiasis: Asymptomatic in 90% (luminal amoebiasis) Intestinal amoebiasis: insidious onset/relapsing bloody diarrhoea, abdo pain, colitis, appendicitis, toxic megacolon. Amoebomas may cause obstruction Extra-intestinal/invasive amoebiasis: single amoebic liver abscess containing 'anchovy-sauce' pus, swinging fever, RUQ pain/tenderness. 50% have no dysentery. Can also present with peritonitis (colon rupture), pleuropulmonary abscess, cutaneous/genital lesions LFTs normal or cholestatic. Microscopy of stool, aspirate or biopsy, enzyme immunoassay. PCR distinguishes from harmless E. dispar Metronidazole, tinidazole for dysentry or invasive. Diloxanide furoate 10d for all (even asymptomatic) to kill cysts in lumen. Drain abscesses dysentery, liver abscess with 'anchovy paste' exudate, RUQ pain, colon biopsy shows flask-shaped ulcers

Giardia lamblia

Protozoa. Cysts found in water. Multinucleated trophozoites or cysts may be found in stool. faeco-oral transmission Giardiasis Majority asymptomatic. Incubation 1-3w, then diarrhoea, flatulence, bloating, abdo pain, malabsorption, lasting 2-6w (most common cause of persistent traveller's diarrhoea) Diagnosis by stool microscopy (>=3 samples due to intermittent shedding), faecal immunoassay, PCR, duodenal fluid aspirate analysis Metronidazole, tinidazole or albendazole to treat Lactose intolerance is a common complication

Malaria

Protozoa. Transmitted by Anopheles mosquito. Blood smear shows throphozoite ring in RBCs, schizonts containing merozoites. With P. vivax/ovale, red granules (Schuffner stippling) seen throughout RBC cytosol Sporozoites in salivary gland of Anopheles mosquito leaks through proboscis into bloodstream, migrating to hepatocytes. These replicate into merozoites crammed into a hepatic schizont (shizogony). Vivax/ovale form hypnozoites (dormant form) in liver, leading to long incubation periods and relapse. Once merozoites released into blood, invade RBCs, gradually becoming trophozoites: ring form -> band form -> erythrocytic shizont crammed with merozoites which are then released. Some merozoites -> m/f gametocytes, remain in RBC. RBCS go to mosquito's stomach and combine to form zygote -> ookinete -> oocyst which ruptures, releasing thousands of sporozoites which migrate to salivary glands Malaria: causes fever, headache, malaise, myalgia, diarrhoea, vomiting, cough. In advanced disease, splenomegaly, jaundice, anaemia, cerebral malaria P vivax/ovale: 48h cycle, hypnozoites in liver. Vivax most prevalent outside Sub-Saharan Africa. Ovale Africa only. Vivax binds RBC duffy antigen for entry, which is not present in sickle cell disease P. falciparum: severe, irregular fever patterns, parasitised RBCs occlude capillaries in brain (cerebral malaria), kidney, lungs. Most prevalent in subsaharan Africa P. malariae: 72h cycle P. knowlesi: 24h cycle. Only SE Asia In pregnancy: miscarriage, stillbirth, congenital malaria, low birth weight/preterm delivery. Admit to hospital, quinine + clindamycin (IV artesunate if severe), antipyretics, screen for anaemia. Proguanil and chloroquine safest prophylaxis in pregnancy Diagnose with thick and thin blood smear, RDT for malarial Ag can be used as primary screening, but not as good as microscopy. Results take 4h, if -ve repeat after 12-24h, again after 24h (3 total). % parasitaemia needed for falciparum/knowlesi (>2% worse prognosis, >10% severe disease). Notifiable, slides + blood aliquot must be sent to malaria reference laboratory FBC (anaemia, thrombocytopenia), U+Es (AKI), clotting (DIC) glucose (hypoglycaemia), ABG (acidosis), urinalysis (haemoglobinuria) Falciparum severe criteria: impaired conciousness/seizures (cerebral malaria), AKI (<0.4mL/Kg/h output, creatinine>265), Shock (BP<90/60, Algid malaria), Hypoglycaemia (<2.2), Pulmonary oedema/ARDS, Hb<80, spontaneous bleeding/DIC, acidosis (pH<7.3), haemoglobinuria, Parasitaemia >10% uncomplicated falciparum: Artemisinin combination therapies (ACT). Artemether-lumefantrine 4T at 0,4,8,24,36,48,60h. Take w/ high fat diet to increase absorption. Dihydroartemisinin-piperaquine is 2nd line (4T OD 3d). Take >3h away from meals to avoid peaks, can cause QT prolongation. If ACT not available, Atovaquone-proguanil (4T OD 3d, GI upset) or quinine+doxi 7d (beware cinchonism) Severe falciparum: EMERGENCY! IV artesunate (0,12,24h, OD 5d) followed by full ACT course once can tolerate PO. If not available, quinine IV TDS 2d or until Pt can tolerate PO, followed by quinine+dox regimen (SE cinchonism, hyperinsulinaemia. Monitor BM every 2-4h, Hb, clotting, U+Es, daily parasite counts (can fluctuate due to lifecycle) Non-falciparum: If severe, treat as severe falciparum, if falciparum cannot be excluded treat as uncomplicated falciparum. 1st line - ACT regimes (as in falciparum), but chloroquine can be used as second liune (p. vivax can be resistant). Treat all vivax and ovale with primaquine OD 14d (beware haemolysis w/ G6PD defiiency) Prophylaxis: destroy mosquito breeding sites, nets, sprays, sterile male mosquito release. For travellers - bite prevention advice (DEET + high SPF), chemoprophylaxis: Chloroquine (SE: GI disturbance, headache, CI epilepsy) or Proguanil (antifolate, SE diarrhoea) If chloroquine resistance present, Chloroquine+Proguanil If endemic chloroquine resistant P. falciparum, Mefloquin (SE: neuropsychiatric, dizziness), Dox, Atovaquone-proguanil.

Takayasu's arteritis

Pulseless disease. Rare granulomatous panarteritis affecting aorta and large arteries in adolescent Japanese girls/young women Subclinical prepulseless phase: anorexia, fatigue, poor growth, unexplained fevers, episodic arthritis. May last years Pulseless phase: diminished peripheral pulses, aortic dilation, HTN/RAS. May have dramatic presentation w/ severe hypertensive encephalopathy and seizures, CCF, aortic valvulitis, AR, PS. May also have syncope due to paroxysmal HTN or tachycardias (facial flushing, headaches, chest pain, SOB, palpitations) triggered by posture changes/micturition ESR+gamma globulins highly elevated in prepulseless phase Carotid USS, (MR) angiography to diagnose BBlockers and ACEi for HTN (vasodilators CI) Vasculitis: high dose pred, MTX/AZA as steroid sparing. Cyclophosphamide if severe/resistant Surgery: angioplasty/bypass grafting

Autoimmune haemolytic anaemia

RBCs bound by Ab and destroyed in reticuloendothelial system (splenomegaly) Isoimmune: Rh disease, ABO incompatibility, other blood groups Warm AIHA: IgG-mediated, Abs bind at 37deg. Treat with steroids, rituximab or splenectomy Causes: Mostly idiopathic. CLL, lymphoma, drugs (penicillin), autoimmune disease (eg SLE) Cold AIHA: IgM-mediated, Abs bind at 4deg. Causes a chronic anaemia made worse by cold, with Raynaud's or acrocyanosis. DCT +ve for C3, -ve for IgG. Treat by keeping warm, chlorambucil Causes: Idiopathic, Mycoplasma pneumoniae, EBV

Depression

RF: FHx, childhood (parental loss/alcoholism, sexual abuse), personality (anxiety, impulsivity, obsessionality - high neuroticism), social (divorce, unemployment, loss), organic illness (parkinsons, MS, MI). Intelligence and marriage protective Typical triad: Depressed mood, anhedonia, fatigue. In elderly can present as pseudodementia (may have islands of normality, with excessive apathy to easy cognitive tests) Somatic: Loss of emotional reactivity, diurnal mood variation (worst in morning, then improving), sleep (early wakening, insomnia, hypersomnia), psychomotor agitation/retardation (loss of conc), loss of appetite/weight, loss of libido Psychotic Delusions: poverty, personal inadequacy, guilt over presumed misdeeds, responsibility for world events, deserving of punishment Hallucinations: auditory (defamatory/accusatory voices, cries for help), olfactory (bad smells), visual (tormentors, demons, devil, dead bodies, scenes of death and torture) Catatonia: depressive stupor ICD-10 Mild: 2 typical + 2 somatic Moderate: 2 typical + >=3 somatic Severe: 3 typical + >=4 somatic Non-melancholic: no somatic or psychotic symptoms. can be irritable/hostile depression with aggression, acting out, DSH (generally younger), OR anxious depression - highly anxious and withdrawn, may have substance misuse, frequent DSH/suicide attempts, respond well to SSRI Melancholic: somatic symptoms (but no psychotic). Usually have psychomotor signs. Better SSRI response With psychotic symptoms: usually v. severe non-reactive depression with near catatonic psychomotor disturbance and psychotic symptoms. Often have constipation with delusion of bowels being sewn up Episodes last 4-30w for mild/moderate and ~6mo for severe. Recurrence common but shorter In pregnancy, most suicides between 6-12w postpartum Ratings: Hamilton depression rating scale (HAM-D), Beck depression inventory (BDI) FBC, U+E, LFT, ESR, haematinics, TFT, glucose, Ca MIld (CAMHS tier 1-2): Start with CBT/talking therapies (CAMHS tier 2-4). Only antidepressants if long insidious Hx Moderate/severe: antidepressants + IPT. review every 1-4w until established (suicide risk increased in early stages, due to psychomotor restrictions on suicide being lifted). adequate trial=4w at max dose. If partially respond, may benefit from addition of lithium (or tryptophan/T3). Continue effective dose/Rx for 6mo-1y before gradual discontinuation (although if pt wants, can stay on it indefinitely). If severe and recurrent, maintain for at least 5y/indefinitely ECT: first line for severe biological features (eg marked weight loss or psychomotor retardation), hish risk of harm to self or others, psychotic features, refractory disease ADMIT if significant risk of harm to self, others, self neglect (esp weight loss) or severe depressive/psychotic symptoms Depression with psychotic symptoms: ECT first line (although practical concerns mean usually 2nd). Start antipsychotic, then a few days later antidepressant (sometimes antipsychotic enough, and antidepressants can worsen untreated psychosis) - commonly olanzapine-fluoxetine (Symbyax). If ECT resolves, maintain on antidepressants. If dual therapy resolves, mainatain same but lowest effective dose of antipsychotic. Maintenance indefinite KIDS mild, <4w: psychoeducation, supportive (sleep hygiene, nutrition, activity, exercise). If no response after 2-3mo, refer to CAMHS tier 2/3 for CBT/IPT Moderate-severe: CBT, IPT, FT. Only consider antidepressants after this. Fluoxetine is the only one licensed (may increase suicide risk), TCAs don't work f/u 1y after remission Review 12w after each new Rx

Bell's palsy

RF: pregnancy, DM Sudden onset (typically after sleep) complete unilateral facial weakness peaking at 24-72h. Ipsilateral ear numbness/pain, ageusia, hyperacusis, unable to whistle or wrinkle forehead (LMN lesion) Exclude other causes: glucose, ESR, borrelia/VZV serology, CT/MRI for SOLs/stroke/MS 10d prednisolone within 72h of onset Eye protection: dark glasses, hypromellose (artificial tears), regular manual eyelid closure, tape down eyes at night, surgery if refractory lagopthalmos or severe ectropion Incomplete paralysis recovers completely within a few weeks Complete paralysis: 80% have no axonal degeneration (full spontaneous recovery), 15% have axonal degeneration - recovery starts at 3mo, can be complicated by abnormal connections of somatic (synkinesis - eg. blinking causes upturning of mouth) and parasympathetic (crocodile tears/gustolacrimal reflex - eating stimulates unilateral lacrimation instead of salivation) Children: if no recovery after 6mo, refer for facial n grafting

