👶 PAEDIATRICS COMMON SYMPTOMS IN GP

*CHEST PAIN IN CHILDREN*

*ACUTE MI* - always consider if a teenager with a history of cocaine use or Kawasaki disease. Perform an immediate ECG for confirmation. *GORD/REFLUX* *COSTOCHONDRITIS* *ANXIETY* *EXERCISE INDUCED ASTHMA* - chest tightness and SOB typically peaking between 10-15 minutes after beginning exercise - manage with short-acting β2-agonists shortly before initiating exercise

*HEARING PROBLEMS*👂 - acute otitis media - mastoiditis - pulsatile tinnitus - vestibular schwannoma 🎧 *conduction hearing loss*: sound waves unable to pass from the middle to inner ear - Rinne test (bone>air) with Weber test showing localisation/pathology to the quiet ear - impacted wax, glue ear, foreign body/debris, otosclerosis, cholesteatoma 🎧 *sensorineural hearing loss*: damage to the specialised nerves VIII and hair cells of the inner ear - Rinne test (air>bone) with Weber test localising the pathology in the louder ear - most commonly ongoing exposure to loud noises an ageing (presbyacusis). Others: Meniere's disease

*ACUTE OTITIS MEDIA* - inflammation of the middle ear 👂 bulging/inflamed eardrum usually accompanied by pain; 👂 perforated eardrum, often with drainage of purulent material (pus) 👂 in young children: *pulling, tugging, or rubbing of the ear*, or non-specific symptoms such as fever, irritability, crying, poor feeding, restlessness at night, cough, or rhinorrhoea. - when to give antibiotics? if symptoms (a) lasted >3 days (b) bilateral AOM <2yrs (c) perforation and/or discharge - antibiotics: amoxicillin for 5-7 days or a macrolide (erythromycin, clarithromycin or azithromycin). - if no response to antibiotics; *tympanocentesis* is indicated (puncture eardrum with needle) - *tympanostomy tubes* are indicated in children with recurrent treatment-refractory acute otitis media (3 episodes in 6 months or 4 episodes in 1 year) - complications: meningitis, mastoiditis and recurrent infections can cause development delay in speech and language *MASTOIDITIS* - severe complication of acute otitis media presenting with persistent or recurrent symptoms after initial improvement: profuse ear discharge, tender and oedematous mastoid, and anterolateral protrusion of the auricle. - perform otoscopy first to evaluate the tympanic membrane for inflammatory signs then confirm mastoiditis diagnosis with *CT of the temporal bone*. - *IV antibiotics* (e.g. with vancomycin) as well as *tympanostomy* and subsequent tympanostomy tube insertion in mild cases or mastoidectomy in more severe cases. *PULSATILE TINNITUS*: audible by the physician caused by a dural AV fistula or a carotid artery aneurysm. - AV fistula treatment: embolisation of external carotids to reduce shunt flow. *VESTIBULAR SCHWANNOMA* - tinnitus, sensorineural hearing loss and balance issues. Severe cases can be large enough to cause headaches and brainstem compression - they do NOT cause hydrocephalus or intracranial hypertension

*PALPITATIONS*

*ANXIETY/CAFFEINE USE* *COCAINE USE* - consider in teenagers; look for agitation, sweating, anxiety, paranoia, dilated bilateral pupils *WOLFF-PARKINSON WHITE SYNDROME* - congenital: intermittent tachycardias and signs of *ventricular pre-excitation* on ECG arising from an accessory pathway ("bundle of Kent") - up to 1/3 develop paroxysmal AF - palpitations, dizziness, chest pain, dyspnea, syncopes - ECG: short PR, delta wave (slurred upstroke in QRS complex) due to pre-excitation leading to a wide QRS complex - if unstable: cardioversion - if stable: vagal manoeuvre, anti-arrhythmic e.g. *procainimide*: slow conduction within the aberrant pathway and/or prolong the aberrant pathway's refractory period; a temporary measure of treatment - *AVOID AV nodal blocking agents e.g. beta blockers and adenosine* due to the associated ventricular pre-excitation. AV nodal blockage would result in increased conduction through the aberrant pathway leading to life-threatening ventricular tachyarrhythmias. - *radio-ablation* of the aberrant pathway is definite treatment

*COUGH*

*ASTHMA* - episodic wheezing and SOB *WHOOPING COUGH* - >3 weeks of whooping paroxysmal cough (worse @ night) or vomiting after cough - gram negative bacteria: pertussis - diagnosis: PCR, culture and serology - management: if <6 months old; hospitalise patient, *macrolide treatment* (unless <1 month old), exclusion from schools or nurseries for 5 days from commencing antibiotics or for 3 weeks from onset of symptoms (in those who are not treated) - if infection pursed for >3 weeks: supportive therapy as these patients are no longer contagious. - complications: apnoea, secondary infections (e.g., otitis media), PNX - prevention with DTaP vaccine

*HEADACHE* - CO poisoning - hydrocephalus - encephalitis - meningitis note other differential for headaches in adults *pituitary adenoma*: headaches, visual field defects, and multiple hormone deficiencies due to hypopituitarism usually occur in mid-age

*CARBON MONOXIDE POISONING* - headache, nausea, fatigue - ↑Hb ↑Hct levels (due to erythrocytosis). - patients with CO poisoning often have a normal SpO2 because carboxyhemoglobin is misinterpreted by some pulse oximeters as normal oxyhemoglobin. *HYDROCEPHALUS* - severe headache, dizziness, *bilateral papilloedema*, bulging anterior fontalle, dilated ventricles on MRI - those with a history of spinal bifida are most @ risk. *ENCEPHALITIS* - fever, headache, *change in personality*, generalised or focal seizures, focal neurological deficit - investigate: PCR of CSF fluid for common viruses e.g. HSV, CMV, VZV, adenoviruses *MENINGITIS* - peak age 6-12 months - 90% cases occur in children <5 years - most common cause of aseptic viral meningitis are enteroviruses: particularly echoviruses (also the most common cause in children <1yr overall). - risk factors: chorioamnionitis, low birth weight, exposed to GBS during vaginal delivery, unvaccinated, recent URTI, ear infection, head trauma - symptoms vary depending on age: 👶 - infants: fever, lethargy, irritability, poor feeding, vomiting, diarrhoea, respiratory distress, seizures, petechia/purpura non-blanching rash (if N.meningitidis) but most common cause in this group is aseptic viral meningitis. More specifically, seizures, *bulging anterior fontalle, opisthotonos* (rigid spasm of the body, with the back fully arched and the heels and head bent backward seen more specifically in neonates), *focal cerebral signs and gaze deviation*. 👱‍♀️ - children: fever, headache, photophobia, N/V, confusion, low consciousness, back/neck pain stiffness, lethargy, irritability, petechia/purpura non-blanching rash (if N.meningitidis). Look for *Brudzinski's sign* (flex the neck passively and the patient's hips and knees will flex), *nuchal rigidity* (painful neck flexion but has full ROM), *Kernig's sign* (flex the hip and knee at 90 degrees, then extend the knee upward; this should be painful/increased resistance). - investigate: initial: FBC, BCP, glucose, coagulation, blood c&s, gram stain but *LP definite* - follow up in 6 weeks with hearing assessment: (most common complication of meningitis) 🕵️‍♀️ with suspicion of meningitis *- child <12 months: will need LP* *- child 12-18 months has meningeal signs: consider doing LP* *- child >18 months with meningeal signs* CSF findings in meningitis virus => bacterial - the most interesting: ⇈WBC, cloudy sample ↑protein *↓glucose* => viral: ↑WBC count *↑glucose*. if herpes meningitis; ⇈RBC count. 👶 neonate (<28 days): GBS, E.coli, Listeria: => 💊 ampicillin + cefotaxime 👶 small infant (28 days - 90 days) => 💊 cefotaxime + vancomycin (+/- ampicillin if immunocompromised) 👶 infant/child (>90 days): s.pneumoniae, n.meningitidis => 💊 ceftriaxone +/- vancomycin 👦 if viral secondary to HSV: => 💊 acyclovir family member prophylaxis: - pregnant women exposed to a patient with confirmed meningococcal disease (blood showing gram negative diplococci) should receive *ceftriaxone IM prophylaxis* - children <18yrs: *rifampicin* - everyone else >18yrs: *ciprofloxacin*

*PRECOCIOUS PUBERTY* *definition* - development of secondary sexual characteristics before mean age ➖*<8yr old for females*: most commonly constitutional for girls ➖ *<9yr old for males*: most likely pathological for boys note - normal average age for girls to begin puberty is >11, while for boys the average age is >12 - normal puberty development physiology pulsatile release of GnRH → release of LH and FSH → maturation of gonads, release of sex steroids → secondary sexual characteristics

*CENTRAL* - premature increased release of GnRH and thus ↑LH, ↑FSH causing subsequent ↑oestrogen and ↑testosterone - *idiopathic most common reason for girls* (80% at least 6 years old). - CNS pathology consider *obesity* (↑leptin results in ↑GnRH pulsatility), *hypothalamic hamartomas* (rare, tumour-like malformations occur during foetal development and managed with GnRH agonists e.g. leuprolide) - others causes: *pituitary infection, surgery or radiotherapy, meningitis, encephalitis, hydrocephalus, astrocytoma, neurofibromatosis* *WORKUP* 1) perform *bilateral wrist x-ray* - if bone age and chronological age are under 1yr apart; then most likely ok; re-assess in 3-6 months time. - if bone and chronological age are >1 year apart; see below as likely pathological 2) *measure LH levels* - if ↑LH+FSH; workup for central cause (MRI head) - see above. If MRI normal; then cause most likely idiopathic central precocious puberty. Treatment is with GnRH agonists e.g. leuprolide or buserelin which help reduce levels of LH+FSH - if ↓LH+FSH; this would be considered normal in individuals of pre-puberty however; those who have developed puberty must have some other means of symptoms development; consider peripheral causes. Perform a *GnRH stimulation* test for confirmation. If still low; workup for peripheral causes *PERIPHERAL* - sex steroids released independently from the gonads or ectopic tumours without need for HP-axis. - *adrenal, testicular or ovarian tumour* - *McCune Albright syndrome*: most common manifestation in women are *recurrent oestrogen-producing cysts* leading to early puberty, Affects other organs; systemic disease and produces cafe au lait spots as well bone fractures Manage with aromatase enzyme inhibitors. investigations ■ initial screening tests: bone age (with wrist and hand XR) before performing LH and/or GnRH stimulation test. - once central causes rule out; work up for peripheral causes: serum hormone levels (estradiol, testosterone, LH, FSH, TSH, free T4, DHEA-S, 17-OH-progesterone, β-hCG, pelvic U/S) management - *central* causes: GnRH agonists e.g. leuprolide is most effective; they are GnRH agonists and help reduce LH+FSH decreasing the production of sex hormones by the gonads. - *peripheral*: goal is to limit the effects of specific sex steroids or block its effects (e.g. ketoconazole, spironolactone, tamoxifen, anastrozole). Another means is surgical intervention

*VERTICALLY TRANSMITTED INFECTIONS* mother->child infection during pregnancy and childbirth - "CHEAP TORCHES" mnemonic *C*hickenpox/shingles: *H*epatitis C *E*nteroviruses *A*IDS (HIV) *P*arvovirus B19: produces hydrops foetalis secondary to aplastic anaemia *T*oxoplasmosis *O*thers: GBS (always consider GBS initially in any patient presenting with sepsis immediately after birth), Listeria *R*ubella (german measles) *C*ytomegalovirus *H*erpes simplex *E*verything else sexually transmitted: chlamydia, gonorrhoea, HPV *S*yphilis

*CHICKENPOX/SHINGLES*: - VZV can cross the placenta causing varicella syndrome (*limb hypoplasia*, skin scarring, cataract). - VZIG usually given to mothers before birth. *HEPATITIS B*: - s/s: prematurity, low birth weight. - if pregnant woman HBeAg+ or HBsAg+; then give HBIG *ENTEROVIRUSES*: for example: ==> coxsackie type B can cause meningoencephalitis, acute myocarditis ==> echovirus: gastroenteritis *A*IDS (HIV): - through every means of transmission. - causes preterm labour, PROM, IUGR. - after birth; early progression of symptomatic AIDS - initial screening tool in infants include HIV DNA PCR performed within 48 hours of birth, 2 months then 6 months of age. - manage: take antivirals for both mother and infant, plan c-section (to reduce risk during delivery), avoid breastfeeding *AIDS* - for HIV-positive mothers with a viral load of ≤1,000 copies/mL, infant HIV PEP with *zidovudine for 6 weeks* - if viral load is >1,000 copies/mL (or if the mother is not on antiretroviral therapy during pregnancy), a three-drug regimen e,.g *zidovudine, lamivudine, and nevirapine* is recommended for PEP. - additionally, delivery via cesarean section can reduce the risk of transmission, although vaginal delivery may be considered in cases of low viral load. *PARVOVIRUS B19* - "fifth disease/erythema infectiosum causes spontaneous abortion or *hydrops secondary to aplastic anaemia*. - test mother for an acute infection or immunity against the virus with IgG (immune if positive) or IgM (re-test if positive) antibodies - if hydrops occurs; consider foetal transfusion. *T*OXOPLASMOSIS: transplacental transmission can occur causing the 4 C's all involve the CNS - *c*horioretinitis (posterior uveitis) - *c*erebral calcifications (diffuse unlike CMV) - *c*ephalus (hydrocephalus) - *c*onvulsions *O*THERS: *GBS* - *risk factors*: preterm labour <37 weeks, PROM>18 hours before delivery, previous baby with GBS infection, GBS bacteriuria during current pregnancy, maternal temp >38, positive GBS screen between 35-37 weeks - *investigate*: always consider this first in any patient presenting with sepsis @ birth vaginal/anorectal swabs, bloods: FBC, CRP, cultures, urine culture, CXR and CSF culture as per sepsis protocol. - *child manifestations*: neonatal sepsis, meningitis and pneumonia - *treatment*: antibiotic prophylaxis (if risk factors present) with penicillin G. If septic: broad spectrum antibiotics *R*UBELLA (german measles): - transplacental transmission. "Rubber Ducky I'm so Blue": - *RUBBE*lla, g*R*owth *r*etardation - *D*eafness (v.common reason in neonates), *DUC*tus arteriosus patent (continuous harsh systolic murmur) + - *I*=eyes = cataracts, retinopathy, glaucoma: very common reason for blindness in the neonate - *BLUE*berry muffin rash (50%): from face to trunk then generalised *C*YTOMEGALOVIRUS: - transplacental/breast milk: causes CNS abnormalities like toxoplasmosis - it's raining C's with this one: *C*ytomegalovirus, *C*NS disorders such as *C*horioretinitis, *C*alcifications (periventricular), *C*ephalus, *C*onvulsions. Others: sensorineural hearing loss, IUGR, microcephaly. *H*ERPES SIMPLEX: - transplacental or via delivery if HSV lesions present on genitalia. - s/s: CNS (encephalitis), eye and mucous membranes (vesicles) within 4 weeks of delivery. Can also be disseminated: meningoencephalitis, jaundice and hepatosplenomegaly. - IV acyclovir is given to mother at 36 weeks gestation otherwise elective caesarian section to reduce risk of transmission. *E*VERYTHING ELSE sexually transmitted: - chlamydia: mainly conjunctivitis - gonorrhoea: chorioamnionitis, increased risk of premature labour, ophthalmia neonatorum (purulent discharge, lid swelling, corneal hazing within 4 days of birth) - nucleic acid amplification test is both sensitive and specific for testing gonorrhoea and chlamydia. - HPV *S*YPHILIS: transplacental transmission: - risk of preterm labour - early s/s: rhinitis, osteitis, skin bullae. Later on if left untreated: abnormal teeth, keratitis, sensorineural hearing loss. - VDRL screening required for mothers; if positive, perform specific treponema test (FTA-ABS) - management: 1x dose of penicillin G IM if early syphilis. 3x doses if late syphilis.

*FOOT DEFORMITIES* 👣

*CLUBFOOT* (congenital) - plantar flexion of the ankle, inversion of the foot, and adduction of the forefoot (foot downward and inward) associated with - bilateral in 30-50% cases - requires manual repositioning and serial casting within 24 hours of birth *PES CAVUS* (congenital/acquired) - high longitudinal arch - associated with Charcot-Marie-Tooth - requires physiotherapy and orthotics *METATARSUS ADDUCTUS* (idiopathic) - in-toeing, increased angle between 1st and 2nd metatarsals - idiopathic but associated with hip dysplasia - resolves spontaneously in >95% cases within the first 18 months. *SPLAY FOOT* (acquired) - most common foot deformity - pain in the metatarsal joints II-IV, Morton neuroma (shooting pain between the 3rd and 4th metatarsal head) and hallux valgus - x-ray: splaying of the metatarsal bones - manage with orthotics to support ball of foot *PLANTAR FASCIITIS* - risks: athletes 🏃‍♂️, dancers 💃 with repetitive strain causing microtears and inflammation of the plantar fascia - also associated with obesity, T2DM - heel pain worse in the morning when getting out bed and at the end of the day with prolonged standing. Tenderness over the sole, @ the medial calcaneal tubercle and pain with toe dorsiflexion - x-ray; although used to rule out fractures; may show an incidental *calcaneal spur* (calcium deposit which is not the cause for pain!!) - if symptomatic: rest, ice, basic analgesia and physiotherapy (achilles tendon stretching), orthotics with heel cup. Rarely surgery required.

*NASAL AND SINUS PROBLEMS* 👃 causes: rhinorrhoea, allergic rhinitis (sneezing, itching, history of atopy), rhinitis medicamentosa (iatrogenic rhinitis due to prolonged use of decongestants for >1 week), sinusitis (facial pain, tenderness), nasal polyps, foreign body, enlarged adenoids, nasal septal deviation, neoplastic (persistent unilateral) urgent immediate referral if: - unilateral clear nasal discharge with history of head injury, facial trauma or sino-nasal surgery suspect CSF leak - neurological symptoms (severe frontal headache, signs of symptoms of meningism, neurological signs) consider 2WW referral if: - unilateral findings raise suspicion of neoplasia, cacosmia, crusting, associated epistaxis particularly if can see lesion/ polyp, orbital symptoms (diplopia, reduced visual acuity, globe displacement, peri-orbital oedema), objective facial swelling, loosening of teeth note: underlying recurrent infection differential *severe combined immunodeficiency* - absent thymic shadow on CXR, absent tonsils and other lymphoid tissue, recurrent eczematous rashes, low T cell count *X-linked (Bruton) agammaglobulinemia* - severe pyogenic recurrent infections due to B-cell dysfunction (so thymus has nothing to do with it), hypoplasia of the tonsils. Symptoms typical between 6-9 months *chronic granulomatous disease* - defective phagocyte action causes recurrent catalase-positive organism infections in early childhood. Supportive therapy with prophylactic antibiotics (daily TMP-SMX), interferon‑γ, and glucocorticoids to prevent and treat severe infections. BM transplant is definite treatment. *common variable immunodeficiency* - typically diagnosed after puberty with hypertrophy of the lymphoid tissue (unlike the severe combined form) *DiGeorge's syndrome* - can also present with absent thymus but there will be other CATCH22 characteristics

*CORZYA/COLD/RHINITIS* - s/s: nasal discharge/obstruction, sinus pressure (due to obstruction), sneezing, sore throat, general malaise, cough, hoarseness, mild burning of the eyes and a feeling of pressure in the ears or sinuses - management: plenty of fluids, analgesia, steam, inhalation, gargling of salt water, combined intranasal antihistamine and an intranasal corticosteroid (e.g. Avamys i.e fluticasone 1-2 sprays each nostril/day). - re-assure: symptoms should resolve within 2 weeks. - complications: sinusitis, otitis media, croup, bronchiolitis, acute bronchitis *NON-ALLERGIC RHINITIS* - caused by the common cold, oversensitive blood vessels in the nose or overuse of nasal decongestants *ALLERGIC RHINITIS*: inflammation secondary to an allergen, such as pollen, dust, mould or flakes of skin from certain animals. - periods of sneezing, itchiness, blocked or runny nose: can occur for months all year round - avoid allergic triggers: smoking, practice good dental hygiene to reduce the risk of dental infection (which can be associated with chronic sinusitis), avoid underwater diving, - complications: nasal polyps, sinusitis, acute otitis media *ACUTE RHINOSINUSITIS* - s/s: pain/tenderness around cheeks, eyes or forehead, blocked nose, sinus discharge, fever, bad breath. - manage: re-assure 98% cases are viral: rest, fluids, vitamin C, over the counter decongestants containing phenylephrine (not recommended for >3 days), intranasal steroids (such as Avamys), antihistamines, nasal irrigation (with saline/water) - manage: if >10 days: try *mometasone* 200mcg; if still not working consider bacterial cause (purulent nasal discharge, maxillary tooth or facial pain, unilateral maxillary sinus tenderness and worsening s/s after initial improvement) manage with: back up antibiotic prescription: first line in the UK is 💊 *phenoxymethylpenicillin* 500mg QDS for 5 days (*amoxicillin* 10 days/*macrolide* in Canada) or *doxycycline* and if symptoms severe: 💊*co-amoxiclav* 625mg TDS for 5 days *CHRONIC SINUSITIS*: >3 months of symptoms - functional endoscopic sinus surgery

*BLOODY STOOL/DIARRHOEA* . toilet - cow's milk intolerance (occult blood in stool) - Meckel's diverticulum (Michael's) - haemolytic uraemic syndrome

*COW'S MILK INTOLERANCE*: - associated also with soy milk intolerances producing watery stools, crying, spitting, mild abdominal distension, *occult blood in stool* and poor weight gain. - manage with *exclusive breastfeeding* for the first month or use hydrolysed casein formula. *MECKEL'S DIVERTICULUM* - *ectopic gastric and pancreatic tissue at the distal ileum*. The gastric tissue can cause ulcers and thus bleeding. - the most frequent malformation of the GI tract; located in the distal ileum - M>F, <2 years age but can occur up to 6yrs - s/s: RIF pain, haemorrhage (25-50%): painless bright red rectal bleeding (due to gastric ulcer bleeding), tubular fluid filled structure felt in the RIF - complications: obstruction (most common), *intussusception* (redcurrant jelly stools), perforation, abdominal sepsis - investigations: AXR, scintigraphy (scan for ectopic gastric mucosa with technetium Tc99m taken up by the gastric mucosa. - management: laparoscopic resection *HAEMOLYTIC URAEMIC SYNDROME* a reason for *bloody stool in children*. Triad of: - thrombocytopaenia: PLT<150 - haemolytic anaemia: Hb<8 - acute kidney failure due to E.coli, shiga like toxin 0157:H7 differential: malrotation with volvulus (blood diarrhoea and acute abdominal pain in early infancy* *ULCERATIVE COLITIS*

*JAUNDICE* 😁 *within 24 hours of birth*: always pathological; mostly it's conjugated: ➖ *infections (TORCH)* ➖ *haemolytic disease* look for ↑reticulocytes, ↑LDH, ↑bilirubin but ↓haptoglobin - ABO incompatibility* - Rh: +baby but -mother; attacking Ab, hydrops foetalis if not treated - α-thalassemia: Asia, severity depends on no. of defective genes: carrier, HbH or Bart's - β-thalassemia: Mediterranean, minor (↑HbA2), major (present @6-12 months, ↑HbF) - spherocytosis AD, gallstones, requires splenectomy - G6PD deficiency: X-R, can be triggered in children by infection, food, drugs. ➖*Criglar-Nijjar* @birth, ↑↑indirect bilirubin *between 24 hours - 1 week*: always unconjugated. Mostly *physiological* but can be pathological ➖ *breastfeeding failure jaundice*: s/s of hypovolaemia e.g. sunken fontalle Phototherapy treatment for unconjugated hyperbilirubinemia only indicated when: ==>15mg/dL @ 24-48 hours ==>18mg/dL @ 48-72 hours ==>20mg/dL @ >72 hours *beyond 1 week*: ➖ *breast milk jaundice*: exclusive feeding ➖ *congenital hypothyroidism*: subtle s/s or raspy/hoarse cry ➖ *inborn errors of metabolism* e.g. G6PD deficiency (see above) ➖ *biliary tract obstruction* ➖ *hepatitis* ➖ *prolonged haemolysis* e.g. beta-thalassemia ➖ *Gilbert's*: late teens/young adults: look for signs and symptoms of kernicterus - hypotonia, seizure like activity, opisthotonus (body helps in awkward posture, rigid with severe arching of the back with the head thrown backward). Management includes immediate exchange transfusion NOTE: - direct Coombs' test uses Ab directed against human proteins (primarily immunoglobulin G [IgG] and complement [C3]) to detect whether these proteins are attached to the surface of RBCs. It is used to differentiate between immunologic (e.g., autoimmune) and non-immunologic (e.g., drug-induced) haemolytic anaemias. - indirect Coombs' test detects Ab against human RBCs in the patient's serum. The indirect Coombs' test is used in crossmatching before blood transfusions.

*CRIGER-NIJJAR SYNDROME* - presents immediately following birth - ↑↑ indirect bilirubin *BILIARY ATRESIA* - jaundice >1 week within first few weeks - obliteration/discontinuity of the CBD - ↑ALP, ↑ALT, ↑GGT - if undetected: early biliary liver cirrhosis (at approx. 9 weeks of age!); children may die within the first 2 years of life. Postoperative: cholangitis in 50% of cases and portal hypertension in >60% of cases. *Rh INCOMPATIBILITY* - maternal IgG antibodies form from a Rh-negative mother after maternal exposure to a Rh-positive foetus thus destroying the foetal RBCs - @birth; low Apgar score - complications: *hydrops foetalis* (swollen face and abdomen), anaemia, ↑bilirubin, jaundice<24hrs and a *positive direct Coombs test* - treat severe jaundice with phototherapy otherwise iron supplementation is required - an *indirect Coombs test* can be used to determine whether there are antibodies to the Rh factor in the mother's blood. Anti-D immunoglobulin prophylaxis can then be administered to Rh-negative pregnant women. If the mother has already developed antibodies from a previous pregnancy; immunoglobulin will not work and she'll require monitoring. *α-THALASSAEMIA* - prevalent in *South East Asians* - clinical symptom severity depends on no. of α defective genes: - silent carrier: asymptomatic - alpha thalassemia trait: mild haemolytic anaemia with normal RBC and RDW - if 3 defective: *HbH disease*: jaundice, anaemia @ birth, hepatosplenomegaly, - if 4 defective: *Hb Barts* (hydrops foetalis) usually incompatible with life; intrauterine ascites, cardiac and skeletal anomalies. - supportive investigations: microcytic anaemia & typical haemolytic signs (↓haptoglobin, ↑LDH, indirect bilirubin, ↑reticulocytes) - definite diagnosis with DNA genotyping and Hb electrophoresis *β-THALASSEMIA MINOR* - Mediterranean descent - usually asymptomatic, spleen not palpable, ↓Hb MCV<70, *normal RDW* (unlike iron deficiency), microcytosis basophilic stippling. - *↑specific HbA2* - aim to *re-assure*; not treatment required *β-THALASSEMIA MAJOR* - autosomal recessive with both alleles affected; *initial presentation at 6-12 months* with profound anaemia, jaundice, hepatosplenomegaly. - blood smear: teardrop erythrocytes, electrophoresis: *↑HbF* (almost 100%). Skull x-ray "hair on end" appearance - supportive management: lifelong transfusions + iron chelation medication (to prevent iron overload), hydroxyurea, folic acid (if not transfused) - definitive treatment: allogenic stem cell transplant *HEREDITARY SPHEROCYTOSIS* - autosomal dominant: defective spectrin in the RBC membrane causing haemolysis - most common in Northern Europeans - splenomegaly, jaundice, *gallstones* (unusual in children) - normocytic haemolytic anaemia, ↑reticulocytes, ↑LDH, ↑bilirubin but ↓haptoglobin - blood film shows increased spherocytes and *Howell Jolly bodies*. - *Osmotic fragility test* for confirmation however; a better test has come out: *eosin-5′-maleimide-binding test*. - complications: ↑risk of gallstones, *folate deficiency anaemia* - manage: splenectomy for symptomatic cases and children >5 years: cures the anaemia but not the disease. Also places them at increased risk of sepsis so they'd need *prophylactic penicillin*. For children <5yrs treated with daily *folic acid* *G6PD DEFICIENCY* - x-linked recessive: inborn error of metabolism predisposing to RBC breakdown - prevalent in African, Asian and Mediterraneans descent - in neonates: prolonged pathological jaundice. - for children: episodic haemolysis secondary to *triggers: drugs* e.g. primaquine/TMP-SMX, *infection, foods* (fava beans). - can develop haemolysis 2-3 days after exposure to the above: abdominal pain, scleral icterus, dark urine, splenomegaly, normocytic anaemia, ↑reticulocyte count, ↑unconjugated bilirubin, ↑LDH, ↓haptoglobin, and haemoglobinuria - investigate: neonatal screening, G6PD assay, blood film (Heinz bodies) - management: folic acid, avoidance of triggers - can lead to hypoglycaemic seizures, hyperlipidaemia, and lactic acidosis in infancy if left untreated *BREASTFEEDING FAILURE JAUNDICE* - common within the 1st week typically presenting with *hypovolaemia* unlike breastmilk jaundice classically causing moderate jaundice in an otherwise healthy infant about 2 weeks after birth. - sunken anterior fontanelle, few wet diapers/day, ↑Hct, and tachycardia) are suggestive of poor feeding. *BREAST MILK JAUNDICE* - common in exclusively breast-fed infants *CONGENITAL HYPOTHYROIDISM* - most cases congenital secondary to thyroid dysgenesis: no goitre present - 1/4000 births, W>M - s/s: subtle/non-specific in newborn because maternal source of thyroid hormones pass the placenta however; if remains untreated, can present with poor feeding, lethargy, *raspy/hoarse cry*, prolonged newborn jaundice >7 days, umbilical hernia, increased head circumference, muscle hypotonia, and macroglossia. - screened with heel stick TSH test done in 1st week of life post-3rd day (because TSH levels will be back to normal) - treatment: thyroxine replacement - complications: if left treated: irreversible mental retardation (cretinism), poor growth/development delay and short stature *SICKLE CELL DISEASE* - autosomal recessive - increased incidence in Africa and Mediterranean heritage - HbS can carry oxygen but sickles up when deoxygenating: sickling weakens the cell membrane leading to premature destruction and intravascular haemolysis. This causes *anaemia, jaundice (in 1st year of life), retarded growth +/- skeletal change, splenomegaly* - sickle shape can cause vaso-occlusion ♦️ in infancy: clog up blood flow to hands/feet leading to *dactylitis* ♦️ other bones: *pain crisis/avascular necrosis* ♦️ spleen clogging causing *sequestration* (back up of blood and significant acute drop in Hb) ♦️ cerebral: *strokes, Moya-moya disease* ♦️ coronary arteries: *silent MI* ♦️ lung blood vessels: *acute chest syndrome* ♦️ susceptibility to *encapsulated bacteria* - acute management of vaso-occlusive crisis: IV fluids, oxygen, analgesia, antibiotics (if suspected infection), correct any acidosis present, blood transfusions - chronic management: hydroxyurea (increases foetal HbF preventing sickling), folic acid, penicillin prophylaxis, vaccinations (pneumococcal, meningococcus, H.influenzae B) *BILIARY CYST* - commonly seen in patients of Asian descent - dilations of the biliary tree or as dilated masses that communicate with the biliary tree resulting in cholestatic jaundice and, if left untreated, increases the risk of cholangitis and cholangiocarcinoma. - surgical excision required, followed by the creation of a biliary-enteric anastomosis with a Roux-en-Y hepaticojejunostomy. *GILBERT'S SYNDROME* - *late teens/young adult age* - defective gene leads to poor bile excretion causing a mild system excess: fatigue, scleral icterus but no generalised jaundice There are no other signs or symptoms - usually precipitated by stress, fasting or dehydration.