Otitis externa

RF: swimmers/surfers, daily hairwashers, DM, psoriasis Mild: EAC has scaly skin + erythema Moderate: painful discharging (creamy cheese-like) smelly ears, narrow EAC but TM n Severe: complete occlusion of EAC or spreading pinna cellulitis Look for furuncles, granulations, VII function Keep ears dry, no swimming Mild OE: use steroid cream (betamethasone/hydrocortisone) or EarCalm (acetic acid, lowers pH). Regular aural toilet Moderate OE: microsuction clearance, hygroscopic drops (aluminium acetate), swab for microscopy, otowick for narrowness (change in 48h). If swab +ve Abx Severe OE: as moderate, treat cellulitis. If furuncle found may be cause - lance with fine end of sucker with Abx cover

Rhabdomyosarcoma

RMS, most common soft tissue sarcoma of childhood. <10yo Mass, pain and obstruction of: bladder, pelvis, nasopharynx, parameningeal, paratestis (best prognosis, resectable), extremity, orbit, intrathoracic. LN involvement common, distant mets rare Biopsy: characterised by t(2;13) or t(1;13) Chemo, then surgery if accessible, then RT if residual. Alveolar histology = poor prognosis

Aplastic anaemia

Rare disorder where BM stem cells stop producing new cells. Usually autoimmune, triggered by drugs (chemo), viruses (parvovirus, hepatitis) or irradiation. Can be inherited (Fanconi anaemia) Presents with pancytopenia (anaemia, bleeding and infections). BM biopsy diagnostic (aplasia, marrow cellularity <25%) Transfusions as required, neuropenic regimen if neut<0.5. No role for G-CSF. Immunosuppression with ciclosporin + anti-thymocyte globulin may play a role, but SCT only curative treatment

Wilson's

Rare inherited disorder of copper excretion, causing deposition in liver and CNS. AR mutation in ATP7B, a Cu transporting ATPase. Prevents incorporation of Cu into caeruloplasmin and excretion in bile, causing accumulation in liver, then other organs Children present with liver disease: hepatitis, cirrhosis, fulminant liver failure Young adults start with CNS signs: tremor, dysarthria, dysphagia, dyskinesias, dystonias, dementia, Parkinsonism, ataxia/clumsiness, mood changes (depression/mania, labile emotions, labile libido, personality change), cognition (low memory, slow to solve problems, reduced IQ, delusions, mutism), KF rings in iris Other signs: haemolysis, blue lunulae, arthritis, hypermobile joints, grey skin, Fanconi syndrome LFTs are high (ALT<1500) 24h urinary Cu is high, Serum Cu low, serum caeruloplasmin low Slit lamp exam shows KF rings in Descemet's membrane Liver biopsy: increased hepatic copper, hepatitis, cirrhosis MRI: degeneration of basal ganglia, fronto-temporal lobes, cerebellum, brainstem Genetic testing: confirms diagnosis Avoid foods with high Cu (liver, chocolate, nuts, legumes, mushroom, shellfish). Check water sources for copper Pharma: lifelong penicillamine. Monitor FBC , urinary Cu and protein excretion Liver Tx for severe liver disease Screen and treat siblings prophylactically pre-cirrhotic liver disease reversible, CNS disease less so

PUD

Rare, typically duodenal ulcers RF: H. pylori, drugs (NSAIDs, steroids, SSRIs), increased gastric acid secretion, gastric emptying, blood group O, smoking Consider Zollinger ellison syndrome (measure gastrin) Often asymptomatic. Chronic abdo/epigastric pain, n+/-v, GI haemorrhage, FTT, anorexia, IDA, v. rarely perforation C14 urea breath test (H. pylori) Endoscopy + biopsy Quadruple therapy (if H. pylori): 7-10d PO amox (clari if allergic), bismuth, metronidazole, omeprazole Otherwise PPI, H2 antagonists, sucralfate, antacids

Strabismus

Recti: annulus of Zinn SO: sphenoid IO: orbital floor Obliques inferior to recti Spiral of Tillaux: MR>IR>LR>SR each more posterior insertion. Each muscle supplied by anterior ciliary aa. All within Tenon's capsule Herring law: c/l muscles sent equal and simultaneous innervation during version Sherrington's law: innervation of agonist accompanied by reduced innervation of antagonist BEWARE: could be retinoblastoma, cataractss, high IOP Confusion: images appear on top of eachother, c/f diplopia ADAPTIVE MECHANISMS Suppression: brain suppresses one image, may lead to amblyopia Abnormal retinal correspondence (ARC): remapping of points in one retino-cerebral map to account for deviation Abnormal head posture: moves BSV to useful position Microtropia: a small manifest deviation not seen by cover test, due to full compensation by suppression and ARC RFs: maternal smoking, premmie/low birthweight, FHx Tropia: manifest deviation Phoria: latent, common, asymptomatic until fatigue, illness, or a specific visual task (cross cover test) causes decompensation with asthenopia, blurred vision, photalgia, diplopia ESOTROPIA inward eye deviation, most common. Primary accommodative: due to over-accommodation in hypermetropes Rx refractive correction for hypermetropia (solves esotropia), treat any amblyopia Primary non-accommodative: infantile esotropia (most common), <6mo, large angle with alternating fixation (so amblyopia rare). Dissociated vertical deviation (occluded eye elevates and extorts) with latent nystagmus (away from covered eye) and IO overaction are classic. Rx amblyopia, refractive correction, ?timing of surgery Secondary: reduced VA in one eye or intracranial pathology (tumour, trauma, stroke) EXOTROPIA Constant Infantile exotropia: constant large angle, 2-6mo age, with ocular/CNS abnormalities. Rx surgery Constant Basic exotropia: >6mo age, Rx surgery Intermittent distance exotropia: worse for distance. Rx myopic correction, treat amblyopia, orthoptic exercises, prisms, bot/surgery for severe cases <5yo Intermittent near exotropia: full myopic correction, orthoptic exercises, consider surgery Secondary exotropia: reduced VA causes INCOMITANT STRABISMUS neurogenic strabismus: if long standing, paretic muscles underact, c/l synergist overacts, c/l antagonist underacts mechanical: limitation in direction away from restricted muscle, normal spped saccades but stop suddenly early, with IOP increase in direction of limitation and globe retraction (TED - IR fibrosis, myositis) Myesthaenic strabismus Myopathic strabismus: CPEO Hess test: red-green glasses (filters) used to separate fixation, have to click ball into target Lees test: uses mirrors instead of filters to dissociate eyes, better Surgery: only when conservative options have been tried (refractive/amblyopia Rx, prisms, botox). Resection strengthens EOM, recession weakens

abdo pain

Recurrent abdo pain syndrome >=2 episodes in 3mo interfering w/ school. Non-organic Well child, short episodes of peri-umbilical pain, good appetite, no other GI symptoms, no FHx of migraine or coeliac, normal o/e. Co-existent headache + fatigue Rx: reassure, pain is genuine (like headache), personal support, avoidance of stressful events (eg bullying), acknowledgement of symptom, play down pain. Minimise secondary gains (school avoidance). Formal psychotherapy in complex or resistant cases Abdominal migraine: pallor, headaches, anorexia, n+/-v. Overlap w/ periodic/cyclic vomiting syndrome, strong FHx migraine Diet: avoid citrus, chocolate, caffeine, solid cheeses Pharma: pizotifen, sumatriptan, gabapentin, amitriptyline Spurious GI haemorrhage: black stools after bismuth/iron ingestion, red vomit after beetroot, urate crystals in nappies, normal pseudomenstruation in newborns

DIC

Release of procoagulants into circulation causes widespread clotting, depleting clotting factors and causing bleeding Neonates: common are severe asphyxia, sepsis. Also severe IUGR, NRDS, apiration pneumonitis, NEC, Rh disease, dead twin, severe haemorrhage, purpura fulminans, profound hypothermia Older kids: common sepsis, severe trauma, burns. Also profound shock, hepatic failure, anaphylaxis, severe blood transfusion reactions Bruising, bleeding everywhere (wounds, mucosal membranes -GI/GU/resp), oozing from previous puncture sites (eg. old cannulation sites). Microthrombi cause renal impairment, cerebral dysfunction, localised skin necrosis. Also ARDS, MAHA Thrombocytopenia, prolonged INR,APTT,TT, reduced fibrinogen, highly increased FDPs. Film shows schistocytes Treat cause. Replace platelets if plt<50, cryoprecipitate to replace fibrinogen, FFP to replace clotting factors. Treat APML (highest DIC risk) promptly with ATRA

Adam's disease

Repetitive injury of elbow following throwing/serving sports results in medial epicondylar fragmentation or avulsion w/ ddelayed physeal fusion. May have ulnar n involvement, tenderness over medial epicondyle Rx rest, splint, NSAIDs, graduated return to activity, surgery for loose bodies

Attachment

Resilience: ability to resist adversity, cope with uncertainty and recover more successfully from trauma. High IQ, sense of humour, empathy, loving family environment, successful at school, extra-curricular activity, religious/faith communities Level of attunement with caregiver permanently influences HPA axis (ie baseline stress) and establishes attitude towards relationships (attachment) as below Secure: values relationships, confident of self-worth Insecure avoidant: emotionally independent, does not value relationships Insecure anxious: self-worth depends on approval of others, attention seeking Insecure ambivalent: values relationships, but cautious about safety Disorganised: neither self-sufficient nor able to use relationships Reactive attachment disorder: disturbed social relations diagnosed <5yo Rx: although working with child helps (eg behavioural management), most effective is modification of primary relationships Disinhibited attachment disorder: institutional care from early life (always had multiple carers, never one primary care giver). Unduly friendly w/ strangers, doesn't mind who looks after them, forms superficial friendships easily. Overactive, aggressive, emotionally labile, tolerate frustration poorly.

GH deficiency

Same causes as hypopit, most commonly cranial RT (GH cells v radiosensitive) Psychosocial deprivation: physical/emotional abuse causes reversible inhibition of GH secretion and growth failure. Improves after 3-4w away from stressor, with impressive catch-up growth GH insensitivity (Laron syndrome): high GH, low IGF-1 not helped by SC GH Infancy: hypoglycaemia, normal length as this period not GH dependent Childhood: slow growth rate, short stature, increased subcut fat, truncal obesity, reduced muscle mass. If congenital, relative hypoplasia of midfacial bones, frontal bone protrusion, delayed dental eruption, delayed anterior fontanelle closure IGF1, IGFBP3 are low, GH provocation test to confirm (ITT or glucagon stimulation test), BA SC GH to Rx, if done early good catch-up growth occurs. Continue until adult height attained. Reconfirm diagnosis in adulthood, then offer continued injections (helps maintain lean body mass, muscle strength and bone mineral density

Systemic sclerosis

Scleroderma (skin fibrosis), internal organ fibrosis, microvascular abnormalities. 90% ANA +ve, 40% anti-centromere +ve. Scleroderma can be limited or diffuse Limited: aka CREST syndrome (Calcinosis, Raynaud's, Esophogeal dysmotility, Sclerodactyly, Telangiectasias). Anti-centromere Abs in 80%. Big danger is pulmonary HTN (can be present subclinically so check! Treat with slidenafil and bosentan). Scleroderma in face+distal limbs Diffuse: Involves whole body (HTN, lung fibrosis, renal). Antitopoisomerase (anti-Scl70) Abs in 40%, anti-RNA polymerase in 20%. Strict BP control, annual echocardiogram and spirometry. Scleroderma in trunk+proximal limbs BOTH progress to organ fibrosis, but limited subset progress slower and later No cure. Immunosuppression (IV cyclophosphamide) for organ or progressing skin involvement. Antifibrotic tyrosine kinase inhibitors in trials. ACEi/ARBs reduce risk of renal disease

Paroxysmal cold haemoglobinuria

Seen with viruses (VZV, measles) and syphilis. Caused by Donath-Landsteiner Abs sticking to RBCs in peripheral cold, then activating complement causing self-limiting haemolysis on rewarming (chest/trunk). Fever, chills, haemolysis Protect from cold, transfuse as required

De Quervain's/subacute thyroiditis`

Self-limiting post-viral painful goitre with fever. Initially hyperthyroid as excess T4 released (3-6w), then euthyroid (1-3w), then hypothyroidism as negative feedback overshoots and colloid becomes depleted (weeks-months), then finally euthyroidism. High ESR, low uptake on isotope scan. Treat with NSAIDs (steroids if severe, bblockers for symptoms)