*STRIDOR* ➖ *INSPIRATORY*: above epiglottis: - *croup*: <6 months, parainfluenza, barking cough, stridor worse @ night & resolves with rest, sleepless sign, tx: cool mist, oral steroids, neb epinephrine - *congenital laryngomalacia*: <6 months, worse in supine - *retropharyngeal abscess* ➖ *EXPIRATORY*: below epiglottis - *congenital tracheomalacia*: 1-2 months, barking cough - *bacterial tracheitis* precedes an URTI, severe version of croup with brassy cough - *epiglottitis*: drooling, dysphagia, dysphonia, distress, tripod position ➖*others*: - *vascular ring* (rare): stridor in relation to regurgitation of foods

*CROUP* - aetiology: parainfluenza (75%); common in children - aged <6 years - s/s: *barking like/seal-like cough, inspiratory stridor; worse at night & resolves with rest* (moderate cases) and sternal recession, agitation, lethargy, fatigue, pallor, cyanosis, tachycardia, tachypnoea - investigate: CXR: *steeple sign* (subglottic airway narrowing) - management: supportive o2, *cool mist, oral dexamethasone* (0.15mg/kg or give IM if unwell to decrease laryngeal oedema), budesonide nebuliser - in severe cases: *nebulized epinephrine* - if presentation v.severe, toxic appearance, high grade fever or doesn't respond to croup treatment; strongly consider bacterial tracheitis. ⚠️ *BACTERIAL TRACHEITIS* - aetiology: s.aureus, h.influenzae, etc. - most commonly *preceded by an URTI* such as croup. - s/s: similar to croup but more severe: *high fever*, toxic appearance, brassy cough, stridor, rapid progression to respiratory distress and hypoxia - investigate: endoscopy definite - manage: intubate, IV antibiotics. Note: croup treatment does not work here. *CONGENITAL LARYNGOMALACIA* - most common congenital abnormality in the upper airway; larynx more collapsible on inspiration leading to *inspiratory stridor* - occurs within a few weeks of birth, peaks @ 6 months and disappears 12-18 months as throat muscles strengthen over time - larynx more collapsible on inspiration leading to inspiratory stridor. Most common cause in an infant. Usually *worse in supine or crying* - laryngoscopy: omega shaped epiglottis - 90% cure by themselves by age 2. if persists; surgery *RETROPHARYNGEAL ABSCESS* - headache, fever, dysphagia, neck spams, drooling, inspiratory stridor, *unilateral swelling of the posterior pharyngeal wall and inability to extend the neck* develop after history of an ongoing URTI - presence of tachypnea, laboured breathing with accessory muscle use, and inspiratory stridor indicate severe respiratory distress and initial step is for endotracheal intubation before blood cultures and administering IV broad spectrum empirical antibiotics and surgical needle drainage. - lateral x-ray: widened prevertebral space; can help confirm diagnosis *CONGENITAL TRACHEOMALACIA* - s/s: *expiratory* stridor, barking cough occurring within the *first 1-2 months* after birth - bronchoscopy for diagnosis ⚠️ *EPIGLOTTITIS* - aetiology; s.pneumoniae, s.pyogenes, h.influenzae - s/s: 4 D's: *d*rooling, *d*ysphagia, *d*ysphonia, *d*istress, stridor, tripod position, anxious, fever - *TRIAD3* mnemonic: *T*ripod position, *R*espiratory distress symptoms, *I*nspiratory stridor, *A*nxiety and airway compromise, *D*ysphonia: difficult speaking, *D*ysphagia: difficult swallowing, *D*rooling: due to odynophagia - investigations: only if not in distress: X-ray of the neck will be helpful to prove epiglottitis management: - avoid examining the throat. - *secure the airway*: immediate intubation, o2, ventilation, fluids, analgesia and antibiotics (IV cefuroxime). - once patient is stable; investigations can occur: swabs, direct fibreoptic laryngoscopy and bloods including cultures. *FOREIGN BODY ASPIRATION* - consider in infants (not neonates) - does *not* present with fever or rhinorrhoea so rule this out in a question - look for ↓air entry in one lung and perform a CXR. *VASCULAR RING* - stridor and wheezing may be heard; worse when agitated but better when in supine - rare; *stridor related to regurgitation of food*, and/or unintended weight loss. - surgical division required

*HIP PAIN IN CHILDREN* ⚠️ always rule out septic arthritis or osteomyelitis in children! ➖ developmental dysplasia of the hip: painless limp when starting to walk @ 9-12 months ➖ transient synovitis of the hip: 2-10yrs common after an URTI ➖ Perthes' disease: 4-10yrs, reduced internal rotation/abduction painful, antalgic gait ➖ slipped upper femoral epiphysis: similar to Perthes disease with reduced internal rotation only and child is older @ 6-10yrs ➖ sickle cell disease (avascular necrosis) ➖ femoroacetabular impingement (anterolateral hip pain with painful internal rotation) ➖ trochanteric bursitis (lateral hip pain worse with standing and abduction) if 12-13 month old infant who is still unable to walk, rule out global delay and/or assess if a hip problem - can they respond their own name/cry when parent not around (social), follow 1-step commands and say 2 words (S&L), near pincer grasp (fine motor): all of which are relevant to 12-13 month old infants workup for older infants and children 1) ask about red flags: - pain out of proportion to degree of inflammation - pain worse at night/@rest - fever, night sweats, weight loss - erythema, pinpoint pain/tenderness 2) ask if any history trauma, previous surgeries, previous episodes? 3) examine: able to weightbear? is the joint red, hot, swelling and/or tender? assess ROM, limb weakness, sensation and pulses.

*DEVELOPMENTAL DYSPLASIA OF THE HIP* - *presents @ birth* - risks: *F*rank breech (most important), *F*emale (8x more!!) *F*amily history, *F*irst born, left hip, oligohydramnios - painless limp when starting to walk (9-12 months). Parents may notice leg length discrepancy, limp, trouble crawling/walking, waddling, and restricted ROM. - s/s: assessment of child at 6 weeks; affected leg shortened (results in asymmetry in skin folds), limited abduction angle of the flexed hip - examination: *Barlow's test*: checks if hips are dislocatable. *Ortolani test*: checks if hips are dislocated aiming to relocate hip back into position: palpable clunk will be felt if hip successfully reduced - if suspected, U/S to confirm. - management depends on the age => @ <6 months: pavlik harness in abduction and flexion => @ >6 months: closed reduction with GA, hip spica cast => @ > 2 years: open reduction *TRANSIENT SYNOVITIS OF THE HIP* - *2-10 years* of age with M>F commonly occurring after an URTI with the R>L - several days history of hip +/- knee pain, difficulty weight bearing/refusal to use limb, low grade fever. There is full passive ROM, no erythema or tenderness +/- left in abducted externally rotated position - x-ray: normal, bloods may show mildly elevated inflammatory markers - U/S may show transient effusion though this is not a diagnostic test you would request if diagnosis suspected. - advise analgesia and to perform activities as tolerated. Re-assure it typically resolves in 7-10 days *PERTHES' DISEASE* - peaks *4-10yrs* with M>F - *antalgic gait* (on weight bearing leg), pain in the hip, *restricted ROM internal rotation and abduction*. Bilateral involvement in ∼15% of cases. - due to *idiopathic avascular necrosis* of the femoral head - XR (only appears late): joint space narrowing, flattened head of femur, osteonecrosis. If negative but clinically suspected; request MRI. - management: mild cases and younger children <6yrs: *limited weight bearing, physical therapy*. If ROM worsens; *cast and brace* before surgery (*femoral osteotomy*) which aims to ensure the femoral head remains well seated in socket. - usually heals in 2-3 years *SLIPPED UPPER FEMORAL EPIPHYSIS* - v.similar to Perthes disease but this one *occurs in older children peaking in puberty teenage years*: M>F, typically in obese, tall and underdeveloped children - chronic pain in the the *groin and anterior hip +/- knee pain* progressing to a *limp*. Bilateral in 20% with L>R - examination: *positive Trendelenburg sign*. tenderness over joint capsule with *reduced ROM particularly internal rotation*. - XR shows "frog leg", *posterior inferior displacement of the femoral head in relation to the neck*. - management: surgery - complications: avascular necrosis, premature OA *SICKLE CELL DISEASE* - avascular necrosis is a common complication of Perthes' disease (4-10yrs) and *sickle cell disease* (pubertal/teenage years of life). - always suspect sickle cell disease in an African-American child presenting with groin pain and bone tenderness with no systemic symptoms. - s/s: subacute hip pain with lack of systemic symptoms are signs for avascular osteonecrosis, which occurs due to trabecular bone infarction from RBC sickling and vaso-occlusion. The femoral head is commonly affected as a result of poor collateral blood supply. *FEMOROACETABULAR IMPINGEMENT*: extra bone grows (bone spurs) along the hip joint causing friction eventually leading to pain and limited activity. S/S: gradual *anterolateral hip joint pain* exacerbated by pivoting laterally and sitting from standing. ==> physical exam: "FADIR test": flex, adduct then internally rotating the hip will reproduce the pain. *TROCHANTERIC BURSITIS*: lateral thigh pain and tenderness with no radiation down the leg. Worse when standing up and with abducting the hip against resistance.

*PROBLEMS WALKING / ISSUES WITH GAIT* *MULTIPLE FALLS* note: children are usually able to walk (with support) by age 12-13 months - Duchenne muscular dystrophy (age<3yrs) - Becker muscular dystrophy (teens) - Friedreich ataxia (AR, pubertal yrs) - acute cerebellitis (acute onset, <6yrs) - accidental medication ingestion - peripheral nerve demyelination - posterior fossa malignancy

*DUCHENNE MUSCULAR DYSTROPHY* - proximal muscle weakness @ <3yrs presenting with a waddling gait, *Gower's sign* (using their hands to move from sitting to standing position) - associated with cardiomyopathy - bloods: ↑↑CK (50-100x), Western Blot dystrophin gene detection - manage: physiotherapy, steroids (can slow generation), genetic counselling - complications: usually in wheelchair by age 12 *BECKER MUSCULAR DYSTROPHY* - mutation leads to a missense dystrophin causing symptoms similar to Duchenne muscular dystrophy but milder and with a later age onset (10-20 years) *FRIEDREICH ATAXIA* - autosomal recessive disorder - progressive degeneration due to intramitochondrial accumulation of iron. 🔸 spinocerebellar tract (cerebellar signs: ataxia, nystagmus, dysarthria) 🔸 lateral corticospinal tract (spasticity result in deformities such as hammer toe, pes cavus, and kyphoscoliosis) 🔸 dorsal column (impaired proprioception and vibration) 🔸 dorsal root ganglia - *bilateral lower limb weakness, progressive ataxia and UMN lesions are key signs* - age of onset in pubertal years - supportive tests: nerve conduction studies showing absent or reduced sensory nerve action potentials - MRI: cervical spine atrophy with minimal cerebellar atrophy. - definite investigation: genetic testing: *GAA unstable expansion on chromosome 9* - most end up in *wheelchair* by teenage years - the most common cause of death is *diabetes* and *hypertrophic cardiomyopathy*. - 5 hydroxytryphotan may help with ataxia symptoms *ACUTE CEREBELLITIS* - typically unvaccinated <6yrs age following an acute febrile viral illness - acute inflammation of the cerebellum most commonly following a viral infection; most commonly VZV. Others include coxsackievirus, echovirus, enteroviruses, EBV, HSV I, measles, rubella, mumps and parvovirus B19) - sudden onset of cerebellar dysfunction. - symptoms may include fever, tremour, nystagmus, truncal ataxia, dysarthria, gait disturbance, loss of fine motor control, dysmetria, and dysdiadochokinesia. *ACCIDENTAL MEDICATION INGESTION* - identify with history but also slurred speech and altered mental status *PERIPHERAL NERVE DEMYELINATION* - e.g. Guillain Barre syndrome but this should also present with paresthesias, weakness, and areflexia *POSTERIOR FOSSA MALIGNANCY* - more of a chronic onset - could also manifest with ataxia with signs of increased intracranial pressure (e.g. headache, nausea, lethargy, bilateral optic disc swelling) others: subacute sclerosing panencephalitis (see measles)

*BLEEDING DURING PREGNANCY AND LABOUR* - ectopic pregnancy (<12 weeks of pregnancy) - miscarriage (mostly 1st trimester) - placenta previae (painless bleed >20 weeks) - placental abruption (most common cause of bleed in 3rd trimester with painful bleed usually @ 25 weeks) - vasa previae (painless bleed + foetal distress) - placenta accreta - labour - postpartum haemorrhage

*ECTOPIC PREGNANCY* - risk factors: previous ectopic pregnancy (15% chance of recurrence), history of surgery (tubal surgery), PID, multiple sex partners, smoking, current IUD, IVF pregnancy, uterine fibroids/adhesions - *s/s unilateral lower pelvic pain within 12 weeks of pregnancy/amenorrhoea* - if rupture: massive internal bleeding into abdominal cavity; irritates peritoneum causing shoulder pain. - *investigate* if stable: bimanual exam: rules out if any cervical sign and if an adnexal mass can be palpated, beta-hCG levels to check if pregnancy - transvaginal U/S: gold standard diagnostic test - medical tx: methotrexate if completely asymptomatic: very rarely especially due to multiple contraindications but has the best results for future fertility. - if stable: surgery: salpingostomy: removal of mass from fallopian tube; helps preserve fertility. - if unstable: salpingectomy (fallopian tube removal): indicated if unstable and bleeding present in pelvis; fertility will be affected of course. - require β-hCG titres weekly until they reach non-detectable levels before getting pregnant again *MISCARRIAGE* - definition: loss of pregnancy <23 weeks however, 85% occur in the 1st trimester; most commonly at 6 weeks of gestation. - vaginal bleeding, which may be followed by cramping and pain in the lower abdomen. Types include: - *inevitable*: cervix closed initially but opens when products start to expel. Increased bleeding/cramping, ROM. - *incomplete*: extremely heavy bleeding and cramping, cervix is OPEN, so grey tissue and blood clots pass through the os. Uterine contents must be removed either via D&C or prostaglandins and oxytocin. - *complete*: bleeding/cramping followed by passage of placenta and resolution of symptoms. Cervix is closed. Nothing more needs to be done. *CERVICAL INSUFFICIENCY* - painless discharge >20 weeks - risks: history of losing preterm labour, previous miscarriages, D&C procedures, birth defects and DES exposure - investigate: transvaginal U/S to assess cervix length required to establish a diagnosis: must be done >14 weeks. - management: give weekly hydroxyprogesterone from the 16th week to reduce the risk of preterm birth. Cervical cerclage when length is <25mm *PLACENTA PREVIAE* - 1/200 births - low lying placenta +/- covering cervix - *PAINLESS* low volume vaginal bleeding beyond 20 weeks of gestation. There will be no painful uterine contractions. Foetal heart sounds are re-assuring and uterine examination is normal (unlike abruption). - *risk factors*: prior uterine surgery (c-section), advanced maternal age >35yrs, gestational HTN, multiparity, multiple gestation, smoking - *management:*: repeat transvaginal scan at 32 weeks to confirm as 90% of placentas move back upward - DRE, vaginal exam and intercourse is contraindicated until placental previae is ruled out. Speculum exam followed by diagnostic US is necessary. - if GA>37 weeks and profuse bleeding or if there is foetal distress; delivery should be done immediately via by caesarian section *PLACENTAL ABRUPTION* - placental separation from uterus usually @ 25 weeks of gestation - most common cause for vaginal bleeding in the 3rd trimester - risk factors: smoking, cocaine use, trauma, HTN - most common cause for DIC in pregnancy (20% of abruptions); risk is higher for severe cases - severity: mild: no foetal distress, moderate: foetal distress while severe: foetal death - s/s: *PAINFUL* vaginal bleeding (80%), painful uterine contractions, lower back pain +/- foetal distress depending on severity - external examination: hard, tender and rigid uterus. Diagnosis is mostly clinical as U/S is not accurate but should still be performed. - complications: foetal complications include premature birth, IUGR, stillbirth whilst maternal complications are DIC, haemorrhagic shock, anaemia, AKI, Sheehan's syndrome (pituitary necrosis) - management: depends on presence of foetal compromise, the degree of bleeding and maternal haemodynamic status. ♦️ if abruption is minor: monitor in hospital: - vitals, urine output, blood loss, blood work and crossmatch and continuous foetal heart monitoring. - ensure baby delivered @ 38 weeks. If all stable, induce labour @ 38 weeks when the baby is mature. This helps reduce the risk of further bleeding. If before 37 weeks and labour starts; give tocolytics for delay till infant mature. ♦️ if abruption is moderate/severe: - hydrate, restore blood loss, foetal HR monitoring. - vaginal delivery if no foetal distress otherwise immediate caesarian section regardless of gestational age to prevent hypoxia. DELIVER BY C-SECTION ONLY IF FOETAL DISTRESS DETECTED AND REGARDLESS OF GESTATIONAL AGE. *VASA PREVIAE* - foetal blood vessels cross or run near the internal opening of the uterus - 1 in 5000 pregnancies; most common with twin pregnancies - *PAINLESS* vaginal bleeding and *FOETAL DISTRESS* - foetal complications: PROM, perinatal mortality 50% - to help determine if blood is from the foetus or mother; an Apt test is performed (NaOH mixed with blood), - emergency caesarian section as blood is from the foetus *LABOUR* - regular painful contractions, frequent (2 in 10 minutes), cervix >2cm dilated and >80% effaced associated with vaginal discharge that's pink, brown or slightly bloody. - called a "bloody show," this discharge is caused by the release of a mucous plug that blocks the cervix *PLACENTA ACCRETA*: - @ stage 3 of labour when the placenta has grown too deeply into the uterine wall causing *postpartum haemorrhage*. - more common in those with a previous c-section, age>35 and are multiparous. - not always detected with U/S in prescreening - manual exploration reveals difficulty with separation. - treatment is *immediate hysterectomy*. *POSTPARTUM HAEMORRHAGE* - definition: >500ml loss after vaginal delivery or >1L loss after c-section, >10% drop in haematocrit, changes to mothers observations - identify shock after delivery (tachycardia, tachypnoea, low BP) - causes: the *4 T's* ==> *T*ONE (most common by 75%) - uterine atony: soft/spongy --> slow steady loss of blood immediately after delivery; uterus fails to contract after birth so placental arteries don't clamp down. Causes: multiple pregnancies, twins/triplets, macrosomia, polyhydramnios, prolonged labour, oxytocin use, magnesium use, full bladder, anaesthetics - management: manual uterine exploration followed by bimanual massage and compression of the uterus. ==> *T*RAUMA - medical instruments, lacerations, inversion, rupture, incision from caesarean section; sometimes bleeding localised leading to haematoma and thus severe pain ==> *T*ISSUE - placental fragments retained in the uterine cavity - placental delivery is essential to allow the uterus to contract and reduce blood loss; usually in 90% this is completed within 15 minutes. Failure to deliver within 30 minutes is considered "retained placenta". - if there is no significant blood loss >30 minutes; more uterotonics (oxytocin, carboprost) can be given with watchful waiting - note that retained placental fragments usually cause delayed haemorrhage beyond the first 24 hours after delivery - if significant haemorrhage >30 minutes; the placenta needs to be removed manually under anaesthesia with aid of IV oxytocin - if this is the case of placenta accreta: whereby the placenta has grown too deeply into the uterine wall. Manual exploration should reveal difficulty with separation. More common in those with a previous c-section, age>35 and are multiparous. Treatment is immediate hysterectomy. ==> *T*HROMBIN - blood clotting disorder can lead to DIC preventing clots from forming

*PRURITUS / ITCHING* note: primary biliary cholangitis and polycythaemia vera occur in adults

*ENTEROBIASIS* - nocturnal pruritus in a toddler or preschooler; particularly around the anal region - investigate with perianal cellophane-tape examination; detect eggs with microscopy *SCABIES* *ATOPIC DERMATITIS*: - dry, red, itching, bleeding, oozing, cracking, thickening of the skin in the flexures (or extensors if infant). - consider the major criteria for diagnosis: chronic/recurrent, history of atopy, itching, location characteristic (extensors for infants, flexors for older children). - emollients are the first-line *CONTACT DERMATITIS*: irritant or allergic - allergic: type IV hypersensitivity: 12-48 hours after exposure; papules, oedema, vesicles, itching. Patch test for confirmation. *PSORIASIS*

*RASHES* - erythema toxicum - post-vaccination rash - measles - mumps - rubella - chickenpox - Kawasaki disease

*ERYTHEMA TOXICUM* 👶 - appears *within the first week* - maculopapular rash progressing to pustules appears on the trunk and proximal extremities, but the palms and soles are typically spared. - condition is benign - re-assure: complete resolution of the rash occurs within 7-14 days. *POST-VACCINATION RASHES* - live attenuated vaccines e.g. MMR or varicella can cause a mild form of the disease, usually within 1-3 weeks of administration and is caused by replication of the attenuated vaccine strain *MEASLES* - prodrome of *cough, *c*orzya and *c*onjunctivitis, fever, *koplik's spots* (white spots of red background found on buccal mucosa of cheeks) + maculopapular rash eruption 3 days after initial s/s. - v.rare: *subacute sclerosing panencephalitis* from 7-10 years after infection; degenerative disease of the CNS that starts with personality changes, memory loss, strange behaviour progressing to myoclonic jerks, ataxia, plegia then death within a year. It is more common if measles is contracted <2yrs - positive serology for measles IgM - management for infective patient: supportive care, vitamin A. Infection usually improves within 7-10 days. *Avoid other young children (schools/work) and pregnant women for at least 4 days from when the measles rash first appeared* - non-immunised contacts require the measles vaccine within 72hr of exposure (if >6 months of age) or human normal immunoglobulin if within 6 days of exposure (for non-immunised pregnant women and infants <6 months) - ensure isolation and report to Public Health Prevention - prevention: MMR vaccine @ 12-13 months (1st dose) and @ 3 years and 4 months (2nd dose). - *vitamin A* should be given to all those with acute measles because it helps prevent complications such as otitis media, viral pneumonia, encephalitis, and subacute sclerosing panencephalitis. *MUMPS* - fever, malaise, *tender enlargement of parotids* - pink maculopapular rash may develop - can also cause *orchitis* usually 1-2 weeks after parotitis typically unilateral, but may involve both testicles. - complications: orchitis can result in *testicular atrophy* and subsequent *impaired infertility* in up to 50% of cases, making it a feared complication. - only way to prevent mumps orchitis is vaccination against mumps virus. *RUBELLA* / *GERMAN MEASLES* - mild and may pass unrecognised - birth defects in pregnant women (Rubber Ducky I'm so Blue) - flu-like symptoms before onset of a pink maculopapular rash starts behind the ears and spreads to the head, neck and body. The rash improves in a week. *PARVOVIRUS B19* / 5th disease - *slapped cheek*: rash starting on the cheeks spreading to the rest of the body - if pregnant: can causes spontaneous abortion or hydrops foetalis secondary to aplastic anaemia. - investigate with serology or viral PCR. - if hydrops occurs; consider foetal transfusion. *CHICKENPOX* - fever, pruritic rash, crops of spots (macule-->papule-->vesicle-->dry and scab over - re-assure; mild and self-limiting. Advise to keep infected children away from the vulnerable e.g. pregnant women, daycare centres until all lesions have scabbed over and to try *calamine lotion* to ↓itching, keep child fingers short. - oral acyclovir only indicated in children <12yrs who are high risk of developing complications (immunocompromised) *HAND, FOOT AND MOUTH DISEASE* - coxsackie A affects primarily infants and young children - maculopapular +/- vesicular rash that involves the hand🖐, feet (involve palms/soles), legs and buttocks - associated with herpangina and mouth ulcers 👄 - self-limiting disease is symptomatic *SCARLET FEVER* - several days after a strep B infection; an acute onset of fever, sore throat, *strawberry tongue* 👅 and a *sandpaper like blanched rash* that may be pruritic. It begins in the neck before spreading down and outward and lasts for 7 days. Blanches with pressure. - initial s/s: fever/chills, sore throat, white coating on the tongue, cervical lymphadenopathy - later s/s: pharyngeal erythema, strawberry tongue, red/flushed appearance of the cheeks. - treat with oral penicillin V or a macrolide if allergic - after 24 hours of antibiotic therapy; child is no longer infectious *KAWASAKI DISEASE* - fever persisting for >5 days + 4 or more of the following (A) bilateral non-exudative conjunctivitis (B) diffuse mucous membrane erythema (*strawberry tongue* 👅) also; *fissuring of the lips*👄 is unique and differentiates it from scarlet fever or toxic shock syndrome. (C) polymorphous rash (primarily on the trunk) (D) cervical lymphadenopathy <1.5cm (E) peripheral oedema (sausage fingers & toes) + desquamation - investigate: *ECHO* ❤️ is always the first initial step in suspected cases with follow ups @ 2 weeks then 6-8 weeks - management: prevent coronary artery aneurysms by *administering IV immunoglobulin and aspirin* - children with aneurysms may require chronic anticoagulation mnemonic: "CRASH" and Burn: *C*onjunctivitis,*R*ash, *A*denopathy >1.5cm, *S*trawberry tongue, *H*and swelling/erythema, peeling but this is late. (>90%) and *Burn*... >5 days of fevers. <see picture>

*SHORT STATURE* - chronological age = standard age - height age = depends on percentile - bone age = carpal bones bilateral wrist x-ray ➖ *normal age* - familial ➖ *delayed bone age behind height/chronological* - constitutional ➖ *markedly delayed bone age relative to height and and chronological age* - endocrine disorders: congenital hypothyroidism, GH deficiency (e.g. from craniopharyngioma), congenital adrenal hyperplasia, steroid excess: there will markedly delayed bone age relative to height and and chronological age ➖ *bone & height age delayed* - systemic diseases: e.g. CF, CKD, HIV, IBD, coeliac disease, cyanotic heart disease, steroid excess, juvenile arthritis, rickets ➖ height age delayed relative to bone age - IUGR, chromosomal (Down's, Turner's, Noonan), skeletal dysplasia, psychological e.g. neglect

*FAMILIAL* - normal development; skeletal age consistent with chronological age *CONSTITUTIONAL*: - *delayed skeletal age* (2-4 years difference) with normal height and chronological age - short stature & delayed puberty - usually family history. - re-assure; just a "late-bloomer" growth pattern with expected normal development. Follow up is generally all that's needed otherwise short term therapy with androgen/oestrogen for delayed puberty *CONGENITAL HYPOTHYROIDISM* - untreated children develop cretinism (delayed skeletal age, short stature, intellectual disabilities) *GH DEFICIENCY* - caused by hypopituitarism with ↓bone density and muscle atrophy *CONGENITAL ADRENAL HYPERPLASIA* - 21β-hydroxylase deficiency - vomiting and dehydration during first weeks of life *STEROID EXCESS* - consider in those on asthma treatment *GASTROINTESTINAL DISEASE*: - inflammatory bowel disease or coeliac disease - bone and height ages are equivalent but delayed behind chronological age *RICKETS* - vitamin D deficiency - disproportionate long bones (due to defective growth plate mineralisation), *delayed closure of the anterior/posterior fontalle* - s/s: frontal bossing, beading of the ribs, widened wrists, bowing of the legs, and erosion of tooth enamel - perform bloods to rule this out - d/d: genu varum deformity (bow legs) can be normal if <2yrs and typically corrects as the infant learns to walk and bear more weight on the lower extremities. Rule out rickets. *IUGR* - height age delayed relative to bone age *TURNERS SYNDROME* 45XO - height age delayed relative to bone age - low set ears, neck webbing, high arched palate, low set ears, low posterior hair line, widely spaced nipples, sausage shaped fingers/feet (due to lymphedema). - primary amenorrhoea, delayed puberty, streaked ovaries - infertility, *↑FSH ↑LH but ↓oestrogen* (due to primary ovarian failure; a reason for delayed puberty) - 30% develop hypothyroidism or other autoimmune disorders - deafness, heart problems: coarctation of the aorta (x-ray of chest shows inferior rib notching) - manage with GH supplementation and oestrogen (to initiate puberty) *NOONAN SYNDROME* - height age delayed relative to bone age - Turner's syndrome in males - unusual facial facies: wide distanced eyes, broad forehead, short stature, webbed neck - congenital heart disease *SYSTEMIC DISEASE* e.g. CF, CKD, HIV, IBD, cyanotic heart disease - bone and height are equivalent but lack behind chronological age *OTHERS*: - drugs (steroid, alcohol), malnutrition

*ABDOMINAL PAIN* - functional constipation

*FUNCTIONAL CONSTIPATION* - common cause for children @ pre-school age - abdominal pain without any other s/s aside from history of delayed opening of bowels - examination: mild distension, hyperactive BS - manage with osmotic laxatives such as *polyethylene glycol* for 3-6 days. If s/s persist; administer an enema - once bowels opened, continue polyethylene glycol for 2-4 weeks - other measures: adequate fibre, oral fluids, and toilet training *HYPOGASTRIC* ⇥ urinary: UTI (positive urine dip), interstitial cystitis (ulcers), ⚠️testicular torsion (acute, severe testicular swelling), urinary retention (distended) ⇥ gynaecology: PID *PERIOD PAIN* - d/d: a girl displaying cyclical pain but has not yet attained menarche should raise the possibility of an *imperforate hymen* or *transverse vaginal septum*. Look for a blue bulging vaginal mass ⇥ obstretics: ⚠️placental abruption, miscarriage

*SORE THROAT* - herpetic gingivostomatitis - herpangina - diphtheria - oral thrush - acute pharyngitis - acute tonsillitis - infectious mononucleosis (glandular fever) *centor score/McIsaac decision rule* - *C*ough is absent - *E*xudative tonsils - *N*odes; cervical LN enlarged, tender - *T*emperature >38

*HERPETIC GINGIVOSTOMATITIS* - mainly in children *1-6yrs* 👶 - caused by HSV-1 therefore multiple painful ulcerations on perioral skin and oral mucosa, especially on the lips, inner cheek, soft palate, and tongue *HERPANGINA* - onset *3-10yrs* and infections occur most frequently in summer and fall. - sore throat, fever, *multiple vesicles in the posterior oropharynx* + tonsil erythema - coxsackie A viral related which also causes *hand, foot, and mouth disease* - typically lasts 7-10 days; supportive treatment only. *DIPHTHERIA INFECTION* - white-grey pseudomembrane deposit consisting of necrotic tissue with tonsillar inflammation *ORAL THRUSH* - pseudomembranous stomatitis with white plaques *ACUTE PHARYNGITIS* - viral 80%, bacterial (mainly GAS). Others: M.pneumoniae (older children, diphtheria, candida - if centor score 1-2: paracetamol, NSAIDs, warm salt water gargling and consider *Difflam™ Spray* (fast acting sore throat relief) - if centor score 3-4; perform rapid strep test (in US/Canada only with results within 15 minutes): if positive, perform throat cultures and treat empirically with antibiotics. - if centor score 4: treat with antibiotics => *phenoxymethylpenicillin 500mg QDS for 10 days*. => *clarithromycin 250-500mg BD* or *erythromycin (pregnancy) *250-500mg QDS for 5 days* are alternatives. - complications: AOM, sinusitis, mastoiditis, sepsis, peritonsillar abscess/quinsy, immune mediated complications (if GAS) e.g. ==> *SCARLET FEVER*: several days afterward; an acute onset of fever, sore throat, *strawberry tongue* and a non-pruritic, blanched rash ==> *RHEUMATIC FEVER*: can develop 2-4 weeks after an URTI: *migratory joint pain and swelling*, *fever*, chorea, chest pains, *new murmur (MR)*, rarely; *painless nodules* (usually appear at the back of the forearm) and *erythema marginatum* (pink rings with central clearing rash found on the trunk and limbs) ==> *GLOMERULONEPHRITIS*: can take 10 days to develop; children often noticed *cola coloured urine*. ==> *GUTTATE PSORIASIS*: can develop in 10 days: an acute onset of *itchy red spots on the trunk and proximal extremities* - refer to ENT if neutropenia, persistent unexplained sore throat for > 6 weeks, persistent unilateral tonsillar enlargement. Same-day admission is needed if there is trismus, drooling, evidence of quinsy on examination, symptoms suggestive of meningitis. *INFECTIOUS MONONUCLEOSIS* - s/s: malaise, fatigue, fever, sore throat, abdominal pain (often LUQ), headache, myalgia - physical: generalised non-tender lymphadenopathy, pharyngitis +/- hepatosplenomegaly - investigate: Monospot® test (antibody test: characteristically detects a EBV reaction with horse red blood cells. It is 85% sensitive), EBV titres, throat culture (rules out streptococci) - management: rest, fluids, salt gargles, analgesia for sore throat - most cases resolve within 1-2 weeks though fatigue can last for months - advise to avoid contact sport for at least 3 weeks after symptom onset due to risk of splenic rupture. Guillain-Barré syndrome also a complication

*PRETERM INFANT COMPLICATIONS* - hyaline membrane disease (RDS) - interventricular haemorrhage - hydrocephalus - necrotising enterocolitis - iron deficiency anaemia - bronchopulmonary dysplasia - patent ductus arteriosus - retinopathy of prematurity - periventricular leukomalacia and cerebral palsy - other neurological issues

*HYALINE MEMBRANE DISEASE* - most common in *pre-term* infants (due to lack of surfactant); severity correlates with gestational age. Other causes: low birth weight, maternal diabetes, hypothermia - CXR: bronchograms, reticulogranular pattern, decreased lung volume. - prevention: antenatal betamethasone 12mg IM: 2 doses 24 hours apart given at 24-34th week of gestation - after birth: *ventilation (CPAP if RR>60) is first line*, but if respiratory insufficiency persists, intubation with mechanical ventilation + O2 inhalation. Administer endotracheal surfactant replacement, - supportive: fluids, nutrition, antibiotics - differential diagnosis: TTN, MAS, pleural effusion, pneumothorax, congenital lung malformations *INTERVENTRICULAR HAEMORRHAGE* - most commonly occurs within 5 days of birth with low birth weight (<1500g) or premature infants (< 32 weeks' gestation). - *bulging anterior fontalle*, irregular respirations, lethargy, hypotonia, irregular eye movements, seizures - cranial U/S for diagnosis - vitamin K shot given @ birth for prevention *DUODENAL ATRESIA* - bilous vomiting within 24hrs of birth, abdomen distension, scaphoid abdomen. AXR: double bubble sign. *ANAEMIA OF PREMATURITY* - impaired EPO production common - poor oxygen supply leads to *apnoea* - presents within 3-12 weeks of life - identify with normocytic anaemia pattern *IRON DEFICIENCY ANAEMIA* - preterm infants have lower iron stores than infants born at term and due to their rapid growth require more iron. - breast milk does not contain enough iron therefore daily iron supplementation necessary until 6 months of age - identify microcytic anaemia on bloods *HYDROCEPHALUS* - buildup of CSF in the ventricular system leading to increased pressure - causes: spina bifida (meningocele or myelomeningocele), prematurity, meningitis: (re-absorption issue), brain tumour - s/s: bulging anterior fontalle, macrocephaly, irritable, poor feeding, lethargy, vomiting, scalp vein dilation, *sunset sign (forced downward deviation of eyes)*, episodic bradycardia, apnoea, UMN signs - cranial U/S if <2yrs; it's the first line diagnostic test whilst the anterior fontalle is still open (expected to close by 2nd year of life). - MRI: symmetrical enlargement of the ventricles - manage in short term with spinal taps or diuretics - long term and most effective management is *ventriculoperitoneal shunt* or ventriculostomy *NECROTIZING ENTEROCOLITIS* (see vomiting in neonates) - risks: maternal cocaine, hyperosmolar feed, formula - bilous vomiting within 2-3 weeks of birth +/- rectal bleeding - AXR: dilated bowel - supportive therapy with NG decompression, TPN and antibiotics - if s/s of peritonitis/acidosis; immediate resection of necrotic bowel *BRONCHOPULMONARY DYSPLASIA* - chronic lung disease secondary to *prolonged mechanical ventilation* and oxygen therapy for neonatal RDS - persistence of symptoms similar to NRDS (e.g., tachypnea, grunting, nasal flaring); episodes of desaturation - CXR: diffuse, fine granular densities - manage with controlled oxygenation, diuretics, consider glucocorticoids - palivizumab (short-acting monoclonal antibody) provides passive immunity to a complication of bronchiolitis caused by RSV. It is only indicated in severe bronchopulmonary dysplasia. *PATENT DUCTUS ARTERIOSUS* - remains patent with prostaglandins - close this with NSAIDs *RETINOPATHY OF PREMATURITY* - abnormal vessel proliferation extraretinal neovascularization - complication of blindness - only can be treated if advanced stage with laser coagulation *PERIVENTRICULAR LEUKOMALACIA* - symmetrical, periventricular injury of cerebral white matter (necrosis and cystic formation) caused by ischaemia and/or infection. - presents with spastic cerebral palsy (see developmental disorders), intellectual impairment, and visual disturbances. - diagnosis: U/S, cranial CT, or MRI. *OTHER NEUROLOGICAL DISORDERS* - e.g. cerebral palsy, learning disabilities (e.g. ADHD, dyslexia, dysgraphia and dyscalculia) *OTHERS*: infection, sepsis, anaemia of prematurity (low erythropoietin), neonatal RDS, problems of homeostasis: apnea, bradycardia, hypothermia

*RESPIRATORY DISTRESS IN A NEWBORN* 👶 s/s: tachypnoea>60, tachycardia>160, grunting, nasal flaring, central cyanosis - hyaline membrane disease - transient tachypnoea of the newborn - meconium aspiration syndrome - neonatal CPAP should be initiated in neonatal respiratory distress syndrome when the RR is > 60/min. This condition usually affects premature infants who have insufficient surfactant levels, which causes increased alveolar surface tension and subsequent alveolar collapse. CPAP works to keep the alveolar air sacs open. In RDS, a chest x-ray will show bilateral ground glass opacities with air bronchograms and decreased lung volumes.