Short bowel syndrome

Severe intestinal disease or extensive surgical removal leading to malabsorption, fluid + electrolyte loss Diarrhoea, steatorrhoea, FTT, dehydration, low Na/K/Mg/Ca, cholestasis (bile salt loss), PUD (increased gastrin), malnutrition disorders (specific - B12, general), renal stones (oxalate) Corret electrolytes/dehydration, PN, PPI/H2a for PUD, loperamide for diarrhoea, cholestyramine for cholestasis (chelates bile salts), parenteral somatostatin, PO Abx for small bowel overgrowth Small bowel Tx, surgery to reduce motility 90% 5y suvival, better prognosis if ileo-cecal valve retained

Hypoplastic left heart syndrome

Severely underdeveloped tiny non-functional LV. PDA and ASD/PFO required to maintain circuit Early onset (d) of cyanosis w/ HF and collapse -> death in first few days of life. Most infants sick, greyish-blue colour, poor peripheral perfusion, weak peripheral pulses Rx Prostaglandin E infusion required Surgery: palliative (2-3stages, Norwood operation or Hybrid procedure) or definitive (heart Tx)

HSP

Small vessel vasculitis with IgA deposits in skin, joints, gut and kidney Typically in young males. Purpura over buttocks and extensor surfaces, glomerulonephritis, flitting polyarthritis, abdo pain, intussusception (can mimic acute abdomen). Also malaena, haematemesis, perforation Diagnosis clinical Skin biopsy: leucocytoclastic vasculitis w/ IgA+C3 on IF Renal biopsy: IgA deposits on hypercellular mesangium ACEi/ARB: reduce proteinuria, protect renal function Corticosteroids+fish oil if persistent proteinuria>1g refractory to 3-6mo of ACEi/ARB AND GFR>50 Steroids for gut involvement Generally resolves spontaneously within 6w

Chondromalacia patellae

Softening of articular cartilage of patella, may cause OA Rx PT

MUS

Somatisation disorder: repeated MUS affecting multiple organ systems, onset <40yo. Chronic in adults, less so in children. If v serious Briquet's syndrome. Fat file, pts life revolves around illness - usually one organ system, then investigations exhausted, then switch to next. 2/3 psychiatric comorbidity (depression/anxiety most common - may attribute to pain). RF: FHx, childhood abuse Somatoform pain disorder: persistent severe unexplained pain. many psychiatric comorbidity Conversion/dissociative disorders: unexplained loss/disturbance of normal sensory or motor function. Paralysis (flaccid, but synergistic movement intact - eg +ve Hoover's), aphonia (loss of speech, may be able to whisper, comprehension/writing fully intact), sensory loss (matching pts beliefs about anatomy), Seizures (non-epileptiform), amnesia (generally patchy and selective, recovery w/ realisation of forgotten trauma), Fugue (dissociative amnesia + travel to far away place with amnesia of journey - although functioned normally during trip. May forget many personal details, associated with recovery and realisation of trauma) Hypochondriasis: preoccupation with idea of having a serious medical condition. Normal variants/minor ailments interpreted as signs. Not a delusion! Pt can accept fears are groundless - overvalued idea. If delusional treat for delusional disorder. >50% have GAD Rx Psych: behavioural therapy, CBT, IPT, FT, biofeedback Pharma: some weak evidence for antidepressants

Other psych

Speech and language delay: slower development, but in correct sequence SAL disorder: not in correct sequence. For both, see SALT Learning disorders Reading disorders (dyslexia): difficulty reading with phonological processing deficit (4% of school kids, male) Rx 1:1 remedial teaching + parental involvement Disorder of written expression: often coexists w/ dyslexia, difficulties spelling, syntax, grammar, composition. Difficulty with narrative->expository shift in writing assignments Mathematics disorder: female, associated with visuospatial deficits (R parietal dysfunction) Developmental co-ordination disorder (DCD): aka dyspraxia - difficulties with organisation, planning and execution of physical movement. Can be part of DAMP syndrome (Deficits in Attention, Motor control and Perception) ELIMINATION DISORDERS Enuresis: psychoeducation (ERIC) Nocturnal: defined as involuntary urination >5yo w/o nervous/urinary defects. Primary or secondary (prevoiusly bed dry >6mo). Look for cause (constipation, DM, UTI). If none, advise on fluid intake, dieting and toileting. Enuresis alarms (first line <7yo), night lifting, reward systems/star charts, medication (desmopressin - first line >7yo, imipramine, oxybutynin) Diurnal: body alarms, meds, psych (eg anxiety managemnt if due to fear of toilet) Encopresis: 95% have functional constipation with retention and overflow. Physical (loss of sensation) and psych (fear of toilet/pain on defecation) factors. Rx psychoeducation, family therapy (Sneaky Poo), star charts, meds (laxatives) Pica: >1mo eating non-nutritive substances at >1yo (dirt, stones, hair, faeces, plastic, paper, wood, string). Associated with developmental disability, may cause toxicity, infection, GIT obstruction/ulceration Rumination: voluntary or involuntary regurgitation and rechewing of partially digested food. Start mins post-prandial, lasts 1-2h, appears effortless preceded by belching. Onset 3-6mo age, lasts months then spontaneously remits. Weight loss, halitosis, dental decay, aspiration, recurrent RTIs, asphyxiation and death (10%). Rx behavioural methods, nutritional advice EATING DISORDERS Food avoidance emotional disorder: food avoidance + weight loss w/o abnormal cognitions about weight/shape. Usually know they are underweight, want to get heavier but can't Selective eating: long-standing restriction of types of food eaten Pervasive refusal: rare - profound and pervasive refusal to eat, walk, talk or engage in self care. Rx inpt admission Paediatric autoimmune neurological disorder associated with streptococcus (PANDAS): associated with OCD/tic disorders. Orepubertal onset of episodic exacerbation of symptoms with evidence of GAS

Lyme

Stage 1/early localised (3-30d): erythema migrans (1/3 do not see, warm skin to make more obvious), pain/pruritus, lymphadenopathy, flu-like symptoms (fever, malaise, headache) Stage 2/early disseminated (wks-mnths): borrelial lymphocytoma (blue-red plaque/nodule, commonly on earlobes, genitals, nipples), neuroborreliosis: lymphocytic meningitis, ataxia, amnesia, cranial nerve palsies, neuropathy (severe nocturnal pain), enchephalomyelitis. Carditis: acute 2nd/3rd AV block, myocarditis Stage 3/late disseminated (mnths-yrs): acrodermatitis chronica atrophicans (skin inflammation then bluish-red atrophy on perpheries), chronic Lyme arthritis Diagnosis is 2-tier serology: first ELISA/IFA then if +ve confirmation with Western immunoblot. Limitations - crossreactivity w/ other spirochaetes, ~10% background positivity, seroconversion takes weeks. Culture and PCR (RIPL) are less used. Treat with dox 10-21d. amox (if <=8yo), penicillin V, azithromycin are alternatives. For neuroborreliosis: ceftriaxone, IV benzylpenicillin or dox 14-30d Prophylaxis: cover limbs, use DEET, remove tics (tweezers, hold close to mouth)

Coeliac disease

T-cell response against gluten (wheat, barley, rye, oats) causing villous atrophy. 95% DQ2, rest DQ8. More common in Irish, any age, but typically <3yo on introduction of cereals into diet Stinking stools/steatorrhoea, diarrhoea, abdo pain, bloating, N+V, aphthous ulcers, angular stomatitis, weight loss/failure to thrive, fatigue, weakness, osteomalacia. 30% v. mild, mimicking IBS Complications: anaemia, dermatitis herpetiformis, osteopenia/porosis, hyposplenism, increased malignancy risk (oesophageal, gastric, CRC, GI T cell lymphoma), neuropathies Dermatitis herpetiformis: itchy blisters in groups on knees, elbows and scalp, can drive pts to suicide! Very responsive to dapsone, which should be continued with gluten free diet Low Hb w/ high RCDW, low B12 and ferritin anti-transglutaminase serology (check for IgA deficiency) If +ve/high index of suspicion, duodenal biopsy while on gluten diet: subtotoal villous atrophy, increased intraepithelial WBC and crypt hyperplasia HLA haplotyping may help Other abs: anti-endomysial, anti-gliadin Gluten-free diet: rice, maize, soya, potatoes, sugar are okay. Gluten free food is prescribable Monitor by symptoms and repeat serology

Pure red cell aplasia

TEC Diamond-Blackfan Drugs (EPO) Viral (B19) Isoimmune (haemolytic disease of the newborn) Congenital dyserythropoietic anaemia Megaloblastic anaemia (aplastic phase Diamond-Blackfan syndrome (congenital red cell aplasia): unknown heritable defect causing reduced BM RBC production Onset in 1st year w/ dysmorphic features, cleft palate, hypertelorism (Cathie's facies), thumb abnormalities (20%), triphalangeal thumbs, absent radii. Deafness, renal defects, CHD, MSK defects, short stature, growth retardation Normochromic anaemia w/ reduced reticulocytes. BM shows absent RBC precursors. Normal otherwise Rx pred, then taper. Most will require maintenance dose. BMT curative. Transfuse as needed. 20% spontaneously resolve Transient erythroblastopenia of childhood (TEC): acquired self-limiting red cell aplasia. Idiopathic or secondary to bacterial or viral (B19, EBV) infection, drugs, malnutrition, congenital haemolytic anaemia (eg hereditary spherocytosis) Onset <5yo with insidious anaemia, sometimes preceding infection Normocytic normochromic anaemia, absent reticulocytes, normal WCC and plt. BM markedly reduced RBC precursors Rx remove any cause, tranfuse as required. spontaneously resolves within weeks

Lice

Tiny blood sucking creatures. Allergy to lice causes itching (1-3w to develop). Longstanding heavy infestation can cause fatigue, anaemia and under-performance Head louse: pediculus humanus capitis, almost ubiquitous in school-age children in UK, and can infest parents. Scalp itching occurs 23w after infection Elongated grey-brown lice swing from hair to hair (don't prefer dirty hair), cement eggs firmly to hair base (adherent to hair). Once hatches, egg case (nit) becomes white and moves up as hair grows, allowing visualisation. Lice may be visible over ear or by combing onto white sheet of paper Treat all infested family members. Dimeticone lotion (coats lice interfering with water excretion) over dry hair and scalp (one off, shampoo >8h after). Malathion lotion alternative (but many resistant). Regular wet combing reduces population but doesn't eradicate Pubic (crab) louse: Pthirus pubis. transmitted by close contact, infesting short coarse body hair (pubic, perianal, axillary, beard, eyelash/brow). May be visible crawling through hair, or may see empty egg cases (nits) glued to hair shafts. Louse droppings (dark brown/black powder) in underwear. Bites produce maculae cerulea (bluish macules mimicking bruising) Malathion lotion or permethrin cream, wash off after 12h, repeat in 7d Body louse: Pediculus humanus humanus. Small erythematous papules or wheals at bite sites (where skin covered by clothing). Check seams of clothing worn next to skin for visible lice and nits. 2ndary infection common Hot wash clothing + bedding, Rx secondary infection, sedating antiH for itching. No pediculicide needed

Congenital infection

ToRCH

Transient synovitis

Transient synovitis is sometimes referred to as irritable hip. It generally presents as acute hip pain associated with a viral infection. The typical age group is 2-10 years. A low-grade fever is present in a minority of patients but high fever should raise the suspicion of other causes such as septic arthritis. It is the commonest cause of hip pain in children. Transient synovitis is self-limiting, requiring only rest and analgesia.