*HYALINE MEMBRANE DISEASE* - most common in *pre-term* infants (due to lack of surfactant); severity correlates with gestational age. Other causes: preterm delivery, low birth weight, maternal diabetes, hypothermia - CXR: bronchograms, reticulogranular pattern, decreased lung volume. - prevention: antenatal betamethasone 12mg IM: 2 doses 24 hours apart given at 24-34th week of gestation - after birth: intubate, ventilation (CPAP if RR>60), oxygen, surfactant replacement, fluids, nutrition, antibiotics - differential diagnosis: TTN, MAS, pleural effusion, pneumothorax, congenital lung malformations *TRANSIENT TACHYPNOEA OF THE NEWBORN* - delayed resorption of foetal lung fluid - risk factors: maternal diabetes, macrosomia, maternal asthma, male sex, elective c-section, short labour, prematurity - RDS symptoms (tachycardia, tachypnoea, nasal flaring, grunting. *OFTEN there is no for hypoxia or cyanosis*. Symptoms occur within a few hours of birth. - CXR: *"wet silhouette": fluid in fissures*, prominent vascular markings in sunburst pattern arising from hilum, pleural effusions and normal heart size - recovery within 2-5 days with supportive care and supplemental oxygen *MECONIUM ASPIRATION SYNDROME* - risk factors: post-term delivery/thick meconium, oligohydramnios, IUGR, pre-eclampsia, maternal HTN, maternal diabetes - CXR: hyperinflation, bilateral patchy infiltrates, can be complicated by PNX (10-20%) - s/s: RDS symptoms + *barrel chest* - after birth: intubate, gentle ventilation (CPAP), oxygen, surfactant replacement, fluids, nutrition, antibiotics. Also; NO manages pulmonary HTN differential diagnosis *CONGENITAL HEART DISEASE* *INTRAUTERINE HYPOXIA* - risks: maternal smoking, diabetes, small/large for gestational age - e.g. maternal smoking can cause neonatal polycythemia (erythropoiesis occurs in an effort to increase oxygen delivery to the tissues). At birth, the infant may have an elevated venous haematocrit (> 65%), respiratory distress, cyanosis, apnea, poor feeding, hypoglycaemia, and plethora (ruddy complexion), lethargy, irritability, or seizures *CHOANAL ATRESIA* - presents shortly after birth; difficulty breathing, *central cyanosis worsens with feeding but improves with crying* - unable to pass catheter through the nasal cavities. - CT required for confirmation

*PENILE PROBLEMS* - erectile dysfunction: most likely psychological in teenagers but pathological in adults - priaprism: >4hrs prolonged painful erection - paraphismosis: foreskin not retracting causing inflammation - balanitis: penile inflammation - condyloma acuminata: penile/anal/vulva warts

*IMPOTENCE/ERECTILE DYSFUNCTION*: diagnosis requires *>3 months duration*. - causes: vascular (90%) e.g. atherosclerosis; smoking (just 2 cigarettes/day can reduce blood flow to the penis by 30%), alcohol and obesity. Others: endocrine (poorly controlled type 2 diabetes, ↓testosterone), neurological (post-op, DM), medications (e.g. antihypertensives), psychogenic (10%). - good way to differentiate between organic and psychogenic cause is the question of a morning erection; this is absent in organic cause and present in psychogenic cases. - investigate: HbA1c, lipid profile, TSH, urinalysis, testosterone, prolactin - management: lifestyle changes, sildenafil (viagra), sex counselling (if psychogenic suspicion) - sildenafil: warn about flushing, headaches and indigestion. Do not prescribe with nitrates. *PRIAPRISM*: prolonged painful penile erection persisting for >4 hours not associated with sexual arousal but rather; a failure of blood to drain from the penis. - aim to drain blood with needle into the side *PARAPHISMOSIS*: uncircumcised males develop inflammation of the foreskin. When foreskin retracts and cannot be returned to normal position; blood trapping causes glans to swell leading to tissue death and gangrene. Common in adolescence and elderly needing frequent catheterisations. *BALANITIS*: inflammation (redness, irritation and soreness) at the end of the penis +/- pain when passing urine, penile discharge. - risk factors: poor hygiene, STDs, immunosuppression, phimosis - can occur at any age; more commonly boys aged under 4 years and also men who have not been circumcised. - treatment: daktacort cream or mupirocin cream *CONDYLOMA ACUMINATA*: warts secondary to HPV found on the penis, vulva and/or anus

*PSYCHIATRY* / POOR PERFORMANCE IN SCHOOL / BEHAVIOUR ISSUES 😠 - infantile colic - learning disabilities - disruptive mood dysregulation disorder (<10yrs) - ADHD (<12yrs) - oppositional defiant disorder (>8yrs) - conduct disorder (<8yrs) - antisocial disorder (>18yrs) - major depressive disorder

*INFANTILE COLIC* - unexplained paroxysms of irritability and crying for *>3h/d, >3d/wk for>3wk* in an otherwise healthy, well-fed baby (rule of 3s) - unknown cause: ?depression/anxiety ?GI discomfort/lactose intolerance - most common @ 6 weeks of age - affects 10-40% of children <most important thing is to rule out red flags: vomiting, stool changes, fevers, irritability, lethargy, poor weight gain> management: requires parental support, changes to feeding (e.g. changing the volume of feeds, adequate burping), and initiation of soothing techniques (e.g., use of a pacifier, placing the child in a swing, rocking the infant). - symptoms usually resolve spontaneously by 3-4 months of age. *LEARNING DISABILITIES* - e.g. ADHD, dyslexia, dysgraphia, dyscalculia - causes: chromosomal abnormalities (e.g. Klinefelter), prematurity, low birth weight, birth trauma/hypoxia, CNS damage, hypoxia, environmental toxins, foetal alcohol syndrome, psychosocial deprivation (understimulation), malnutrition - risks: family history, prematurity, developmental problems, mental health issues, neurological disorders including history of CNS infection/injury - poor performance in school, social issues (hostility toward parents and teachers, difficulty making friends, bullying) - management: support child with curriculum modification, specialised education placements *DISRUPTIVE MOOD DISREGULATION DISORDER* - intolerant of frustration and *chronically irritable for ≥12 months*. This can involve *recurrent temper tantrums* (≥3x/week) and/or *physical aggression* grossly out of proportion to the triggering event occurring in ≥ 2 settings (e.g., with parents and with peers). - M>F, *age<10yrs* - increased risk of developing major depressive disorder or anxiety disorders in adulthood - manage with psychotherapy *ATTENTION DEFICIT DISORDER* (Bart Simpson) - hyperactivity, impulsivity, inattention* - age *<12yrs* and lasts >6 months - adversely affects psychological, social and/or educational/ occupational functioning e.g. poor performance in school, poor concentration, impulsivity - treatment: *behavioural therapy* is 1st line; particularly when aged<5yrs. Amphetamines e.g. *methylphenidate* for children >5yrs. Consider lisdexamphetamine or dexamphetamine as alternatives. *OPPOSITIONAL DEFIANT DISORDER* - diagnosed *>8yrs old* with s/s lasting >6 months - blames others, easily annoyed, losing temper easily 😠, argues/defies with adults, refuses to obey rules, deliberately annoy people, spiteful/vindictive - considered a *MILD version of conduct disorder*; as in there is *no property destruction or physical violence* - management: behaviour modification (CBT): reward based behaviour *CONDUCT DISORDER* 😡👊 - aggressive behaviour, such as *cruelty to animals*, fighting, bullying, destructive behaviour, such as arson and vandalism, deceitful behaviour ( e.g. shoplifting and lying), violates basic rights of others or societal norms, aggressive *ANTISOCIAL DISORDER* 😡👊 - *age >18yrs only and must have history of conduct disorder* - have little empathy, hurt others if it's willing to help them, aggressive and unlawful behaviour. *MAJOR DEPRESSION* - depressed mood and/or anhedonia for at >2 weeks. Additional symptoms include sleep disturbance, feelings of guilt/worthlessness, fatigue/loss of energy, diminished concentration/ability to think/make decisions, changes in appetite, agitation/retardation, and suicidal ideation. - substance use, underlying medical condition, bipolar disorder, and psychosis must be excluded before making the diagnosis of MDD. *PREMENSTRUAL SYNDROME* 💆‍♀️ - recurrent headaches, *irritability*, mood swings, fatigue, sleep issues, breast tenderness, abdominal pain/bloating occurring monthly just before a menstrual period. - a *menstrual diary* would provide evidence that the patient's symptoms occur concurrently with her menstrual period. - advise healthy lifestyle: regular exercise 🏃‍♀️, sleep 😴 (7-8hrs), healthy/balanced diet 🍉, yoga/meditation, paracetamol +/- NSAIDs, mefanamic acid (though low threshold for toxicity and seizures), CBT and/or an OCP. Only in severe cases; an SSRI may also be recommended. - d/d: *mittelschmerz*: occurs in ovulating women; unilateral pelvic pain that can last several days @ mid-cycle every month before disappearing on its own. It is due to enlargement and rupture of the follicular cyst during ovulation. *PREMENSTRUAL DYSMORPHIC DISORDER* - severe form of PMS whereby social, relationship and work life becomes affected - advise CBT, and SSRI treatment *POSTPARTUM BLUES* - very common; should resolve within 2 weeks - depressed, fatigued, tearful, irritable, poor concentration *POSTPARTUM DEPRESSION* - major depression within 6 months of birth - desire to harm infant is a sign - 10-15% risk especially with personal/family history, stress, poor support, unwanted pregnancy, sick infant - assess with Edinburgh postnatal depression scale - manage: support care, psychotherapy, antidepressants *POSTPARTUM PSYCHOSES* - very rare *ANOREXIA NERVOSA* - primarily adolescent girls; characterised by distorted body image and excessive dieting that leads to severe weight loss with a pathological fear of gaining weight. - *BMI<17.5* (<10th percentile), UNLIKE bulimia nervosa where it's expected to be normal - other symptoms: purging with self-induced weight loss, *submandibular masses* (indicates salivary gland hypertrophy), fear of gaining weight, amenorrhoea, reduced sexual desire - complications: amenorrhoea, bone loss & fractures caused by a combination of nutritional deficiencies (e.g. vitamin D deficiency) and hormone abnormalities (e.g., low oestrogen and testosterone) <refeeding syndrome consists of electrolyte and fluid shifts that occur as a result of re-introducing nutrition to those whom are starved or severely malnourished. It leads to deficiency of potassium, phosphate, magnesium and vitamins e.g. thiamine. It can also cause volume overload and oedema. Prevention includes IV fluids, thiamine, vitamin B tablets and slow introduction of food> *BULLIMIA NERVOSA* - binge eating (but unlike anorexia, it's uncontrollable) followed by purging - physical exam may reveal *bilateral parotid and submandibular enlargement, dental erosion*, Russel sign (scarred area distal to the knuckles due to repeat self-induced vomiting), sudden diffuse hair loss, nail dystrophy, signs of dehydration *- unlike anorexia nervosa; the BMI is usually normal or slightly underweight* - treat with CBT and/or SSRI a score used to identify an eating problem: "SCOFF": sick, control, one, fat, food. If >2; then eating disorder identified. *MAJOR DEPRESSIVE DISORDER* - episodic mood disorder that characterised by the presence of at least *5 SIGECAP symptoms* present for at least 2 weeks with at least one of the symptoms being depressed mood or anhedonia. - sleep disturbance, fatigue, appetite change, psychomotor change, anhedonia). - first-line treatment of MDD includes pharmacotherapy with SSRIs and CBT.

*HAEMATURIA* remember "bisto" mnemonic: BPH, infections, stones, trauma and others e.g. cancer, glomerulonephritis note: if patient presents with erythrocytes of urine dip: follow up in 1-2 weeks for repeat urine dip: if microscopic haematuria still present and patient is >60; they need urgent referral for rigid cystoscopy + biopsy note: rapidly progressive glomerulonephritis presents typically with nephritic syndrome and requires a quick renal biopsy in order to initiate treatment: *steroids and cyclophosphamide/rituximab* - type I: *anti-GBM antibody disease* (Goodpasture syndrome): managed also with plasmapheresis - type II: *immune complex* glomerulonephritis: IgA nephropathy, membranoproliferative nephropathy, Henoch-Schönlein purpura (HSP), lupus nephritis, poststreptococcal glomerulonephritis (PSGN) - type III: glomerulonephritis associated with *vasculitis* (pauci-immune GN, ANCA-associated): granulomatosis with polyangiitis, microscopic polyangiitis, Churg-Strauss syndrome summary - *minimal change disease*: most common cause of nephrotic syndrome in children, EM: foot processes, steroid responsive - *IgA nephropathy*: 2nd/3rd decade of life: gross haematuria during or immediately after an URTI or GI infection. Treat with ACEi +/- immunosuppressants - *post-strep GN*: haematuria 2-3 weeks after GAS tonsillopharyngitis or other infections, ↑antistreptolysin O titres, normal recovery within 6-8 weeks - *Alport's*: x-linked dominant/boys with haematuria in infancy + sensorineural hearing loss and ocular signs - *Goodpasture syndrome*: haemoptysis and haematuria; unlike Wegener's; isn't a vasculitis. Look for serum anti-GBM - *Wegener's*: UTRI + LRTI (haemoptysis) and haematuria (RPGN), c-ANCA in blood, granulomas on biopsy - *microscopic polyangiitis*: like Wegener's but no granulomas or nasopharynx involvement - *Churg-Strauss*: palpable purpura (skin involvement) differentiates it from the above vasculitis syndromes. Bloods: eosinophilia

*INFECTIONS: UTI, pyelonephritis, prostatitis (pain with urination, fever/chills; managed with ciprofloxacin for 14 days) *MINIMAL CHANGE DISEASE* - most common cause of *nephrOtic* syndrome in children characterised by frothy yellow urine (proteinuria) and oedema (↓albumin). - urine: fatty casts (hyperlipidaemia) - electron microscopy: *effacement of the foot processes* - responds well to steroids 💡 note in adults: nephrotic syndrome is most commonly caused by - focal segmental glomerulosclerosis (black populations) black - membranous nephropathy (white populations) *IgA NEPHROPATHY* (Berger Disease) - most common primary glomerulonephritis worldwide, ♂>♀, *2nd-3rd decade* of life - triggered by an *URTI or GI infection* and include *gross haematuria and flank pain during/immediately infection* - due to *immune complex* build up on the glomeruli - urinalysis: persistent *microhaematuria and minor proteinuria*, while more severe cases may present with recurrent episodes of nephritic syndrome - kidney biopsy is necessary to make a definitive diagnosis: *IgA mesangial deposition* - treatment: *ACE-i with immunosuppressive therapy* in more severe cases. - up to 50% of the patients progress to end-stage renal disease within 20-25 years. *POST-STREPTOCOCCAL GLOMERULONEPHRITIS* - most commonly seen in children (3-12yrs) 2-3 weeks after GAS tonsillopharyngitis however, other infections e.g. impetigo, malaria or osteomyelitis may also trigger PSGN - deposition of *immune complexes* containing the streptococcal antigen within the glomerular basement - typically presents as a *nephritic syndrome* with haematuria/cola-coloured urine, mild proteinuria, oedema, and hypertension. - urinalysis: RBC casts, mild proteinuria. - U/S enlarged kidneys. - bloods: *↑antistreptolysin O titres (ASO)*, low complement levels, and ↑creatinine. - in children, supportive therapy all that's required. While most children recover fully within 6-8 weeks, the prognosis in adults is typically less favourable. *GRANULOMATOSIS WITH POLYANGIITIS* - small/medium vessel vasculitis - URTI involvement ∼90% cases with *chronic sinusitis*, saddle nose deformity - LRTI infections ∼95% (*haemoptysis*), - renal ∼80 (*RPGN*) - others: skin, ocular and cardiac - *c-ANCA* in blood but biopsy required for confirmation: *granulomas* *MICROSCOPIC POLYANGIITIS* - similar to Wegener's but no granulomas are present and the nasopharynx is not involved. *CHURG-STRAUSS SYNDROME* - small vessel vasculitis that commonly manifests with *pulmonary* (e.g. *asthma, allergic rhinitis*) and skin (e.g., *palpable purpura* or tender nodules) involvement - bloods: eosinophilia, *p-ANCA* but biopsy required for confirmation *ALPORT'S SYNDROME* 👂 - x-linked dominant, genetic defect of type IV collagen - usually presents with nephritic syndrome - *haematuria in infancy, CKD in adolescence*, *sensorineural hearing loss* - skin and kidney biopsy confirmation - kidney transplant only definite treatment *SICKLE CELL DISEASE* - renal papillary necrosis: often multifactorial when combined with NSAIDs - transient sickling of RBCs in the renal capillaries results in microthrombotic infarctions and sloughing of necrotic papillae - presents with flank pain and haematuria *differential diagnosis (mainly in adults)* *MEMBRANOUS NEPHROPATHY* - most common cause of nephrotic syndrome in caucasians but *rare in children* - can be *associated with infections* (hepatitis B and C), *SLE, tumours, and medications* - EM: subepithelial dense deposits ("spike and dome appearance") - responsive to steroids *GOODPASTURE SYNDROME* - age usually 20-30yrs - auto-antibodies against collagen type IV in the renal and pulmonary capillary basement membrane - HLA-DR15 associated autoimmune disease - *haemoptysis and haematuria* - anti-GBM antibodies in serum - light microscope: crescentic glomerulonephritis - EM: linear deposition of IgG along the glomerular capillaries - treat with plasmapheresis in conjunction with prednisone and cyclophosphamide *OTHERS*: bladder or renal cell cancer, stones, glomerulonephritis, polycystic kidney disease, coagulopathies,