Measles

Transmitted by droplets. Incubation 10-18d, v. infectious 2-5d before + after appearance of rash Prodrome 2-4d of fever, 4Cs (conjunctivitis, coryza, cough, Koplik spots), diarrhoea. Then generalised maculopapular rash spreading from face (starting behind ears) to trunk to limbs. Leucopenia, lymphopenia and transaminitis. Measles RNA on oral fluid test Complications: Secondary infection: bacterial pneumonia (most common cause of death), otitis media (most common), orbital herpes, GI candidiasis Acute demyelinating encephalitis: within 2w of rash, seizures, irritability, fever, headache, decreased LOC Subacute sclerosing panencephalitis: 5-10y after infection, disturbances in intellect/personality, seizures, motor dysfunction, decerebration. No treatment Other: febrile convulsions, keratoconjunctivitis, diarrhoea, increased incidence of appendicitis, myocarditis Maternal: pneumonia, acute encephalitis/subacute sclerosing panencephalitis, corneal ulceration/scarring (but not teratogenic, but IVIg immediately after birth to prevent neonatal transmission associated with SSPE) Serology (paired acute-convalescent phases), Ag/RNA in saliva/urine Vaccinate, give MMR within 3d of exposure in non-immune. Isolate 4d from rash onset NOTIFIABLE

Poliomyelitis

Transmitted faeco-orally. Replicates in intestines, then invades nerves, destroying anterior horn cells. Endemic in Afghanistan, Pakistan Incubation 7-10d. Flu-like prodrome, then preparalytic phase: fever, tachycardia, headache, vomiting, neck stiffness, tremor, limb pain. 1/200 progress to paralytic phase: LMN and bulbar signs, no sensory signs. 40% post-polio syndrome (<= 40y later): new progressive muscle weakness, myalgia fatigue Diagnosis by viral culture of stool (best, 2 samples >24h apart), pharyngeal swab, blood, CSF. PCR, serology No treatment. Vaccine Salk (IPV) or Sabin (OPV)

ADHD

Triad of inattention, hyperactivity and impulsiveness (can have inattentive only and hyperactive impulsive subtypes), persistent with developemental delay and >5 features (>6 if <=16) . 5% meet criteria. Large genetic component Usually 3-7yo, M>F Inattention: careless w/ detail, appears not to listen, not finishing tasks, poor self-organisation, loses things, forgetful, easily distracted Hyperactivity: seen in structured situations. Fidgets w/ hands or feet, leaves seat in class, runs/climbs about, cannot play quietly, always moving Impulsiveness: talks excessively, blurts out answers, cannot wait turn, interrupts/intrudes on others 50-80% have mental comorbidities, 30% persist in adults, 60% have >=1 symptom (usually inattention) Connor's rating scale, SDQ Psychoeducation, behavioural/school interventions, dietary changes Pharma prescription by experts only, 70% effective. Regularly monitor and discontinue at intervals Methylphenidate (Ritalin): CNS stimulant, >6yo. ADR abdo pain, n+v, dry mouth, anxiety, insomnia, dysphoria, headaches, anorexia, reduced weight gain Atomoxetine: non-stimulant NRI, up to 6w for effect. ADR anorexia, dry mouth, n+v, headache, fatigue, dysphoria Dexamfetamine: CNS stimulant similar to methyphenidate If severe and pervasive, pharmacotherapy 1st line. If mild, behavioural 1st line 80% continue into adolescence, 65% into adulthood

Pierre-Robin sequence

Triad of micrognathia, glossoptosis and cleft palate. Large tongue blocks airway causing OSA. Prone positioning helps move tongue anteriorly, but tracheostomy may be required. ETT difficult, tube feeding may be necessary Palate repaired 9-18mo, airway problems improve with age

Nephrotic syndrome

Triad of proteinuria >3g/24h (1g/m2/24h for kids, ACR>250,PCR>300), hypoalbuminaemia (<30, <25 for kids) and oedema. Due to podocyte injury Primary: minimal change disease (MCD 85%), membranous nephropathy (MGN), FSGS (10%), membranoproliferative GN (MPGN, 5%)) Secondary: DM, SLE, myeloma, amyloid, pre-eclampsia Presents with generalised, rapid, severe pitting oedema (characteristically periorbitally most obvious in morning and in dependent areas) Oedema: Fluid (1L/d) and salt restriction. Loop diuretics - titre to 0.5-1kg loss/d to avoid pre-renal AKI secondary to intravascular depletion. Add thiazide if required Proteinuria: ACEi/ARB Thromboembolism: Due to loss of clotting factors in urine. High risk of VTE or renal vein thrombosis (loin pain, haematuria, high LDH). Treat with heparin and warfarin Infection: Due to loss of Ig in urine. Ensure pneumococcal vaccines, avoid live vaccines, consider penicillin prophylaxis. BEWARE, pneumococcal SBP should be suspected if abdo pain Hyperlipidaemia: high cholesterol, LDL, TG, low HDL, due to hepatic reaction to reduced oncotic pressure. Give statins

Wegener's

Triad: cANCA +ve small vessel vasculitis, resp tract granulomata, renal disease. Onset adolescence Subacute disease for years -> malaise, fever, weight loss, vasculitis. ENT: nasal crusting, obstruction, ulceration, serous OM, sinusitis, nasal septum/sinus wall destruction, saddle nose Pulmonary: subglottic stenosis (stridor), haemoptysis, lower bronchial obstruction + atelectasis + pneumonia, pulmonary haemorrhage, asymptomatic nodules Renal: microscopic haematuria, mild renal impairment, or RPGN Arthritis: non-erosive polyarthritis, myalgia, arthralgia Skin: palpable purpura, livido reticularis, pyoderma gangrenosum CNS: mononeuritis multiplex, sensorimotor peripheral neuropathy Eye: episcleritis, uveitis, orbital pseudotumour

Testicular torsion

Twist of spermatic cord, causing strangulation of blood supply. Due to congenital b/l abnormally mobile testicular mesentery inside tunica vaginalis. Typically 13-15yo (10-30) CONGENITAL: rare perinatal event, newborn has hard, painless scrotal mass (invariably already infarcted, no need for surgical exploration). No need to fix other testis, as pathology is torsion outside tunica vaginalis Sudden severe hemiscrotal pain, waking pt from sleep. Often N+V. Can radiate to groin, flank or epigastrium (where embryologically the gonads originate). May have slight pyrexia. May have Hx of minor trauma, or previous self-resolving episodes O/E: Swollen, very tender testis. High riding, transverse. Absent cremasteric reflex (+ve Rabinowitz's sign). Elevation of testis does not ameliorate symptoms (-ve Prehn's sign). Overlying skin may be red and oedematous Torted appendix tesis (Hydatid of Morgagni): gradual onset, less severe pain, no N+V. Focal tenderness at upper pole of testis. May be visible through scrotal skin as pea-sized blue/black swelling Clinical diagnosis, assisted by USS (reduced testicular artery blood flow) and radionuclide scanning (reduced uptake) URGENT scrotal exploration: delay leads to testicular ischaemia, atrophy (loss of sperm + hormone production), necrosis (breakdown of blood-testis barrier, causing sympathetic orchidopathia). Once in, fix both testes as bell-clapper abnormality which predisposes to torsion often occurs b/l. If torsion of appendix testes (remnant of mullerian duct) or appendix epididymis (remnant of Wolffian duct), which mimic testicular torsion, just remove with scissors or diathermy probe.

Acute disseminated encephalomyelitis

Typically after infection (usually viral, but can be other infections or vaccination). Autoimmune demyelination similar to MS, forming demyelinated plaques in subcortical/central white matter and cotical gray-white junction seen on MRI CSF: lymphocytosis, sometimes raised protein Pulsed IV methylpred causes improvement over days. May relapsed, then called MDEM (multipe)

SSSS

Typically infants/children, adults w/ renal failure, immunosuppressed. Locus of staph (usually nasopharynx), which release epidermolytic toxins (cleave skin high in dermis Tender erythema accentuated in flexural and periorificial skin. Thin walled blisters rupture rapidly but v. superficial not involving whole epidermis, with no mucosal involvement (cf TEN) Culture nasopharyngeal swabs (skin swabs -ve as toxin mediated) To differentiate from TEN, peel roof off fresh blister, roll up and send to lab for frozen section. If SSSS, only stratum corneum, if TEN whole necrotic epidermis seen. Can also use Tzank preparation on blister floor - TEN will have no keratinocytes Rx: IV flucloxacillin, excellent prognosis

Acute suppurative thyroiditis

Uncommon, due to Staph aureus, Strep spp, E. coli, rarely fungal Preceding RTI, then painful thyroid swelling, with N/high T4. If recurrent consider thyroglossal cyst remnant Abx + surgical drainage of abscess if present

Cryptorchidism

Undescended testes. 3% newborns, 1% 1yo. Spontaneous descent occurs in first 6mo, but unlikely after (refer to surgeon). RF: prem Refer from 3mo, should see urologist by 6mo, surgery done at 1yo Complications: infertility, torsion, testicular ca, physiological Palpable: usually at external inguinal ring. Can be brought down by orchidopexy via inguinal incision Impalpable: intra-abdominal or inside inguinal canal. High risk of malignant degeneration in abdo testes. Laparoscopy to Ix (USS, CT, MRI all not helpful). If vas and vessels enter deep inguinal ring, inguinal orchidopexy indicated. If both end blindly at deep ring, testis torted in utero and have resorbed - no further action. If seen in abdomen must be removed or brought down w/ 2 stage orchidopexy Differentiate from retractile testes: cremasteric overactivity causes testes to retract into groin. Scrotum well developed, parents notice testes are in place when in warm bath. If examined in warm environment, testes can be manipulated into scrotum, and remain there until cremasteric reflex stimulated. Surgery not necessary

DDH

Usually female, breech, Fhx, primip, oligohydramnios, macrosomia, calcaneovagus foot deformity, left hip (1/3 bilateral). Due to capsular laxity Differentiate from teratologic dislocation: neuromuscular syndromes cause dislocation before birth, more difficult to treat Barlow test: flex and adduct knees, then push posteriorly. +ve if clunk heard (dislocation has occured Ortolani test: flex and abduct legs, then push greater trochanter up. If +ve, 'clunk' heard at hip relocates B+O unreliable after 6-8w Galeazzi test: lie with knees bent, feet on buttocks, If one knee shorter, unilateral dislocation May have widened perineum and buttock flattening on affected side. Later, limited abduction of flexed hip. Older children: delay in walking, waddling gait (due to shorter leg). If bilateral, increased lumbar lordosis USS <4.5mo, XR >4.5mo. Arrange if examination suggests unstable joint. Wait for ~6w, as many will resolve spontaneously. If still unstable at 6w, long term flexion-abduction splinting in Pavlik harness (<6mo, SE: AVN) If 6-18mo: examination under anaesthetic, arthrography, closed reduction followed by spica hip bandage immobilisation. Open reduction if this fails If >18mo: Open reduction with corrective pelvic/femoral osteotomies required Early diagnosis crucial

Splenectomy

Usually performed in splenic trauma, hypersplenism or AIHA Hyposplenism (functional splenectomy) occurs in coeliac and sickle-cell Give pneumococcal, Hib, MenACWY/B/C, influenza (annualy) vaccines Lifelong prophylactic phenoxymethylpenicillin PO (erythromycin if allergic) Give bracelet, safety netting for sepsis, warn that if infected with malaria will be v. severe

ASD

Usually secundum (80%). Primum associated with AV defects (eg downs) Defect in foramen ovale, 3x more common in F Usually asymptomatic CP, palpitations, dyspnoea, more migraines AF, high JVP, fixed split S2, pulmonary systolic flow murmur. PR/TR due to PHTN may be present Eventually can cause paradoxical emboli or Eisenmenger's syndrome ECG: RBBB with LAD (primum) or RAD (secundum), RVH, lack of sinus arrhythmia CXR: small aortic knob, pulm plethora, atrial enlargement echo diagnostic primum defects usually closed in childhood, secundum should be closed before school entry, either transcatheter or open

PFPS

Usually young athletes (esp runners). Associated with overuse, malalignment, muscle imbalance, patellar tracking abnormalities Patellar aching on prolonged sitting or climbing/descending stairs. May be recent increase in activity or trauma. May have PMHx of patellar subluxation/dislocation. No effusion, retropatellar tenderness, pain on patellofemoral compression with +ve Clarke's test Treat with relative rest, quadriceps and hip strengthening exercises. NSAIDs only reduce pain for a few mo

22q11 syndrome

Velocardiofacial (Di George) syndrome, microdeletion CHD (aortic arch), subtle dysmorphism (wide prominent nasal bridge, down-slanting eyes, small mouth), parathyroid a/hypoplasia (hypocalcaemia), thymus aplasia (T-cell deficiency), short stature, LD, cleft palate, nasal voice

Gastroenteritis

Viral: <7d (adenovirus >14), may develop transient lactose intolerance. Supportive rehydration. Hospitalisation rarely needed - >=10% dehydration, unable to tolerate PO fluids NICE advice: diarrhoea 5-7d, stops within 2w. Vomiting 1-2d stops within 3d Clinical dehydration: unwell/deteriorating, reduced UO, warm exremities, irritable or lethargic. Sunken eyes, dry mucous membranes, tachycardia/pnoea, normal peripheral pulses and CRT, BP Shock: reduced LOC, cold extremeties, pale or mottled skin. Weak peripheral pulses, prolonged CRT, hypotension Hypernatraemic dehydration: jittery movements, hypertonia/reflexia, convulsions, coma Do stool culture if septic, blood/mucus in stool or immunocompromised. Consider if abroad, >7d or uncertainty about diagnosis No dehydration: continue feeds, encourage fluid intake, discourage fruit juices and carbonated drinks Clinical dehydration: as above, + 50ml/kg low osmolarity oral rehydration solution (ORS) over 4h, often and in small amounts Bacterial: rehydration as w/ viral. Abx only if high risk of disseminated disease, artificial implants (VP shunt), severe colitis, severe systemic illness, age<6mo, enteric fever, cholera, E. coli 0157. Most sensitive to co-trimoxazole, ampicillin, 3rd gen cef

Sex assignment

Virilised female: bring up as female, clitoroplasty for citoromegaly in infancy/childhoos, vaginoplasty late childhood/early adolescence Under-virilised male: more complex. If decision made to raise as female, gonadectomy. If male, IM testosterone or topical DHT may improve phallic size. Gender-appropriate hormone therapy

Pericarditis

Viruses bacteria (TB most common) Fungi/parasites (v. rarae) Autoimmune: systemic (SLE, RA), vasculitides (Behcet's, Takayasu) IBD, sarcoid, amyloid, Dressler's/fibrinous Drugs (procainamide, hydralazine, penicillin, isoniazid, chemo) Metabolic (uraemia, hypothyroidism, anorexia nervosa) Others (trauma, surgery, malignancy, radiotherapy, MI, HF) Central sharp CP worse on inspiration/lying down, better on leaning forwards, often refer to L shoulder. fever may be present pulsus paradoxus, pericardial friction rub ECG: can be normal, but diffuse STE and PR depression classic FBC, U+Es, CRP/ESR, cardiac enzymes tests for aetiologies CXR/echo can show pericardial effusion CMR/CT show inflammation Bed rest NSAIDs or aspirin Colchicine consider steroids/immunosuppressants for autoimmune/refractory aetiologies

Pneumonia

Viruses 15-35%, bacteria Neonates: GBS, E. coli, Klebsiella, Staph aureus Infants: S. pneumoniae, Chlamydia School age: Strep pneumoniae, Staph aureis, GAS, B. pertussis, M. pneumoniae Typically temp>=38.5, SOB. If >7yo cough + sputum production. Resp distress, desaturation, lethargy. Dull percussion, crackles, reduced breath sounds, increased vocal fremitus, bronchial breathing NPA for viruses in infants Blood culture Supportive Under 5yo amoxicillin (pneumococcus most likely), over 5yo amoxicillin +/- macrolide (M. pneumoniae most common) Severe: co-amox (if influenza) or cefotaxime IV Effusion Aspirate if large, resp distress, persistent fever despite Abx, long Hx. US and coagulation studies before. Insert chest drain, then aspirate through it. Empyema - ph<7.2, glucose<3.3mmol/L, protein>3g/L, pus cells, USS shows loculation or fibrin strands For effusion, let drain. For empyema, instil urokinase BD for 3d via chest drain. If doesn't resolve, may require CT and surgery

Folate deficiency

Vit B9 found in green vegetables, nuts, yeast and liver, and synthesised by gut bacteria. Absorbed by duodenum and proximal jejunum. Body stores last 4 mo Congenital: Leisch-Nyhan, orotic aciduria Poor diet: poverty, alcoholic, elderly Increased demand: pregnancy, high cell turnover (haemolysis, malignancy, inflammatory disease, renal dialysis) Malabsorption: Coeliac, tropical sprue Alcohol Drugs: anti-epileptics (phenytoin, valproate), methotrexate, trimethoprim Congenital: neural tube defects Otherwise macrocytic megaloblastic anaemia. Treat with folate PO for 4mo. ALWAYS co-administer with B12 unless B12 known to be normal, as folate may precipitate subacute combined degeneration of the spinal cord Pregnancy: give folate from conception to >=12w

Haemorrhagic disease of the newborn

VitK deficiency due to poor transplacental supply, lack of enteric bacteria, maternal anticonvulsants, low vitK in breast milk Rarely 1st day w/ serious bleeding/ICH Moe commonly 2-7d age with bruising, spontaneous bleeding from umbilicus, GIT, intracranial Ix: raise PT and PTT with normal plt Prophylaxis IM vitK at birth. Rx Immediate IV VitK + FFP

Congenital deafness

Waardenburg: most common. Face (dystopia canthorum, synophrys, broad nasal root, heterochromia iridis, sapphire eyes, white forelock, vitiligo, premature white hair) and SN deafness Klippel-Fiel: Deafness (either) + short neck + low hair line Treacher-collins: Conductive deafness + midface hypoplasia Pierre-Robin sequence: conductive deafness Alport: SN deafness + pyelonephritis Pendred: SN deafness + hypothyroidism Usher: SN deafness + RP Jewel-Lang-Nielson: SN deafness + LQTS

Infantile epilepsies

West syndrome/Infantile spasms 1. Flexion of head, trunk, limbs → extension of arms (Salaam attack); last 1-2 secs, repeat up to 50 times 2. Progressive mental handicap 3. EEG: hypsarrhythmia Onset 4-8mo old, M>F. Usually 2nd to serious neurological abnormality (e.g. TS, encephalitis, birth asphyxia) or may be cryptogenic poor prognosis Vigabatrin first line, can cause VF damage. Pred, ACTH alternatives Lennox-Gastaut syndrome May be extension of infantile spasms (50% have hx) onset 1-5 yrs atypical absences, atonic seizures, myoclonic jerks 90% moderate-severe mental handicap EEG: slow spike ketogenic diet may help Benign myoclonic epilepsy of infancy: Myoclonic seizures only w/ normal interictal EEG and normal development Serious myoclonic epilepsy of infancy: prolonged >1h febrile seizures w/ shorter afebrile seizures, focal seizures, atypical absences, segmental myoclonia. EEG normal but photosensitivity and generalised discharges later. SCN1a mutation AVOID LAMOTRIGINE Rx valproate -> add clobazam -> consider stiripentol if resistant Myoclonic astatic epilepsy: myoclonic astatic seizures, myoclonic jerks, generalised t-c seizures. EEG generalised discharges, refractory to Rx

Urticaria

Wheals are dermal oedema (raised, smooth, erythematous, itchy). Disappear within 48h leaving normal skin behind Acute: <24h, generally trigger can be identified, allergy testing useful Chronic: allergy testing disappointing CHRONIC Spontaneous (ordinary): diagnosis of exclusion. May be due to histamine-releasing autoAbs CHRONIC INDUCED Physical urticaria. Cholinergic urticaria: Ach from sympathetic eccrine gland innervation causes wheals within 15min surrounded by erythematous areas that can coalesce to form a flush. Anxiety, exertion, hot baths, sexual activity Contact urticaria: contact with allergens or chemicals (eg latex) Helminths: FBC shows eosinophilia CHRONIC SYSTEMIC Urticarial vasculitis: can be part of SLE Autoinflammatory diseases: familial cold urticaria, Schnitzler syndrome (non-itchy urticaria, intermittent fever, bone pain, arthritis/arthralgia, raised ESR, IgM gammopathy, neutrophils in skin biopsy) UAS to rate severity (0-3) Rx: chronic spontaneous 50% clear within 6mo, others persist for years (esp if angio-oedema). Minimise aggravating factors Soothing antipruritic topical (oily calamine lotion or menthol cream) Non-sedating antiH at day, sedating antiH at night Topical or PO steroids not recommended Cholinergic urticaria: anticholinergics, anxiolytics Systemic: rare, cyclosporin, methotrexate, omalizumab

Viral-induced wheeze

Wheeze is extremely common in pre-school children, with an estimated 25% of children having an episode of wheeze before 18 months. Viral-induced wheeze is now one of the most common diagnoses made on paediatric wards. There is however ongoing debate regarding the classification of wheeze in this age group and the most appropriate management. Over recent years, led by the European Respiratory Society Task Force, the favoured classification for pre-school wheeze is to divide children into one of two groups; episodic viral wheeze: only wheezes when has a viral upper respiratory tract infection (URTI) and is symptom free inbetween episodes multiple trigger wheeze: as well as viral URTIs, other factors appear to trigger the wheeze such as exercise, allergens and cigarette smoke Episodic viral wheeze is not associated with an increased risk of asthma in later life although a proportion of children with multiple trigger wheeze will develop asthma. Management Parents who are smokers should be strongly encouraged to stop. Episodic viral wheeze treatment is symptomatic only first-line is treatment with short acting beta 2 agonists (e.g. salbutamol) or anticholinergic via a spacer next step is intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both there is now thought to be little role for oral prednisolone in children who do not require hospital treatment Multiple trigger wheeze trial of either inhaled corticosteroids or a leukotriene receptor antagonist (montelukast), typically for 4-8 weeks

Mitochondrial diseases

Whilst most DNA is found in the cell nucleus, a small amount of double-stranded DNA is present in the mitochondria. It encodes protein components of the respiratory chain and some special types of RNA Mitochondrial inheritance has the following characteristics: inheritance is only via the maternal line as the sperm contributes no cytoplasm to the zygote all children of affected males will not inherit the disease all children of affected females will inherit it generally encode rare neurological diseases poor genotype:phenotype correlation - within a tissue or cell there can be different mitochondrial populations - this is known as heteroplasmy) Histology muscle biopsy classically shows 'red, ragged fibres' due to increased number of mitochondria Examples include: Leber's optic atrophy MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes MERRF syndrome: myoclonus epilepsy with ragged-red fibres Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen sensorineural hearing loss

Kallman's syndrome

XLR Isolated GnRH deficiency with anosmia and colour blindness. Due to failure of migration of GnRH neurons. Delayed puberty, hypogonadism, cryptorchidism. May have synkinesia, renal agenesis, craniofacial abnormalities (cleft lip/palate, hearing/visual defects)

G6PD deficiency

XLR, mainly males of mediterranian, african or middle/far east descent. Heterozygous female penotype depends on lyonisation Mostly asymptomatic, but temporary reduction in glutathione production can precipitate attacks of acute anaemia and jaundice: drugs (primaquine, sulfonamides, aspirin, dapsone, antimalarials, phenacetin, ciprofloxacin), Vicia faba (broad beans, favism), Naphthalene (henna, moth balls) May have neonatal jaundice Film: normal between attacks. Bite cells, ghost cells and blister cells due to Heinz body removal. Reticulocytes and spherocytes also present Confirm with enzyme assay >8w after attack (reticulocytosis may cause false normal) Avoid precipitants, transfusion if severe attack, folate supplementation after. Rx neonatal jaundice

Bulimia nervosa

Young women, recurrent episodes of binge eating, overvalued ideas about ideal body shape/weight, often with normal BMI and Hx of anorexia nervosa. Mid-adolescent onset, present mid 20s CRITERIA persistent preoccupation with eating Irresistible craving for food Binges: episodes of overeating Attempts to counter fattening effects of food: vomiting, purgative abuse, periods of fasting, appetite suppressants, thyroxine, diuretics PURGING COMPLICATIONS Arrhythmias, cardiac failure/sudden death, electrolyte disturbance Oesophageal/gastric erosions/perforations/ulcers Pancreatitis, constipation, steatorrhoea Dental erosion, leukopenia, lymphocytosis SCOFF questionaire: screening for eating disorders. Sick, lose Control, >One stone in 3mo, Fat when others think thin, Food dominates life? Pharma: fluoxetine Psycho: CBT best, IPT takes longer, bibliotherapy, education, group support Admission: pregnant (increased risk of spontaneous abortion), suicide risk, physical problems, extreme refractory 50% full recovery Binge-eating disorder: w/o compensatory bulimic behaviours