*SECONDARY AMENORRHOEA* *no menses for >6 months OR 3 cycles after documented menarche* - lifestyle & psychiatric - anovulatory cycles - pregnancy - hypothyroidism - polycystic ovarian syndrome - intrauterine system - Asherman's disease - menopause WORKUP 1) ascertain age, their LMP and differentiate primary from secondary amenorrhoea 2) ask: sexually active? any chance of pregnancy? taking contraception? 3) ask about lifestyle: athletic, stressful, diet 4) previous surgeries 5) calculate BMI 6) bloods: hCG, TSH, FSH/LH levels, prolactin, oestrogen, free testosterone, DHEA - ↓LH/↓FSH indicates a central cause. Consider lifestyle (stress, excessive exercise), anorexia nervosa, lactation, pituitary adenoma - ↑LH, ↑FSH*: peripheral (ovarian failure) or premature menopause. - ↑LH+FSH: in a 3:1 ratio: suggests PCOS: - workup: s/s indicating high androgens. Assess bloods (free testosterone, DHEA) and request pelvis U/S 7) pelvic U/S especially if suspecting polycystic ovarian syndrome or any other female reproductive pathology.

*LIFESTYLE AND PSYCHIATRIC*: - *↓FSH, ↓LH levels suggest central cause* - stress, lactation, malabsorption, low BMI (e.g. excessive exercise weight loss, anorexia nervosa) are more likely causes - energy deficit suppresses the hypothalamic-pituitary-ovarian axis - if headache, visual field defects, diplopia present; obtain prolactin levels. If raised; refer to endocrinology. A hypothalamic or pituitary tumour must be ruled out. - those with suspected anorexia nervosa should be referred to a psychiatrist. - counselling on diet and exercise required for those with a low BMI. Leuprolide (GnRH agonist) injections can be given to trigger ovulation. - a DEXA scan should be ordered for those excessive athletic women or anorexia nervosa with amenorrhoea of >6 weeks due to risk of osteoporosis *ANOVULATORY CYCLES* - most common cause of menorrhagia in *postmenarchal adolescents within the first 2 years* due to an immature hypothalamic-pituitary-ovarian axis. - oligomenorrhoea or irregular cycles, heavy bleeding, negative urine screen, absence of fever and abnormal discharge. - bloods will be normal - manage with NSAIDs or OCP *PREGNANCY* - rule out with LMP question and if >3 weeks; hCG pregnancy test *HYPOTHYROIDISM* - bloods: ↑TSH, ↓T3, ↓T4 *POLYCYSTIC OVARIAN SYNDROME* - ↑LH/FSH: in a 3:1 ratio - usually detected in *late teenage* years - *oligomenorrhoea* (long >35 days periods) or *amenorrhoea* (no cycles for >6 months) - *high androgen levels* - testosterone (clinical symptoms of infertility, obesity, acne, hirsutism, male patterned baldness, *acanthosis nigricans*). Total testosterone levels should be repeated if initial test is negative; ideally done in the morning - *polycystic ovaries on USS* - *LH>FSH 3:1* - ↑risk of cardiovascular disease and endometrial cancer - management: 💎 *encourage weight loss/exercise* 💎 *OCP* (regulates menstruation and are first line) progestogens (induce a withdrawal bleed if oligomenorrhoea) 💎 *co-cyprindiol*: (reduces acne and hirsutism), 💎 *clomiphene* (induces ovulation and is 1st line for those who want to conceive 💎 *metformin*: (insulin sensitivity and infertility) *INTRAUTERINE SYSTEM (IUS) e.g. Mirena coil* - makes *periods lighter, shorter or stop altogether/amenorrhoea (20% risk of amenorrhoea)* - indicated for heavy or painful periods. - spotting may occur for 6 months and periods may be erratic but gradually the menstrual flow should become lighter... approximately 20% of women experience complete amenorrhoea. *GENETIC SYNDROMES* - cause secondary ovarian failure with ↑FSH and LH but ↓oestrogen. - e.g. chromosomal abnormalities e.g. Turner's syndrome *ASHERMAN'S DISEASE* - amenorrhoea secondary to *uterine adhesions* due to previous operations on the uterus - *oestrogen + progesterone response challenge shows no withdrawal bleed* indicating some form of outflow obstruction - direct treatment involves with *lysis with hysteroscopy* - recurrence risk is reduced by placing a *foley balloon catheter* and applying *hyaluronic acid gel* to keep the walls of the uterus separated. *HYPERPROLACTINAEMIA* - secondary to pituitary adenoma. - remember associated s/s of *headaches, bitemporal hemianopsia and galactorrhea* (excessive milk production) *PREMATURE OVARIAN FAILURE* - ovaries produce insufficient levels of oestrogen: 1/3 as a result from autoimmune disorders like Addison's disease, type 1 diabetes, Hashimoto's thyroiditis. - due to low oestrogen and thus higher risk of osteoporosis: these patients should be advised to have an adequate calcium (1,500mg/day) and vitamin D (400IU/day) intake. - classic triad of 💎 amenorrhoea 💎 ↑FSH, ↑LH 💎 ↓oestrogen *HYDATIDIFORM PREGNANCY* (MOLAR PREGNANCY) - gestational trophoblastic disease with a mass of abnormal tissue originating in the placenta => *complete*: abnormal placenta tissue, no foetus, diploid: 90% are 46XX both paternal chromosomes => *partial*: contains some foetal tissue with placenta growing abnormally. Incomplete mole: triploid (69XXX or 69XXY) investigation: - transvaginal U/S: may reveal a complex intrauterine mass containing many small cysts - serum beta-hCG: complete molar pregnancy associated with much higher levels than incomplete. *MENOPAUSE*: in post-menopausal women; see other quizlet notes.

*TALL STATURE* - Marfan's syndrome AD, FBN1 on 15 defect - homocystinuria (AR) - Klinefelter's syndrome 47XXY

*MARFAN SYNDROME*: - autosomal dominant; FBN1 gene defect on chromosome 15 - excessive long bone growth: *tall stature, long, flexible thin fingers and legs, joints hypermobility, scoliosis, high arched palate*. - *lung bulla* ==> pneumothorax - 👁 *retinal detachment* with severe short-sightedness - aortic disease: *aorta dilatation* leads to aneurysms, dissection, rupture and aortic regurgitation - *mitral valve prolapse*: mid-systolic rumbling murmur @ apex with click increasing with valsava maneuver and decreasing with squatting. - can eventually lead to CCF 💔 - although genetic testing can be done; it is mainly a clinical diagnosis *HOMOCYSTINURIA* - AR disorder that presents similarly to Marfan's syndrome except this presents with *intellectual disability* while lens dislocation is downward rather than upward. - ↑ risk of developing atherosclerosis and thromboembolic events - treatment depends on the underlying defect (e.g., cysteine, vitamin B6, vitamin B12, and folate supplementation and avoidance of dietary methionine in patients with cystathionine synthase deficiency). *KLINEFELTER'S SYNDROME* 47XXY - reduced testosterone: @ puberty: small testicles, infertile, gynecomastia, *tall, long legs, short torso, broad hips, reduce muscle mass, weakness, lack of energy, loss of facial/body hair* - at higher risk of breast cancer and osteoporosis *GIGANTISIM* - tall stature (>97th percentile for age and sex), broad hands and feet, prognathism (protrusion of the mandible), frontal bossing, delayed puberty (central cause). - management is with transphenoidal adenomectomy

*CHILDHOOD VIRAL INFECTIONS*

*MEASLES* - fever, cough, corzya, *koplik's spots* (white spots of red background found on buccal mucosa of cheeks) + maculopapular rash. Very rarely; can progress to sinister complication: *subacute sclerosing panencephalitis* from 7-10 years after infection; this is degenerative disease of the CNS that starts with personality changes, memory loss, strange behaviour progressing to myoclonic jerks, ataxia, plegia then death within a year. It more common if measles is contracted before 2 years of age. Characteristic findings include elevated levels of gammaglobulin *MUMPS* - fever, malaise, tender enlargement of parotids, orchitis *RUBELLA* / *GERMAN MEASLES* - mild; may pass unrecognised. - pink maculopapular rash. - birth defects in pregnant women *CHICKENPOX* - fever, rash, crops of spots (macule-->papule-->vesicle-->dry and scab over - patients with shingles can develop chickenpox. Infectious until all lesions have scabbed. - treatment: oral aciclovir 800mg 5x/day management: supportive; paracetamol, fluids +/- antibiotics for secondary infection. Teething gels to soothe mouth lesions

*PURPURA / PETECHIAE* note: red/purple lesions are due to haemorrhage - *petechiae*: flat, red-purple, pinpoint lesions <3 mm in size; non-palpable - *ecchymosis*: flat, red-purple, larger form of non-palpable petechiae, > 5 mm in size - *palpable purpura*: raised red-purple lesions - *haematoma*: bleeding into the s/c tissue - *ITP*: 2-6yrs, after viral infection, normal physical, isolated↓PLT, re-assurance unless active bleeding - *Henoch-Schonlein Purpura*: buttocks/legs involvement after URTI - *aplastic anaemia*: BM failure - *leukaemia*

*MENINGITIS* - see "headaches" - characterised by *non-blanching* rash - various causes: meningococcal bacteria (A, B, C, W, X, Y and Z), pneumococcal bacteria, Hib, enteroviruses, mumps, herpes - spread by sneezing, coughing, etc - prevention with vaccinations (MMR @ 12-13 months, HiB part of the 6 in 1, pneumococcal, MenB is recommended for babies @ 8 weeks, followed by a second dose at 16 weeks and a booster at 1 year), Meningitis ACWY vaccine for teenagers going to university). *ITP* - most common cause for thrombocytopaenia in childhood with *peak age 2-6yrs* - 50% present *1-2 weeks after a viral illness* with sudden petechiae, purpura or epistaxis. - physical examination will be normal - bloods: *isolated thrombocytopaenia* - aim to re-assure: *spontaneous recovery within 3 months* in 70% - manage: observations only but advise to mother for the child to avoid contact sports, NSAIDs or aspirin. - if mucosal or internal bleeding: IV immunoglobulin or prednisolone - note differential: TTP presents in adults @40yrs with s/s of haematuria, schistocytes, decreased Hb, elevated LDH, elevated reticulocytes, and thrombocytopenia. *HENOCH-SCHONLEIN PURPURA* - aged *2-8yrs* typically *after an URTI* - *anti-IgA immune complex* vasculitis deposits on vascular walls - skin: palpable non-blanching purpura on buttocks/legs - others: low grade fever, arthritis (knees and ankles), GI (abdominal pain) or renal involvement (nephritic syndrome) are common - most resolve spontaneously *APLASTIC ANAEMIA* - drugs e.g. carbamazepine, methimazole, NSAIDs, cytostatic drugs, PTU, and chloramphenicol, can induce *BM failure* leading to ↓PLT, ↓WBC, ↓Hb and thus related symptoms - discontinue causative agent immediately. *ALL* - 2-6yrs onset - risks: exposure to smoking, radiation and/or lead, maternal use of alcohol or antihistamines during pregnancy, myeloproliferative disorders, Down's syndrome, chemotherapy and lack of folic acid (vitamin B9) during pregnancy - though most causes do occur sporadically and are unknown - s/s: *BM failure*: fever, fatigue (↓Hb), pallor, bruising (↓PLT), bleeding (check gums), infections (↓neutrophils) - *organ infiltration*: bone pain, splenomegaly, hepatomegaly, lymphadenopathy - investigate: ↑WBC (but not all the time), ↓PLT, ↓RBC, ↓neutrophils - *peripheral blood smear is 2nd initial step showing: >20% blasts*. Note: the *AUER RODS* are specific only for AML and NOT ALL!! - bone marrow aspiration confirms the diagnosis + biopsy - *morphology* (>20% blasts), *cytogenetics* (help stratify treatment and determine prognosis), *immunophenotyping* reveals the subtype (lymphoid or myeloid in origin) - aggressive chemotherapy (4-6wk) required followed by consolidation (months) then maintenance (up to 2 years). - poor prognosis if age<1 or >10, WBC>50, CNS involvement and if cytogenetics shows philadelphia chromosome (t9:22) and/or hypoploidy - if poor prognosis or failed remission: allogeneic stem cell transplantation *DIC* - most commonly caused by sepsis (gram negative bacteria), trauma and malignancy - *bleeding* (more common in acute cases): superficial haemorrhages: petechiae, ecchymoses, purpura and generally easy bleeding - *thrombosis* (more common in chronic cases): the micro-thrombi may lead to end-organ damage particularly with the kidneys and CNS. - *↑PT, ↑INR, ↑aPTT, ↑bleeding time* but *↓fibrinogen ↓PLT, ↑d-dimers*, smear shows schistocytes - complications: massive haemorrhage, end-organ failure/death from thrombosis - treat the underlying cause, supportive therapy with transfusions of platelet concentrates, FFP, and/or cryoprecipitate. - prognosis - depends on extent of intravascular thrombosis (10-50% mortality) *WATERHOUSE-FRIDERICHSEN SYNDROME* - rare but potentially lethal complication of meningococcal meningitis caused by an endotoxin-triggered coagulopathy which leads to acute adrenal insufficiency and adrenal haemorrhage. - typical symptoms include a non-blanching petechial rash or purpura as signs of DIC, as well as shock and other signs of acute adrenal gland failure. *VON WILLEBRAND DISEASE* - autosomal dominant - epistaxis (up to 22%), menorrhagia (22-68%), bleeding after dental extraction, ecchymoses, gingival bleeding - normal PT, ↑aPTT, *↑BT* (bleeding time) - treatment: DDAVP effective for most type 1 and some type 2, transexamic acid, vWF/VIII concentrate if DDAVP ineffective. *HAEMOPHILIA* - detected usually with haemarthrosis when the child starts to walk @ 12-13 months) - *isolated ↑aPTT*. Manage with desmopressin (DDAVP). If haemophilia B, give factor IX concentrate. *MALABSORPTION SYNDROME* - inadequate breakdown and absorption of fats and fat-soluble vitamins (A, D, E, K). - inadequate vitamin K causes deficiencies of vitamin K-dependent clotting factors, including factors II (prothrombin), VII, IX, and X. Deficiency of clotting factor II can lead to impaired haemostasis, which manifests with bleeding or bruising - look for patients with associated diarrhoea and weight loss

*CAFE AU LAIT SPOTS* - neurofibromatosis - fanconi anaemia - McCune Albright syndrome

*NEUROFIBROMATOSIS* - diagnosis of NF1 requires any 2 of the following: 6 or more café-au lait-spots, at least 2 neurofibromas, axillary or inguinal freckling, optic gliomas, lisch nodules on the iris, a distinctive bony lesion (e.g., sphenoid dysplasia, cortical thinning of long bones), or a family history of NF1 in a first-degree relative. - investigate with MRI brain due to increased risk of tumour *FANCONI ANAEMIA* - AR disorder resulting in defect in DNA crosslink repair - leads to predisposition to AML in early adulthood, pancytopaenia (mucocutaneous bleeding, recurrent infections and anaemia), short stature, cafe-au-lait spots and developmental delay. *MCCUNE ALBRIGHT SYNDROME*: - most common manifestation in women are *recurrent oestrogen-producing cysts* leading to early puberty - affects other organs; systemic disease and produces cafe au lait spots and bone fractures - manage with aromatase enzyme inhibitors.