Selective eating

Younger children, resolves in most at teenage years. Only eat limited range (if severe 3-4) foods, but most ingest all required nutrients reassurance and encouragement. More active intervention (heirarchical desensitisation programme) if malnourished

Failure to thrive

aka Faltering growth. Weight more sensitive for infant/young child, height for older Under stress, goes in order weight -> height -> HC Decreased appetite: psych or organic illness Inability to ingest: GI structural/neuro Excessive food loss: severe vomiting, urine (DM) Malabsorption Increased energy requirements (CHD, CF, cancer, sepsis) Impaired utilisation (IEM, endocrinopathies) Non-organic: refer to paed dietitian. If improves in hospital and recurs on discharge, refer to social services. If FTT continues in hospital, occult organic disease

PNH

aka Marchiafava-Micheli syndrome. A rare acquired clonal expansion of a multipotent stem cell, manifesting with haemolysis worsened at night, marrow failure and large-vessel thromboses (Budd-Chiari, CVST). Somatic PIG-A mutations cause the clonal population to lack GPI anchors (usually keep proteins at cell membrane), and so hyperactivate complement (hence haemolysis) Urinary haemosiderin +ve, DAT -ve, intravascular haemolysis reticulocytosis, pancytopenia with BM showing hypoplasia w/ erythroblastic islands Confirm with flow cytometry of GPI-anchored proteins on RBCs (CD55, CD59 deficient) Anticoagulation (warfarin), anti-complement mAbs (eculizumab), immunosuppression (steroids), stem cell transplantation

Nephroblastoma

aka Wilm's tumour. Tumour of children 75% <5yo, 20% familial, 20% met, 5% bl. African = RF Soft pale gray brain-like tumour. originates from embryonic metanephric blastema. Can be 'favourable' (well dif) or 'anaplastic' (poorly dif) familial: usually WT1 c11 mutation, AR but LoH makes disease AD. Can be WT2, WTX, CTNNB1 Mass, abdo/loin pain, haematuria, HTN 15% have rarer manifestations: hemihypertrophy/macroglossia (Beckwith-Wiedemann syndrome) Gonadal dysgenesis/nephropathy (Denys-Drash syndrome), aniridia/retardation (WAGR) and fetal overgrowth (Perlmann's syndrome) USS to diagnose, avoid needle biopsy CT to stage Stage 1: Tumour limited to kidney with intact renal capsule and no rupture/needle biopsy. Complete surgical excision Stage 2: Tumour extension beyond kidney or renal biopsy/spillage of tumour during surgery. Complete surgical excision Stage 3: Unresectable tumour or LN mets or Severe intraoperative peritoneal spillage Stage 4: LN mets outside abdo-pelvis or haematogenous mets to lung/liver/brain/bone Stage 5: b/l renal involvement Staging nephrectomy +/- adjuvant chemo (vincristine + doxorubicin) 92% survival. Chemo first if disseminated or Stage 5 disease (to try to resolve mets). Screening regular CXR f/u as pulmonary relapse more common than local. Nephroblastomatosis: multiple foci of premalignant tissue (nephrogenic rests), observed on renal USS and CT. Close monitoring due to risk of development to Wilms.

GBS

aka acute inflammatory demyelinating polyradiculoneuropathy (GBS/AIDP) Triggers: C. jejuni, CMV, mycoplasma, VZV, HIV, EBV, vaccinations A few weeks after trigger, symmetrical ascending muscle weakness. Proximal muscles affected more than distal, pain common, but no sensory signs. Bladder should be spared. Progressive phase lasts 4w, followed by long recovery phase after 2-4w in descending manner. Can have autonomic dysfunction (sweating, tachycardia, labile BP, arrhythmias) CIDP: slower onset and recovery, benefits from steroids Miller Fisher syndrome: ophthalmoplegia, ataxia and areflexia, associated with anti-GQ1b Abs NCS: slow conduction (demyelination) CSF: high protein, normal cell count (albuminocytological dissociation) anti-GM1 Ab in 20% Do FVC 4 hourly, if dangerously low transfer to ITU on mechanical ventilation. Treat with 5d of IVIg, or plasmapheresis if refractory. PT to prevent contractures. Good prognosis

OI

aka brittle bone disease. Inherited disorder of type 1 collagen causing joint laxity and fragile low-density bones which recurrently fracture with abnormal healing leading to deformity I: AD mildest and commonest. Associated with blue sclerae, AR and hearing loss. Fractures occur pre-puberty. SXR wormian bones II: AR lethal perinatal form with multiple fractures, blue sclera and dwarfism. Relative macrocephaly, large fontanelles, micromelia, triangular facies w/ beaked nosed, lowed limbs, legs abducted 90deg. Beaded ribs w/ resp insufficiency III: AR severe form. Fractures at birth with progressive spine and limb deformity and resultant short stature. Blue or white sclera, dentinogenesis imperfecta (transparent/discoloured teeth), relative macrocephaly, pectal deformity, triangular facies, easy bruising, reduced life expectancy. Popcorn metaphyses, flared lower ribs, vertebral compression IV: AD moderate form. Fragile bones with white sclera after infancy. Bowed long bones, moderately short stature. Metaphyseal flaring, vertebral compression V: AD moderate, white sclera. IO calcification, hyperplastic callus VI: moderate-severe. Scoliosis, white sclera, fish scale bone lamellation VII AR moderate. Short procimal limbs, white sclera XR: multiple fractures, osteoporotic bones with thin cortex, bowing deformity of long bones Histology: immature unorganised bone with abnormal cortex ALP normal/hi Skin biopsy: can assess collagen Prevent injury, PT,OT,rehab. Medical: PO Ca, bisphosphonates, calcitonin Osteotomies to correct deformities. Bisphosphonates and intramedullary rods may be considered

Cleidocranial dysplasia

aka cleidocranial dysostosis. Deficient ossification of clavicle and skull, AD General: proportionate mild short stature Cranium: large skull, frontal + parietal bossing, delayed imperfect ossification of sutures and fontanelles Face: underdeveloped facial bones, prominent forehead, pseudoexomphthalmos, hypertelorism, protruding mandible Dental: high arched/cleft palate, late loss of deciduous teeth, slow disordered eruption of secondary teeth Ears: hearing loss, frequent infection Upper limb: mobile drooping shoulder, completely/partially absent clavicle, recurrent shoulder/elbow dislocation, short middle and distal phalanges, long second metacarpal Torso: narrow thorax + pelvis Spine: delayed vertebral ossification, scoliosis/lordosis, kyphosis, prominent cervical transverse processes Lower limb: tubular phalanges of feet Skull: Wormian bones, large open anterior fontanelle, absent/delayed sinus development, hpoplastic maxilla Clavicular abnormalities + shoulder subluxation. Pelvis delayed ossification, widened symphysis pubis, coxa vara of hips Renal tract: image regularly due to association with Wilms Generally relatively little functional disability

Langerhans cell histiocytosis

aka histiocytosis x. Idiopathic, not malignant but managed by oncologist. Monoclonal proliferation of langerhans-lie histiocytes in skin bone pituitary CNS lungs intestines spleen or BM. Can be single or multi-system Variable presentation Pain or lump (isolated bony disease), widespread maculopapular rash, seborhhoeic dermatitis-like scalp rash, discharge from ear, DI, systemic (fever, malaise, anorexia, FTT) Biopsy: Birbeck granules, CD1a+ve S100 +ve Single: remission w/ surgical curettage Multisystem: typically <2yo. Steroids + chemo (vinblastine, etoposide, methotrexate)

Bipolar affective disorder

aka manic depression Mania: elevated mood and >=3 of increased energy (overactivity, reduced need for sleep), thought disorder (pressured speech, flight of ideas, racing thoughts), increased self esteem (overoptimistic ideation, grandiosity, reduced social inhibitions, over-familiarity, facetiousness), reduced attention/distractibility, risk behaviour (extravagant impracticable schemes - preoccupation can lead to self neglect, reckless spending, inappropriate sex), behaviour (excitement, irritability, aggressiveness, suspiciousness), marked social/occupational disruption, psychosis (grandiose/persecutory delusions, manic stupor, loss of insight) Hypomania: >=3 for 4d, not requiring admission, no psychosis, not interfering with social/occupational functioning. Mildly elevated/irritable mood, increased energy/activity, marked well-being/physical+mental efficiency, increased self esteem, sociability/talkativeness/overfamiliarity, increased sex drive, reduced need for sleep, difficulty in focusing (tasks started but not finished) Mixed: both (hypo)manic + depressive symptoms simultaneouslu. eg depression + pressured speech, mania + agitation/loss of libido, dysphoria + manic symptoms (-elevated mood), rapid cycling Bipolar spectrum disorder: >=1 major depressive episode with FHx of bipolar or antidepressant-induced (hypo)mania, but not spontaneous. Rx anti-depressants bad, try mood-stabiliser (valproate) Cycothymia: numerous periods of mild depression and elation, not severe/prolonged enough for bipolar/depression, with no normal state inbetween (sine wave), usually young adult. Rx psychoeducation, psychotherapy. Consider trial of mood stabiliser (lithium, valproate, carbamezapine, lamotrigine) Bipolar affective disorder 1: >=2 episodes with complete recovery inbetween. >=1 manic episode BAD 2 (have to be adult): >=1 depressive episode, >=1 hypomanic episode 70% heritability Originally takes >5y between episodes, but then episodes accelerate with age. 7% don't recur w/ Rx, 45% reduced, 40% resistant. DDx thyroid, substance abuse, ADHD, PD Rx: maintain regular sleep patterns, try to identify pre-episode prodrome. Admit if risk of harm to self (indirect through overspending, sex, substance abuse) or others, severe symptoms Psychotic symptoms: antipsychotic with mood stabilising properties (olanzapine, quetiapine) or + mood stabiliser (valproate, lithium). ECT if severe Manic stupor: admit, ECT/BZD with mood stabilising antipsychotic Mania: 1st line SGA (particularly risperidone, haloperidol, olanzapine), 2nd line mood stabiliser (valproate, lithium - takes 3w to have effect), 3rd line anticonvulsants (lamotrigine, carbamezapine, topiramate) Depression: 1st line quetiapine (if not already on antipsychotic) or SSRI, 2nd line other antidepressants. If severe/lifethreatening, ECT 1st. Taper after 8-12w Maintenance: 1st line Lithium. Not great for rapid cycling of mixed episodes. 2nd line Carbamezapine. 3rd Aripiprazole/quetiapine (if used successfully to manage acute mania, but lowest effective dose). Valproate v. commonly used off license, along with lamotragine/other anticonvulsants, antipsychotics, etc. Maintenance is indefinite Non-pharma: psychoeducation (v important), CBT, interpersonal and social rhythm therapy (IPT/SRT - helps maintain regular pattern of activities), family-focused therapy (FFT), support groups KIDS Only Li licensed for >12yo (diagnosis not possible in pre-pubertal, and rare in teenagers)

Hypothyroidism

aka myxoedema, typically women >=40yo Primary atrophic hypothyroidism: diffuse lymphocytic infiltrate destroys gland with no goitre Hashimoto's thyroiditis: goitre due to lymphocytic infiltrate. Rarely, initial hyperthyroid period (Hashitoxicosis) followed by eu/hypothyroidism. High anti-TPO (microsomal)/anti-thyroglobulin. diffuse non-tender goitre Iodine deficiency: most common worldwide Post-thyroidectomy/radioablation Drug-induced: carbimazole/PTU, amiodarone (iodine excess of drug-induced thyroiditis), lithium, iodine De Quervain's thyroiditis: second phase Secondary hypothyroidism: rare, hypopituitarism POEMS syndrome, Pendred's syndrome Associations: Turner's, Down's, CF, PBC, ovarian hyperstimulation KIDS: autoimmune thyroiditis, post total body irradiation, iodine deficiency Tiredness, sleepy, lethargic, low mood, cold-intolerant, weight gain, constipation, menorrhagia, dysphonia, reduced memory/cognition, dementia, myalgia, cramps, weakness BRADYCARDIC, hypoReflexia, Ataxia, Dry thin hair+skin, Yawning/drowsy/coma, Cold hands/hypothermia, Ascites+nonpitting oedema of eyelids/hands/feet+pericardial/pleural effusion, round puffy face/double chin/obese, Defeated demeanour, Immobile/ileus, CHF. Also neuropathy, myopathy, goitre Pregnancy: eclampsia, anaemia, prematurity, reduced birth weight, stillbirth, PPH Kids: reduced growth velocity, delayed skeletal maturation, mental slowness, delayed puberty + pseudopuberty (isolated breast development or testicular enlargement), SUFE. Myxoedema coma is an EMERGENCY, see algorithm. Last stage before death TFT: high TSH, low T4 high cholesterol and TGs, macrocytic (less commonly normocytic) anaemia Levothyroxine: check 6 weekly (allows time for TSH) and titrate until normal. Then check yearly. Affected by P450 inducers/inhibitors. Beware in elderly/IHD as may precipitate MI/angina