*CYANOSIS* - oesophageal atresia - TOF - transposition of the great arteries - TAPVR - truncus arteriosus - tricuspid atresia - hypoplastic left heart syndrome

*OESOPHAGEAL ATRESIA* - @ birth; episodic cyanosis, coughing spells, drooling and foaming at the mouth - dysphagia during the prenatal period, which also explains polyhydramnios *TETRALOGY OF FALLOT* 👢 - 50-70% cause for cyanotic heart disease - most common @ *2-4 months age* - associated with DiGeorge syndrome - *pulmonary stenosis* leads to *RV hypertrophy* - *large VSD* (🎧 leads to a R-->L shunt causing cyanosis. *Aorta overrides* the septal defect - CXR: *boot shaped heart* - s/s: *cyanotic spells with movement/crying* (due to higher oxygen demand) manage: oxygen PRN, advise mother on *squatting, knee-chest position* to help cause system vasoconstriction, *morphine* (reduces ventilatory drive), *IV propanolol*, palliative management whilst awaiting definite treatment includes a "blalock-taussig shunt": made between the subclavian and pulmonary arteries. - definite treatment: surgery at 4-6 months *TRANSPOSITION OF THE GREAT ARTERIES* 🍳 - most common CHD in neonates - if pure or complete; right side never oxygenated and left side never deoxygenated and life would therefore be incompatible - risk factors: *untreated maternal diabetes* - survival dependent on mixing; PSA, ASD or VSD - CXR: *egg on a string shaped heart* - CCF is a complication over time - management: prostaglandin infusion to keep ductus open until balloon atrial septostomy *TOTAL ANOMALOUS PULMONARY VENOUS RETURN* ☃️ - all pulmonary veins drain into right sided circulation - *snowman heart on CXR*, right axis deviation/hypertrophy on ECG - surgical repair in all cases *TRUNCUS ARTERIOSUS* - large vessel (aorta, pulmonary artery combined) - associated with DiGeorge syndrome - cyanosis within the first days after birth. CCF within weeks. - surgical repair within first 6 weeks of life *TRICUSPID ATRESIA* - usually accompanied by septal defects - absence of tricuspid valve causes left axis deviation, cyanosis and a heart murmur - clinical signs of CCF are not heard *HYPOPLASTIC LEFT HEART SYNDROME* - associated with ASD and PDA allowing blood to mix from left side - prostaglandin administration helps to keep PDA open before performing surgery - surgical palliation or heart transplant

*EYES AND VISION* 👁 - ophthalmia neonatorum - congenital glaucoma - shaken baby syndrome - hordeolum/stye - blepharitis - chalazion - strabismus - amblyopia

*OPHTHALMIA NEONATORUM* - newborn conjunctivitis in the 1st month of life - causes: infections: *N.gonorrhoea is most common* followed by c.trachomatis and herpes simplex - systemic antibiotics required => *gonorrhoea*: ceftriaxone IV/IM => *chlamydia*: oral erythromycin => *HSV*: systemic acyclovir for 14-21 days - complications: gonorrhoea can rapidly penetrate causing corneal ulceration *BACTERIAL CONJUNCTIVITIS* - s.aureus most commonly - s/s: pink eye, burning, foreign body sensation, excessive tearing, photophobia, itching (if allergic conjunctivitis) - bacterial: usually *unilateral, thick purulent discharge, vision can become impaired*. - manage: erythromycin or trimethoprim-polymyxin B topical eye drops. If chlamydia or gonococcal cause; systemic therapy needed *VIRAL CONJUNCTIVITIS* - adenovirus most commonly - unilateral initially before becoming *bilateral* within days, - s/s: pink eye, burning/itching, foreign body sensation, excessive tearing, photophobia, *clear watery discharge, normal vision*, associated with URTI. - supportive tx for adenoviral cause: antihistamines, artificial tears. - HSV-1 occurs in children most commonly while HSV-2 in neonates. HSV conjunctivitis is usually unilateral and often presents with a vesicular rash. Additionally, patients with a history of atopic dermatitis are particularly susceptible to HSV conjunctivitis. Treatment is with topical ganciclovir whilst adenoviruses require just supportive *ALLERGIC CONJUNCTIVITIS* - common in young adults: IgE mediated - seasonal, contact lens use, atopic dermatitis - s/s: itching, excessive tearing + general conjunctivitis symptoms - avoid chronic irritation, cold compressors, artificial tears, antihistamines *CONGENITAL GLAUCOMA* - due to inadequate development of the filtering mechanism of the anterior chamber angle - s/s: cloudy cornea, increased IOP, photophobia, epiphora, buphthalmos (large cornea,"ox eye", secondary to increased IOP), blepharospasm - treat: filtration surgery *SHAKEN BABY SYNDROME* - ocular exam findings are important diagnostically with extensive *retinal and vitreous haemorrhages* that occur during the shaking process. They are extremely rare in accidental trauma. - a detailed fundoscopy exam or an ophthalmology referral should be conducted for all infants to whom abuse is suspected - diffuse axonal damage is commonly found with shaking causing impaired sight, hearing, speech, chronic subdural haematoma and subarachnoid bleeding. - subdural frequently is seen in infants; shaking causes intracerebral bridging veins rupture and diffuse axonal injury. Characteristic s/s: irritability, lethargy, retinal haemorrhages (due to rupture of the retinal veins), and bulging fontanelles - other injuries indicative of child abuse include posterior rib fractures, fractures at multiple stages of healing, bruises to the upper torso caused by forceful grip and complex, long bone fractures (e.g., of the spiral humerus fractures). *HORDEOLUM* - acute purulent inflammation of the *eyelash* due to s/aureus. - s/s: painful, warm soft pus-filled lump on upper eyelid. Re-assure: typically resolves after 1-2 weeks, can try warm compresses to ease pain. *BLEPHARITIS* - chronic recurrent inflammation: red, swollen *eyelids* with crusty, scaly plaques or oily deposits on the margins with irritation of the eyes (excessive tearing, foreign body sensation) - treat: topical bacitracin or erythomycin *CHALAZION* - sebaceous gland obstruction - chronic (slow-growing), firm, rubbery nodule on the eyelid away from the lid margin + heaviness of the eyelid *<features such as erythema, pain, visual impairment, or eyelash abnormalities are usually absent>* - watchful waiting (often disappear within a few months) as it's usually sterile - if persistent: consider BCC *STRABISMUS* (squint/cross eye) - one eye looks directly at the object being viewed, while the other eye is misaligned inward/outward/upward/downward. - investigate: Hirschberg test: corneal light reflex is asymmetrical. - manage: refer to ophthalmology for assessment. Usually; a *patch is placed over the good eye* to prevent the formation of amblyopia note: heterophoria: a form of strabismus does not cause deviation when both eyes are uncovered *AMBLYOPIA* (lazy eye) - most common cause of monocular vision impairment in children and young adults; caused by strabismus. - Holler test: young child upset if good eye covered - management: *eye patch over the good eye*: helps to stimulate the amblyopic eye. If significant refractive error: glasses

*FRACTURES AND DISLOCATIONS* - osteogenesis imperfecta (AD) - nursemaid's elbow

*OSTEOGENESIS IMPERFECTA* - autosomal dominant; mutation in type 1 collagen causing the "brittle bones" disease - *recurrent fractured bones* and *limb deformities*, *blue sclera* (helps rule out child abuse), progressive hearing loss (conductive) and mild short stature - differential diagnosis: shaken baby syndrome (observe for retinal haemorrhages), vitamin C deficiency (scurvy), vitamin D deficiency (rickets and osteopenia) - investigate with genetic testing - no cure available. IV biphosphonates helps increase cortical thickness. Surgery for functional improvement e.g. of case: 7 year old child brought by parents because of a fractured tibia. On physical exam: blue sclera are noticed. XR reveals healing rib fractures. *NURSEMAID'S ELBOW/RADIAL HEAD SUBLUXATION* - most common upper extremity injury in children *<6 years* caused by a pulling mechanism - child unwilling to use arm holding it semi flexed, adducted and in pronation. There is is no inflammation. - clinical diagnosis; no x-ray required. - closed reduction with either hyper-pronation technique or the supination-flexion technique.

*BACK PAIN IN CHILDREN* - overuse injury - spondylolisthesis - Scheuermann's disease - ankylosing spondylitis - bone tumours

*OVERUSE INJURY*: musculoskeletal in origin; diagnosis of exclusion *SPONDYLOLISTHESIS* - vertebral body forward slip e.g. L5 over S1 - asymptomatic ∼90% of cases otherwise chronic lumbar pain worsening with exertion and/or when reclining, waddling gait and possibly urinary or bowel incontinence - risk factors: repetitive hyperextension of the spine (e.g., gymnastics), trauma, bone pathologies, or degenerative spine disease - most common in children <6yrs, teenage years (congenital + spondylolytic) and adults aged >50yrs (degenerative form) - investigate: straight leg raise, step-off sign (in advanced cases), x-ray for confirmation - management: analgesia and physiotherapy are mainstay treatments (80% success) however; if high-grade (>50% slippage), neurologic deficit, trauma or progression of s/s despite conservative measures; refer for surgery (vertebral fusion). *SCHEUERMANN'S DISEASE* - usually in young teenagers (13-16yrs) - abnormal growth usually of the thoracic vertebrae body leading to a distinct wedge shape causing increased thoracic or mid/upper back kyphosis - back pain (worse with activity),↓ROM (especially extension) - x-ray and MRI show classic wedging *ANKYLOSING SPONDYLITIS* - chronic *inflammatory* arthritis involving the sacroiliac joints and vertebrae - HLAB27 predisposition (like all the spondyloarthropathies), M>F 3:1, teenagers and young adults are more likely to be affected - S/S: back pain (improves with exercise like RA), stiffness >3 months, ↑thoracic kyphosis (worse in the mornings and at night). - extra-articular: 6 A's *A*tlanto-axial subluxation *A*nterior uveitis (25-30%) *A*utoimmune bowel disease (UC) *A*pical lung fibrosis (rare) *A*ortic incompetence (rare) *A*myloidosis (kidneys & heart) - also rare - diagnosis: x-ray - sacroiliac joint - early pseudowidening, later narrowing. Spine will show *squaring of vertebral body edges with erosions and sclerosis. - management: exercise, postural and deep breathing exercises, smoking cessation, NSAIDs (first line), glucocorticoid eye drops, DMARDs (peripheral arthritis). Surgery: hip replacement, vertebral osteotomy. *BONE TUMOURS* - rule out with history of night sweats, weight loss, fever and pain at night

*DEVELOPMENTAL DELAY* performance significantly below average in >2 domains of development: *gross motor, fine motor, speech/language, cognition* in a child <5 years old. A 50-70% cause can be found - cerebral palsy: delay in motor milestones causes - *toxins*:: antenatal alcohol intake, drug or lead exposure - *pregnancy complications*: low APGAR score, hypoxaemia, cyanosis at birth, cerebral palsy - *genetics*: fragile X syndrome - *metabolic disorders*: inborn errors of metabolism, hypothyroidism, iron deficiency anaemia, phenylketonuria, etc - *infections*: chronic otitis media, meningitis, TORCH, - *environmental* abuse, head trauma, poverty, malnourishment, neglect - *cerebral palsy*: brain injury before, during, or after birth

*PHENYLKETONURIA* - associated with developmental delay after the age of 4-6 months, blue eyes, pale hair and skin, *musty odour*, and seizures in ∼50% - measurement of phenylalanine levels is routinely performed as part of newborn screening *CEREBRAL PALSY* - risk factors: *preterm birth and low birth weight* are more important factors. Others include: TORCH, perinatal asphyxia, intracranial haemorrhage, structural brain abnormalities, neonatal seizures, kernicterus. Minor risks include: maternal age>35, and pre-eclampsia. - MRI (older infants): periventricular leukomalacia - cranial U/S (neonate): intracerebral hemorrhage and/or hypoxic-ischemic injury - s/s: associated with *delay in motor milestones* e.g. not sitting by eight months or not walking by 18 months. Classically becomes evident @ 6-9 months of age where gross motor delay is noted. There are various types: - *spastic* (70-80%): UMN of pyramidal tract affected leading to hypertonia, stiff/tight muscles therefore reduced ROM, persistence of Moro reflex beyond 5 months. All this is the main reason for gross motor delay. - *hemiplegia*: one side of the body is affected - *monoplegia* (rare): one limb is affected - *diplegia* (rare): two limbs are affected: associated with periventricular leukomalacia in premature babies - *quadriplegia*: all four limbs: associated with hypoxic ischaemic encephalopathy - *athetoid/dyskinetic*: basal ganglia affected (may be due to kernicterus): athetoid means involuntary writhing movements while dyskinetic means involuntary jerking. - *ataxic*: (<5%) cerebellum affected causing ataxia and intention tremour *other symptoms*: abnormal posture, stiffness, sleeping, eating issues, communication, learning difficulties, visual issues - approximately half of patients have epilepsy and learning disability. - management: no cure; only to manage complications associated: MDT approach (SLT, OT/PT, dietician input, neurologist), symptom relief with botulinum toxin: for 3-6 months (to reduce spasticity), intrathecal baclofen pump: (reduces spasticity and improve speech) and selective dorsal rhizotomy: laminectomy then surgical ablation of the dorsal or 1-a sensory nerve roots thus decreasing spasticity *HEARING IMPAIRMENT* - e.g. from chronic otitis media which causes *isolated delayed speech* development. - always consider in young children, history of recurrent ear infections with retracted TM - investigate initially isolated speech/language development with an audiometry. - otitis media with effusion requires prompt tympanostomy tube insertion (also known as grommet tube, ear tube, or ventilation tube) to remove fluid from the middle ear, decrease conductive hearing loss, and help maintain an air-filled middle ear space. *FRAGILE X SYNDROME* <think "long, flexible, ↓intellect, motor delay, autistic " presentation> - x-linked dominant disorder - defect in the expression of the FMR1 gene leads to CGG repeats - 2nd most common genetic cause after Down's syndrome to cause ↓intellect. - *long narrow face, large ears, prominent jaw and flat feet* - *abnormally large testicles* - hypotonia, hyper-flexibility which can cause *MV prolapse/regurgitation* (mid-systolic rumbling murmur with mid-systolic click heard best @ the apex intensifying with valsava maneuver) - *delayed motor milestones*, speech - learning disability and *autism* (reduced communication and social interaction); mainly present after onset of puberty - PCR used for diagnosis *WORKUP FOR DEVELOPMENTAL DELAY* - ask more information on developmental delay: what have the parents noticed? (e.g. unable walk before 9 months) any regression of skills? associated feeding issues? seizures? - ask whether there were any complications/issues before, during and after pregnancy - family history: hypothyroidism, genetic issues, etc - social history: home life investigate - physical: micro/macrocephaly (head circumference), height/weight, dysmorphic features, hepatosplenomegaly, neurological exam - chromosomal abnormalities are usually detected during prenatal screening however; some mothers don't always attend these appointments. Genetic counselling may be required. - most metabolic disorders are already screened with the neonatal heel prick test however, best to repeat bloods: FBC, BCP, LFTs, CRP, TSH, ferritin, glucose, pyruvate, uric acids - vision and hearing tests - neurological: head CT, EEG - genetics consultation management - always best to refer these patients early: paediatrics, SLT (language delay), OT/PT (motor delay)

*VAGINAL DISCHARGE* - physiological leucorrhoea - vulvovaginal candidiasis - bacterial vaginosis - chlamydia - gonorrhoea - trichomonas - rupture of membranes