Autism spectrum disorder (ASD)

aka pervasive developmental disorder (triad of abnormal reciprocal social interaction, communication and langage impairment, and restricted interests) Umbrella term containing autism, Asperger's syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS) M>F, typically reduced IQ Relationships: few/no sustained relationships, persistent aloofness/awkward interaction with peers, unusually egocentric with little concern/awareness of viewpoint of others, lack of social awareness Communication: odd voice (monotonous, unusual volume, talking at people w/ little awareness of response), language too fomal/stilted/pedantic with no non-literal comprehension, limited nonverbal (impassive appearance, few gestures, abnormal gaze, awkward odd posture/body language) Interests: obsessively pursued interests, set approach to everyday life with unusual routines/rituals, change is upsetting May have seizures, motor tics, unusually intense sensory responsiveness w/o typical pain response ADI-R, DISCO, 3di Multidisciplinary approach. Parenting programs, visual timetabling, communication interventions (SALT) Risperidone for short-term Rx of aggression Melatonin for behavioural therapy-resistant sleep disturbance

chronic non-specific diarrhoea

aka toddler diarrhoea. 6mo-5yo Colicky intestinal pain, flatus, abdo distension, loose stools w/ undigested food (peas and carrots stools) Reassure, diet (increase fat intake, normalise fibre, reduce milk, fruit juice/sugary drink intake) Loperamide occasionally necessary

Glue ear

aka. otitis media with effusion. Due to non-functioning eustachian tube (kids) RF: smoking parents, bottle feeding, nursery, cleft palate, atopy Hearing loss, recurrent otitis media, poor speech development, failing school performance, antisocial behaviour Watchful waiting: 50% resolve in 3mo Hearing aid: 4-8yo Grommet: short GA +/- adenoidectomy

NF1

aka. von Recklinghausen's disease. AD mutation of NF1 at 17q11.2 Cafe-au-lait spots: flat coffee-coloured patches of skin seen at 1yo, clearest in UV light. Increase in number and size with age, adults have >=6 >=15mm Freckling: in skin folds (axillae, groin, neck base, submammary area), present by age 10 Dermal neurofibromas: small, violaceous, gellatinous nodules appear at puberty. May become papillomatous, increase with age. Not painful, but can itch Lisch nodules: tiny harmless brown/translucent mounds on iris <=2mm (hamartomas, use slit-lamp) by 6yo Also short stature and macrocephaly Complications (30%) Mild learning disability (common) Neurofibromas: cause local nerve compression (weakness, pain, paraesthesiae), GI (bleeds, obstruction), bone (cystic lesions, scoliosis, pseudarthrosis), RAS (HTN), phaeochromocytoma, plexiform neurofibromas (large subcutaneous swelling) Malignancy (5%): optic glioma, sarcomatous change in neurofibroma, slightly higher risk of epilepsy and carcinoid syndrome Criteria 2 of the following 7: >=6 cafe-au-lait macules >5mm (pre-pubertal) or >15mm (post-pubertal) >=2 neurofibromas (any type) or 1 plexiform Freckling in axillary or inguinal regions Optic glioma >=2 Lisch nodules Distinctive osseous lesion (eg sphenoid dysplasia) First-degree FHx MDT, genetic counselling. Yearly cutaneous survey and BP monitoring, excision of particularly bothersome dermal neurofibromas

Graves

anti-TSH receptor IgG stimulates thyroid production and bind orbital autoantigens. Triggered by stress, infection, childbirth Usually hyperthyroid, but can become euthyroid or even hypothyroid Eye disease (25-50%, goes by Rundle's curve): may be initial symptom. Eye discomfort, grittiness (exposure leratopathy from lid lag/lagophthalmos), tearing, photophobia, diplopia, reduced acuity. Exophthalmos, proptosis, chemosis, corneal ulceration, papilloedema, loss of colour vision, opthalmoplegia. Marcus-gunn pupil/reduced VA/colour/VF indicates optic nerve compression, seek help - decompression surgery may be needed. Pretibial myxoedema (oedema above lateral maleolus), thyroid acropachy (clubbing, painful finger/toe swelling, periosteal inflammation) Thyroid autoantibodies. Diagnosis clinical. MRI/CT shows thickened orbital muscles 2 options, titration (start high dose carbimazole, then titre down according to TFTs 1-2montly) or block-and-replace (carbimazole+levothyroxine, less risk of hypothyroidism). Keep on either for 12-18mo, then withdraw - 50% will relapse requiring radioablation or surgery (thyroidectomy, beware laryngeal nerve damage) Radioiodine: no risk of cancer/infertility, but CI in pregnancy/lactation. May cause thyroid storm Eyes smoking cessation (worse prognosis) symptomatic: artificial tears, sunglasses, avoid dust, elevate bed when sleeping (oedema reduction), Fresnel prism (diplopia) severe (CNII compression): high dose steroids (IV methylpred) surgery: decompression for optic nerve, eyelid surgery for cosmesis, orbital radiotherapy for opthalmoplegia anti-TNFalpha is an emerging therapy

VSD

congenital (FAS, downs) acquired (MI) Can be perimembranous, muscular or multiple small defects (maladie de Roger) severe early HF or asymptomatic harsh pansystolic murmur at lower left sternal border w thrill (louder if smaller VSD), signs of pulmonary hypertension (loud P2, RV heave), recurrent chest infections Eventually AR, IE, Eisenmenger's may develop ECG: various depending on size/duration CXR: cardiomegaly, large pulm arteries, pulm plethora (or closer to normal in small defects) Many close spontaneously. If medical therapy fails, or symptomatic, or shunt >3:1, or IE, then corrective closure (usually open but can be endovascular, done at 3mo for congenital)

Genu _____

congenital genu recurvatum: knees bend wrong way. Commonest in breech, associated w/ DDH, NTDs, arthrogryposis, talipes equinovarus. Gentle stretching, serial castig, guadriceps lengthening at 1-3mo Acquired genu recurvatum: physiologically curved knee in girls due to joint laxity. May be familial, usually b/l. Can be caused by trauma to tibial physis causing progressive deformity w/ growth Genu valgum: Physiological (mostcommon) metabolic (renal osteodystrophy, rickets, hypophosphataemia), skeletal dysplasia (Kniest's syndrome, congenital dislocation of patella), Haem (myelodysplasia). U/l unusualy, should look for infection/trauma/tumour. Often associated ww/ pes planus and widened intermalleolar distance. Measure tibiofemoral angle No XR until >18mo Most don't need surgery. If immature, reversible epiphysiodiesis of medial tibia. If mature, corrective osteotomies. 95% resolve spontaneously Genu varum: physiological, due to IU foetal position, structural (OI), metabolic (rickets, hypoPO4), skeletal dysplasia (metaphyseal dysplasia, achondroplasia, enchondromatosis), local (Blount's disease, osteochondromas, trauma/infection) Rx as above, 95% resolve spontaneously

XLD

fragile X syndrome: common cause of LD, trinucleotide repeat (CGG). Usually undetectable until adulthood. Large testicles/ears, smooth skin, hyperextensible fingers, flat feet, MVP, hypotonia, inguinal/hiatus hernia, face (long/narrow w/ underdeveloped midface, macrocephaly), epilepsy, variable LD, behaviour (delayed language development, conversational rigidity, perseveration, echolalia, palilalia, cluttering, overdetailed/circumstantial speech), psych (prominent depression/anxiety). MRI brain - reduced posterior cerebeallr vermis, enlarged hippocampus + causate nuclei, enlarged ventricles. Diagnosis can be made antenatally (CVS/amniocentesis) Rett's syndrome: females only, MECP3 mutation. Early onse/developmental arrest (6-18mo age, delayed motor skills, low eye contact/toy interest. Classically hand wringing, reduced head growth), Rapid destructive/regressive (1-4yo, loss of purposeful hand movement/speech, stereotypies (hand wringing, washing, clapping, tapping), ASD, worsening gait), plateu/pseudo-stationary (4yo-onwards, seizures+motor problems prominent, but rest improves slightly), late motor deterioration (gradual worsening mobility, scoliosis, spasticity and muscle weakness) Aicardi syndrome: rare, female - dysgenesis of corpus callosum and cerebrum + severe LD, usually death in infancy. Microcephaly, facial asymmetry, lowset ears, chorioretinal lacunae, hypotonia, scoliosis, epilepsy, behaviour (aggression, lack of communication, sleep problems, self-injury)

Salmonella

gram negative bacillus, does not ferment lactate, oxidase negative, produces H2S on TSI agar. Invades GI tract via M cells of Peyer's patches. Found in undercooked eggs, poultry, meat Salmonella enterocolitis causes dysentry Incubation 12-36h, then diarrhoea, cramps, fever. Invasive infection: bacteraemia, meningitis, osteomyelitis, septic arthritis Diagnosis by stool culture/PCR Treatment is supportive. Consider Abx in invasive disease (fluoroquinolone, macrolide)

Salmonella typhi/paratyphi

gram negative bacillus, does not ferment lactate, oxidase negative, produces H2S on TSI agar. Invades GI tract via M cells of Peyer's patches. Encapsulated. Mainly in India, Pakistan, Bangladesh Causes typhoid fever Fatigue, headache, anorexia, marked 'stepwise' fever (increasing throughout day, then resets), abdo pain, Faget's sign (relative bradycardia), cough, constipation, rose spots (1-4cm salmon oloured blanching macules due to bacterial dermal emboli). 'Pea-soup' diarrhoea and hepatosplenomegaly by second week. Complications (10%): intestinal haemorrhage/perforation, myocarditis, hepatitis, pneumonia, DIC, CNS involvement (delerium, meningism, encephalitis, cerebellar signs, seizures, coma), eye involvement (corneal ulcer, uveitis, neuritis, thrombosis) paratyphoid equivalent, but less severe. Serotype A>B>C Diagnose by blood (several spread over 10d), BM, or stool (after 1st week) culture. Serology not sufficient. PCR not routine but good. LFTs raised Treat with azithromycin +/- IV ceftriaxone. Dexamethasone for CNS disease. Takes ~1w for fever to respond at bacteria intracellular Vaccine Ty21a is live oral or IM inactivated. 80% effective for ~3y. Only typhoid (not paratyphoid)

E. coli

gram negative bacillus, ferments lactate quickly. Enteroinvasive (EIEC): invades mucosa, causing necrosis and dysentry similar to shigella Enterotoxogenic (ETEC): no invasion, just enterotoxin production - watery 'traveller's diarrhoea' Enteroadhesive: rarer cause of chronic diarrhoea, travellers diarrhoea Enteropathogenic (EPEC): adheres to apical surface, flattening villi. Causes diarrhoea in children Enterohaemorrhagic (EHEC): O157:H7 in undercooked meat, raw leafy vegetables. Shiga-like/vera toxin causes dysentery and HUS Commonly cause UTI, meningitis, nosocomial infection, pneumonia, sepsis Treat according to sensitivities. ampicillin, trimethoprim, ceph, ciprofloxacin, aminoglycoside ETEC 80% traveller's diarrhoea Incubation 1-3d, then watery diarrhoea and cramps lasting 3-4d. Diagnose by toxin identification in stool culture Treatment supportive, antimotility agents EHEC Incubation 3-8d, then diarrhoea, haemorrhagic colitis. HUS (triad of MAHA, thrombocytopenia and AKI) in 10% Diagnosis by stool culture, PCR/immunoassay for veratoxin Treatment supportive. Abx CI! increases risk of HUS

Wooping cough

gram negative coccobacillus. Produces pertussis toxin (Gi inhibitory), adenylate cyclase toxin (increases cAMP) and tracheal cytotoxin. Incubation 10-14d, immunisation not lifelong but neonate particularly vulnerable. 3 stages of pertussis: catarrhal (1-2w, low-grade fever, coryza), paroxysmal (2-6w, intermittent intense cough with inpiratory whoop, central cyanosis and vomiting. Worse at night, after feeding. May have spells of apnoea, subconjunctival haemorrhages or anoxia - syncope + seizures) and finally convalescent (2-4wgradual cough recovery) In young infants, whooping is absent, apnoea instead Subconjunctival haemorrhages Leucocytosis/lymphocytosis Diagnosis - PCR nasal or throat swab. Culture unreliable. Admission: infants <6mo w/ apnoea, cyanosis or significant paroxysms, as risk of seizures, encephalopathy and death. Isolate for 2d after starting Abx (or 21d from onset if no Abx) Vaccination: all children <7yo in close contact. Routine, and pregnant 20-32w. Prophylactic Abx for all close contacts Abx: Erythromycin 14d/clari 7d reduces infectivity but no effect on cough Can be mimicked by B. paraperussis, M. pneumoniae, Chlamydia, adenovirus NOTIFIABLE

Campylobacter jejuni

gram negative, comma shaped bacteria, oxidase positive, grows at 42C. Found in undercooked poultry, meat and unpasteurised milk. Most common cause of dysentery Incubation 1-10d, then bloody diarrhoea, abdo pain, fever, headache. Complications: bacteraemia, hepatitis, pancreatitis, miscarriage, reactive arthritis, GBS Diagnosis by stool culture, PCR/immunoassay Treatment supportive. Abx only in invasive cases (macrolide, dox, fluoroquinolone)

Vibrio cholerae

gram negative, comma shaped bacteria, oxidase positive, grows in alkaline media. produces cholera toxin, permanently activating Gs. Found in faecally contaminated water and raw food (esp shellfish) Serovars 01 and 0139 causes cholera Incubation 2h-5d. 75% asymptomatic but shed bacteria. Profuse (1L/h) diarrhoea ('rice-water' stool), vomiting dehydration, metabolic acidosis, circulatory collapse, death Diagnose by identification of serovars in stool (rapid dipstick test, culture) Treat with oral rehydration salts (WHO/UNICEF ORS sachet), NG if vomiting, IV if severely dehydrated. Abx only in severe disease: dox (single dose) or tetracycline (3d). Zinc shortens illness in children. Vaccine exists!

Bacillus cereus

gram positive rod, aerobic. Forms spores that germinate in warm environments, producing heat resistant cereulide toxin found in rice and pasta. Causes acute onset food poisoning. Emetic type (cereulide toxin) or diarrhoeal type (enterotoxin)

Clostridium difficile

gram positive rod, obligate anaerobe. Spore forming, produces toxin A (enterotoxin) and B (cytotoxin) Causes watery diarrhoea, pseudomembranous colitis (pseudomembranes on endoscopy), ileus, toxic megacolon. Secondary to broad spectrum Abx (loss of competition, turning C. dif to vegetative state) Diagnose with glutamate dehydrogenase immunoassay (+ve for all C. dif) and toxin detection (immunoassay, PCR - detects only pathogenic C. dif). CRP/WCC increase, albumin decreases. AXR for toxic megacolon Isolate within 2h, stop causative Abx Treat mild/moderate w/ metronidazole PO for severe (WCC>15, AKI, colitis or temp>38.5) vancomycin PO or fidaxomicin for refractory, high-dose vanc + IV metronidazole. Fidaxomicin, IVIg are alternatives. Faecal transplantation should be considered

Turner's syndrome

majority do not have classical phenotype, may be hard to identify Short stature due to underlying skeletal dysplasia starting at 3-5yo. Streak ovaries cause loss of pubertal growth spurt, mean height 20cm below norm webbed neck, shield chest, widely spaced nipples, bicuspid aortic valve, coarctation of aorta, cystic hygroma, high arched palate, short fourth metacarpal, multiple pigmented naevi, neonatal poedal lymphoedema, autoimmunity (hypothyroidism) SC GH injections + PO ethinylestradiol to stimulate puberty at 12-14yo (+/- oxandrolone, which may further improve height)

Meningococcal sepsis

meningococcaemia: can be mild (fever, maculopapular rash -> petichial/purpuric). Commonly proximal myalgia and abdo pain. Can quickly kill previously well child. High grade - fever, shock, peticheal haemorrhages, DIC, toe/extremity gangrene, meningitis (can be absent), Waterhouse-Friderichson syndrome (adrenal insufficiency), AKI, ARDS (esp after fluid therapy). complications include amputation, skin necrosis, pericarditis, arthritis, ocular infection, pneumonia, permenant adrenal insufficiency Diagnosis - microscopy of any biopsy shows intra and extracellular diplococci. PCR to confirm. LP CI! meningitis: indolent course. Malaise, nausea, headache, vomiting - commonly misdiagnosed. Progresses to nuchal/back rigidity, photophobia, altered consciousness. Up to 20% left with sensorineural hearing loss, impaired vestibular function, epilepsy, diffuse brain injury. DO NOT DELAY TREATMENT. Ceftriaxone is standars, benzylpenicillin, cefotaxime, meropenem, chloramphenicol are also options. If in community, IM/IV benzylpenicillin immediately (300mg <1yo, 600mg 1-9, 1.2g 10-17). Prevention - quadrivalent ACWY vaccine, B since 2014. Offer to vaccine naive hypo/asplenics. All contacts should be given single dose ciprofloxacin (1st line) or ceftriaxone, or rifampicin BD for 2 days

Nystagmus

nfantile nystagmus syndrome: usually no oscillopsia. Can be idiopathic (<2mo age), due to anterior visual pathway/ocular disease (sensory deprivation - eg albinism, cataract, LCA, optic n hypoplasia. erratic rolling eye movements with reduced VA), or fusion maldevelopement (latent/manifest latent nystagmus) Spasmus nutans: 'shimmering' high freq low amplitude nystagmus in <2yo + head bobbing + torticollis, benign ACQUIRED (oscillopsia) Gaze evoked nystagmus: direction of gaze Periodic alternating nystagmus: waxing waning nystagmus lasting 90s w/ 10s rest in each direction Peripheral vestibular nystagmus: vestibular damage = away from lesion, irritation = towards (eg Meniere's) Central: more commonly vertical. Cerebellar, vestibular nuclei, brainstem damage ACQUIRED DISCONJUGATE Acquired pendular nystagmus: brainstem/cerebellar disease, toluene abuse SO myokymia: u/l shimmering nystagmus, usually idiopathic INO See-saw nystagmus: one eye elevates+intorts while other depresses+extorts with slow pendular waveform Treatment difficult and disppointing Medical: GABA-ergics (gabapentin), antiCh (hyoscine), memantine Prisms, botulinum, surgery

Choanal atresia

obstruction of posterior choana of nose, u/l or b/l. Babies are obligate nose breathers, so b/l = asphyxia during feeding and sleep. u/l may be unnoticed May have CHARGE: Coloboma, Heart defects, choanal Atresia, growth/development Retardation, Genitourinary abnormalities, Ear abnormalities and hearing loss NGT: exclude by passage down each nostril CT: membranous/bony obstruction differentiation Acutely: OPA (breathing) and orogastric tube for feeding Transnasal fenestration surgery to restore choanal patency

Allergic conjunctivitis

rhinoconjunctivitis: T1HR, seasonal or perennial. Itching, watery discharge, chemosis/lid oedema and injection with Hx of atopy. Skin prick/RAST. Rx allergen avoidance, ocular lubricants (dilute allergen), topical + PO anti-H, topical mast cell stabiliser. If severe, short course of topical steroid Vernal keratoconjunctivitis: Thought to be allegic, Hx of atopy. Itching, thick mucus discharge, typically young female in Spring Tarsal - flat topped giant 'cobblestone' papillae on superior tarsus Limbal - limbal papillae, white Trantas dots Keratitis - superior punctate erosions, venal ulcer with adherent mucus plaque/shield ulcer, pseudogerontoxon Rx: topical mast cell stabiliser (cromoglicate), steroid (for acute episodes), cyclosporin (steroid sparing during tapering), mucolytic (acetylcysteine) Atopic keratoconjunctivitis: 25-30yo, Hx of atopy, with severe lid desease (eczema/staph). Itching, red eye w/ keratitis (photophobia+blurred vision). Small tightly packed papillae, chemosis, limbal hyperaemia, may scar. Punctate epithelial erosions, shield ulcers, pannus in cornea Rx: as with VKC. PO immunosuppression if severe, surgery for severe keratitis. Treat lid desease

GORD

slow gastric emptying, liquid diet, horizontal posture, hypotonic LOS RF: preterm, neuro disorders GI: +regurgitation following feeds developing <8w, non-specific irritability, rumination, oesophagitis (heartburn, difficult feeding w/ crying, odynophagia, haematemesis), faltering growth (caloric deficiency) Resp: apnoea, hoarsness, cough, stridor, LRT (aspiration pneumonia, asthma, BPD) Neurobehaviour: Sandifer's syndrome (bizarre extension and lateral turning of head, dystonic postures) Complications: oesophageal structure (dysphagia), Barrett's oesophagus, FTT, anaemia, LRT disease Ix: if uncertain, endoscopu, biopsy, 24h ph probe. barrium swallow (aspiration) or oesophageal manometry (oesophageal dysmotility) Rx: nurse head up 30deg prone, ensure not being overfed Diet: thickened milk feeds (infants), small frequent meals, avoid pre-sleep, fatty foods, citrus, caffeine, carbonated drinks Drugs: Gaviscon trial (not to be used with thickening agents). PPI/H2RA only if unexplained feeding difficulties (refusing, gagging, choking), distressed behaviour, faltering growth. Prokinetic drugs (domperidone) and mucosal protectors (sucralfate) may help under specialist advice Surgery: if medical Rx fails, stricture, Barrett's, severe oesophagitis, recurrent apnoea, LRTD, FTT. Nissen fundoplication (SE - gas bloating syndrome, dysphagia, profuse retching, dumping syndrome) Vast majority outgrow by 1yo. If progresses beyond, 50% have chronic, relapsing course

Parvovirus B19

uses P Ag on RBCs for entry. 4-20d incubation, droplet spread. Aplastic crises in sickle cell, slapped cheek/erythema infectiosum/fifth disease in kids ( 6d fever, headache coryza. Then bright erythematous macules on cheek followed by lacy erythematous rash of proximal limbs fading within days, recurring with heat (child is well), may have fever, arthralgia). Confirm w/ paired serological samples Maternal: if immunosuppressed, sudden haemolysis. If comes in contact, do serology (if IgM detected retest and refer, if no Abs, repeat in 1mo) Fetal: 30% transmission. Erythropoietic suppression w/ thrombocytopenia and direct cardiac toxicity causing fatal hydrops fetalis, but not teratogenic Adults (rare): causes pure RBC aplasia and RA-like symptoms

Dyskeratosis congenita

v. rare - dystrophic nails, skin pigmentation, mucous membrane leucoplakia, hypoplastic BM Rx BMT

von Willebrand disease

vWF is carrier for FVIII and platelet adherer Type I: AD 70%, mild Type II: AD/AR, 25%, mild, IIb=thrombocytopenia Type III: AR, almost complete absence, <5%, severe. Type III presents similar to Haemophilia A but with emphasised mucosal bleeds. Always screen in females w/ menorrhagia + IDA APTT prolonges, PT normal, plt normal (unless IIb), PFA raised, FVIIIC reduced, vWF antigen and function reduced Avoid NSAIDs (worsen plt) and IM injections Minor bleeding: local pressure, tranexamic acid mouthwash/systemic Moderate bleeding: Desmopressin (avoid in IIb as lowers plt) Severe bleeding: FVIII conc + vWD factor, as for haem A