*PHYSIOLOGICAL LEUKORRHOEA* - non-purulent, no strong odour, not irritating - typically seen at the *onset of puberty* (due to a surge in the levels of oestrogen), around the time of ovulation (due to a peak in oestrogen levels), prior to menstruation (due to pelvic congestion), and during pregnancy. - occasionally, physiologic leukorrhea can occur during the early neonatal period (due to the influence of maternal hormones) *VULVOVAGINAL CANDIDIASIS* - s/s: white cottage cheese discharge, intense pruritus, stinging/soreness/burning during sex/peeing - risks: diabetes (most important), pregnancy, obesity, immunocompromised, OCP, antibiotics - investigate: usually clinical but wet mount test can be done: *pseudohyphae and spores* - management: *if pregnant: avoid oral anti-fungal therapies*. ↪ try *topical clotrimazole* 1% or 2% applied 2-3 times a day for 7-14 days and advise to come back if s/s persist. - if non-pregnant: you can give one-off dose of fluconazole 150mg ↪ *conservative management* - avoid soaps, cleanse with water only - dry the affected area after washing - wear cotton underwear, loose fit clothes - take showers instead of baths ↻ IF RECURRENT vulvovaginal candidiasis - be sure to obtain swabs; could the cause be bacterial instead? - urine dip +/- culture and sensitivity - an immune deficiency? diabetes/antibacterial therapy/pregnancy/OCP; be sure to check bloods - differential: vulvar lichen planus, chronic candidiasis, contact dermatitis, atrophic vaginitis, vaginal adenosis *BACTERIAL VAGINOSIS* - painless vaginal discharge: white/grey thin, watery with *strong fish odour*. Rarely itching involved. - most commonly due to *Gardnerella vaginalis* (a gram-variable rod) - risks factors: vaginal douching (vaginal irrigation), soaps/shampoos in bath, improper drying of area, tight/occlusive clothing, IUD, multiple sexual partners, not using condoms - diagnosis: vaginal PH>4.5, *whiff test* (positive with fishy odour after addition of KOH), wet mount test (clue cells). - treatment ↪ oral *metronidazole* is first line: can also be used in pregnancy: 400mg BD for 5 to 7 days ↪ intravaginal *metronidazole gel 0.75%* once a day for 5 days (off-label for women aged less than 18 years), or intravaginal clindamycin cream 2%* once a day for 7 days. - complications: 2nd/3rd premature labour and birth, postpartum endometritis, PID (rarely) *CHLAMYDIA*: - mucopurulent discharge - obligate intracellular organism - vaginal PH acidic, intracytoplasmic inclusions on Giemsa stain, nucleic acid amplification (PCR) required for diagnosis 💊 1st line: *doxycycline* 100mg BD for 7 days if >14yrs of age ⚠️ contraindicated in pregnancy and children 💊 2nd line: *azithromycin* 1g stat for 1 day, then 500mg OD for two days 💊 OR *erythromycin* 500mg BD for 10-14 days *GONORRHOEA* - gram negative intracellular diplococci - purulent creamy discharge - can be detected by PCR but also gram stain - treatment (🇬🇧 NICE guidelines) 💊 1st line: IM *ceftriaxone* 1g single dose 💊 if pregnant: ceftriaxone 500mg IM + azithromycin 1g PO (like in Canada) 💊 2nd line: oral cefixime + azithromycin 🇨🇦 note in Canada - gonorrhoea and chlamydia treated with: => ceftriaxone 250mg IM + azithromycin 1g PO stat => OR doxycycline 100 mg PO bid x 7 d *TRICHOMONAS INFECTION* - foul smelling green/yellow discharge, *itching*, soreness, dysuria, dyspareunia and abdominal pain. - vaginal PH>4.5, Whiff test positive, *strawberry cervix* (punctate haemorrhages on the cervix), wet mount preparation shows extracellular, motile, flagellated protozoa. - treat with metronidazole *PREGNANCY: RUPTURE OF THE MEMBRANE +/- LABOUR* - risk factors: prior PROM (most important), family history, infection: UTI, STD, smoking, illicit drugs e.g. cocaine, multiple gestation, low BMI, invasive procedure like amniocentesis - s/s: distinct "gush" or a steady flow of small amounts of watery fluid in the absence of steady uterine contractions (PROM) or in the presence of uterine contractions (labour). - pooling of fluid on speculum exam - PROM requires administration of ampicillin (risk of listeria) and betamethasone (if preterm). Monitor vitals and consider inducing labour; ideally @ term (>37 weeks). - if preterm: (24-33 weeks): consider tocolytic therapy (delays labour for up to 48 hours), betamethasone (accelerate prematurity) and of course ampicillin (GBS infection).

TOILET 🚽 PROBLEMS: *ENURESIS* - 98% have daytime bladder control by age 3 - defined as involuntary urinary incontinence by day and/or night in child >5yr - epidemiology: boys>girls; 10% of 6 yr olds 🚾 *urinary tract infection* 🚾 *primary nocturnal enuresis*: involuntary loss at night with history of never having attained bladder control in the past 🚾 *secondary enuresis*: develops after child sustained period of *>6 months only later to regress* due to stress/anxiety or organic disease e.g. - UTI - diabetes - constipation - overactive bladder - urethral obstruction investigations - urinalysis: always the initial investigation ==> ?blood - suspect obstruction ==> ?leukocytes - cystitis ==> ?diabetes - glucose.. if insipidus: specific gravity >1.020

*PRIMARY NOCTURNAL ENURESIS*: (1) *time and assurance*: 20% resolve spontaneously within a year. Treatment should not be considered until *AGE 7* due to high rate of spontaneous cure (2) behaviour change: *limit fluids and void prior to bedtime*. Avoid diuretics e.g. coffee, tea. Bladder retention exercises may help. (3) conditioning: *"wet" alarm clocks* wake child upon voiding (70% effective) (4) *medications*: for children >7yrs going for sleepovers: DDAVP oral tablets. Imipramine is second line. Medications are only a short term fix as children will start wetting again after they have been stopped/ *SECONDARY ENURESIS* - due to either stress/anxiety or organic disease => UTI: look for urine leukocytes => diabetes mellitus/insipidus - look for urine glucose/high specific gravity => overactive bladder => constipation => urethral obstruction: ?blood in urine dip; if so, order U/S KUB *DIURNAL ENURESIS*: - daytime wetting due to structural anomalies, micturition deferral *UTIs* - main aetiology: e.coli in 70% cases - boys>girls in the first few months of life; after that girls>boys - neonates have non-specific: poor feeding, irritability, *foul smelling diapers*, failure to thrive, jaundice, vomiting whilst older children present with typical symptoms - investigate: clean catch urine sample in infants by stimulating urination or bag urine samples are the easiest; especially for those who are potty trained however; catheterisation is preferred for those not potty-trained. Dipstick; and send for urinalysis + c&s - *admit patient if* 👶 <2 months: commence broad spectrum antibiotics till urine c&s results come back; usually IV ampicillin and gentamycin for 7-10 days . - *U/S KUB* indicated for 👶 *<2 years with a first febrile UTI* any age with *recurrent febrile UTIs* any age with a *UTI and family history of renal or urologic disease, poor growth or HTN* not responding to antimicrobial therapy - *VCUG (voiding cystorethrogram)* if: any age with >2 febrile UTIs first febrile UTI with either a family history of kidney/urological disease or had anomalies detected on a U/S KUB e.g. hydronephrosis poor growth and HTN 👩 women whom are pregnant - if asymptomatic bacteriuria: treat with antibiotics and repeat culture. This is to reduce any chances of developing premature labour and risk of maternal pyelonephritis. in the UK - first line: nitrofurantoin MR 100mg BD for 7 days - second line: amoxicillin, cefalexin in Canada - first line: amoxicillin - second line: nitrofurantoin or TMP-SMX *DIABETES TYPE 1* - onset adolescence: 10-14yrs - polyuria, polydipsia, weight loss, ↑appetite and fatigue. Red flags: rapid/deep breathing (Kaussmaul), altered state of consciousness - urinalysis: glucose +/- ketones if DKA - 2 fasting plasma glucose levels >7mmol/l - OGTT after 2 hours >11mmol/l - management: referral to paediatrician/diabetes specialist for insulin therapy - complications 🌀 DKA: if diabetes is left untreated; - hyperglycaemia causes ketone production, acidosis, dehydration, electrolyte imbalance and cerebral oedema. Hyperglycaemia can also inhibit GH leading to poor growth. - BM>15, urinary 2+ ketones, venous PH<7.35, bicarbonate<15 🌀 hypoglycaemia: if over-treated with insulin in combination with missed meals, physical activity and alcohol ingestion. - can lead to coma/death - manage with sugary beverage. If severe; IM glucagon (0.5mg if age<12 or 1mg if age>12). 🌀 chronic issues: vascular disease, nephropathy, neuropathy, retinopathy

*PALPABLE ABDOMINAL MASS* - pyloric stenosis (2-4 weeks of birth, RUQ olive) - neuroblastoma: irregular mass that crosses the midline - Wilm's tumour (kidney tumour): smooth mass; doesn't cross the midline - intussusception: right epigastric sausage shaped mass

*PYLORIC STENOSIS* - projectile NON-BILOUS vomiting *2-4 weeks after birth*; immediately after feeding, dehydrated, *palpable "olive" in RUQ* (60-80%), decreased stools and hunger. M>F. Can lead to hypochloremic metabolic alkalosis. - investigations: abdominal U/S of pylorus but if obstruction suspected: request AXR - management: requires pylorotomy - prevention: breast feeding babies has a lower incidence of pyloric stenosis than those whom are bottle-fed. *NEUROBLASTOMA*: - arise from sympathetic ganglion; >60% arise in the abdomen - initially: abdominal distention and constipation with a *palpable, irregular mass that crosses the midline* - also causes *feet twitching* and *erratic eye movements* - diagnostic finding is ↑urine catecholamine metabolites (homovanillic and vanillylmandelic acid). - very urgent referral (appt within 48hours) for specialist assessment for neuroblastoma in children with a palpable abdominal mass or unexplained enlarged abdominal organ *WILM'S TUMOUR* - most common @ ages 3-4yrs but *occurs <7yrs* - non-tender, *smooth* palpable abdominal mass that *doesn't cross the midline*. May also present with unexplained visible haematuria otherwise it is an incidental finding. - U/S guided biopsy required to confirm - very urgent referral (appt within 48hours) *INTUSSUSCEPTION* - part of intestine invaginating into another; commonly ileo-colic junction - 80% occur in <2yrs with M>F by 4:1 - risk factors: 90% idiopathic otherwise CF, obese and formula fed children - s/s: sudden paroxysmal/colicky abdominal pain lasting >2 hours, vomiting (non-bilous --> bilous), *draws up legs to abdomen during painful episodes*, *maroon jelly like stool* (late sign), *right epigastric sausage shaped mass OR no bowel is felt* - investigate: urgent U/S to assess condition (differential is evening colic), AXR to rule out bowel obstruction - management: NBM, IV fluids, analgesia, antiemetics, *reduction with air contrast enema ASAP* as death can occur within 2-5 days if left untreated

*KNEE PAIN IN CHILDREN* - septic arthritis/osteomyelitis - trauma related: ligament damage - medial knee pain: MCL injury, medial meniscus tear and fractures of the tibial plateau - lateral knee pain: iliotibial band syndrome, lateral meniscus injury - anterior knee pain: ACL injury, pre-patellar bursitis, chondromalacia patellae, patella instability, osgood-schlatter disease. - juvenile idiopathic arthritis *OTTAWA RULES FOR X-RAY*: only applies to those with an *acute* knee injury + >1 of: - >55 years or older - Tenderness at head of fibula - Isolated tenderness of patella - Inability to flex the knee greater than 90° - Inability to bear weight both immediately and in the emergency department (4 steps)

*SEPTIC ARTHRITIS / OSTEOMYELITIS* - see above *MEDIAL MENISCAL TEAR* - MCL more common with *direct blow to outside of knee* causes valgus deformity: pain, instability, difficulty weight-bearing, locking. <note: LCL is due to a blow from the inside> - diagnosis: MRI or arthroscopy - management: surgical repair if there is locking or if non-operative means fail *ANTERIOR CRUCIATE LIGAMENT INJURY*: - *sports injury*: sudden deceleration, twisting, pivoting, turning causing *audible pop*, *immediate swelling, "giving way" and inability to continue activity* - diagnosis: positive anterior drawer test (easiest) and has good 90% sensitivity and specificity - see picture), pivot shift sign and Lachmann test (more accurate) <anterior draw test: see picture: patient in supine; flex the hip and knee to 45 and 90 degrees respectively. Sit on the patient's foot (for grip), hold onto the upper part of the tibia and quickly pull it toward yourself. Positive if pain (sprain) or excessive movement (tear) *POSTERIOR CRUCIATE LIGAMENT INJURY*: - sudden posterior displacement of tibia when knee is flexed or hyperextended for example in a *motor vehicle crash*. Symptoms as above. - diagnosis: positive posterior drawer test, reverse pivot shift sign management for ACL or PCL 1) *immobilise with knee brace for 2-4 weeks with early ROM and strengthening* 2) if complete tear or a very active individual: refer for ligament reconstruction *ANSERINE BURSITIS*: medial knee, night pain. 2-3cm below medial joint line; can be bilateral with localised tenderness. *ILIOTIBIAL BAND SYNDROME* - lateral knee and thigh pain: one of the most common overuse injuries among runners. Can be tender in this area and s/s worse with knee flexed to 30 degrees. *PATELLOFEMORAL OVERLOAD* - common in teenagers, young athletics due to damaged cartilage - pain with walking up and down stairs and with prolonged sitting *PATELLOFEMORAL SYNDROME - CHONDROMALACIA PATELLAE* - risks: young athlete females, excessive knee strain causing articular cartilage damage *predominantly in the medial aspect of the patella* - s/s: deep aching anterior knee pain *worse with prolonged sitting, stair climbing or strenuous athletic activity*, "popping", catching, stiffness may also accompany clinically features - physical examination: ==> pain with firm compression of the patella into the medial femoral groove. ==> *J sign*: ask patient to sit with legs hanging; then extend knee from baseline 90-180 degrees. Observe for patellar deviation laterally in the shape of the letter "J" . - *MRI is best to assess cartilage*. X-ray may be non-conclusive - management: exercise and strengthening via physio is the mainstay of treatment, surgery if all else fails <note: there should be NO swelling or locking as this indicates an intra-articular pathology> *OSGOOD-SCHLATTER DISEASE* - inflammation of the patellar ligament at the insertion point on the tibial tuberosity due to repetitive stress - onset @ puberty, athletic, boys>girls - s/s: knee pain that worsens with activity. On examination: *tender lump over tibial tuberosity, pain on resisted leg extension*. There are no effusions, instability or loss of ROM. - x-ray: lateral: shows fragmentation of tibial tubercle - management: restrict high intensity exercises, analgesia, physiotherapy. - most cases completely resolve in 18-24 months. *GROWING PAINS* - risk factors: sporty children - diagnosis of exclusion normal physical findings - most common in *3-12yrs* of age - intermittent, non-articular pain that occurs in the evenings and @ night, often bilateral limited the calf or shin. There is *relief with heat/massaging* and there will be full ROM on examination - child is well, asymptomatic during the day with no loss of function - re-assurance: a child playing sport will put a lot of strain on their joints and ligaments; the pain only becomes noticeable after rest. Advise; heat/massaging and basic analgesia. *JUVENILE IDIOPATHIC ARTHRITS* - *oligoarticular arthritis*: the most common type of JIA. It affects up to 4 weight-bearing joints - most commonly in the knees, ankles and wrists. Usually girls>boys (80%), *age <4 years*. Associated with *chronic bilateral uveitis* in 20% - *polyarticular JIA*: second most common type of JIA and affects >5 joints; s/s similar to RA. - *Still's Disease*: joint pain and swelling, muscle pain, and a salmon-pink maculopapular rash. Inflammatory markers raised - *Enthesitis related arthritis*: is a type of juvenile arthritis that often affects weight bearing joints with inflammation at the site where tendons or ligaments attach to the bone. Stiffness can occur in the neck and lower back in the teenage years. It's also linked to acute uveitis. *OSTEOCHONDROMA* - most common benign tumour - 2nd/3rd generation of life - painless bone swelling in the metaphysis of long bones near tendon insertion sites - x-ray: bone spur "mushroom🍄 " ⚠️ *OSTEOSARCOMA* - most common malignant bone tumour - frequently in 2nd decade (10-20yrs) of life - predilection to sites with rapid growth e.g. distal femur (most commonly) or proximal tibia - painful progressive pain: weeks/months (characteristically at night & activity), poorly defined swelling, decreased ROM. - XR: characteristic periosteal pattern: "*sunburst☀️ pattern*" suggests malignant lesion - biopsy: poor formed trabecular bone - management: complete resection (limb salvage, rarely amputation), neoadjuvant chemo; bone scan (to rule out skeletal metastases), CT chest (rule out pulmonary metastases) - prognosis: 70% survival (high-grade); 90% survival (low-grade) - in elderly; linked with Paget's disease ⚠️ *EWING'S SARCOMA* - malignant *small round blue cell* tumour peaking @ 10-20yrs age. - *midshaft* of long bones or flat bones; s/s can mimic infection. - may have a fever, leukocytosis and ↑ESR. - XR: *"onion skinning"* pattern with multiple lytic lesions - bone biopsy: small round blue cells. *SOLITARY BONE CYST* - during first 2 decades of life - proximal long bones, *associated with pathological fractures* - x-ray: well defined lytic transluscent (fluid filled) area *ENCHONDROMA* - 2nd/3rd generation of life - 60% in *small tubular bones* e.g. hands/feet - MRI: popcorn "stippled" lytic region of the bone *OSTEOID OSTEOMA* - proximal femur and tibia diaphysis - x-ray: small round radiolucent nidus (<1.5cm) surrounded by dense tissue - typical *nocturnal pain* relieving with NSAIDs or aspirin. - observe but if symptomatic; excise ⚠️ *ANEURYSMAL BONE CYST* - benign but *aggressively destructive*; occurs in the first few decades of life - commonly in distal femur/proximal tibia, distal radius or spine - blood-filled, fibrous cysts that expand the bone and can cause pain, swelling, localised tenderness. Can be complicated with fractures. - refer for x-ray *LANGERHANS CELL HISTIOCYTOSIS* - rare disorder; onset 5-10yrs of age. - clinal proliferation of antigen presenting cells - single or multiple osteolytic lesions causing bone pain and swelling. - the *skull*💀 is the most commonly affected bone in children but can also involve organs ⚠️ *CHONDROSARCOMA (IN ADULTS ONLY)* - primary 2/3 cases: patient >45yrs with expanse into the cortex causing progressive pain with pathological fractures to proximal long bones. - secondary 1/3 cases: patient 20-40yrs with mets from enchondroma or osteochondroma - XR: *irregular popcorn* calcification - manage: aggressive surgical resection. Note; it is unresponsive to chemotherapy. ⚠️ *BONE METASTASES (IN ADULTS)* - 2/3 from breast or prostate but consider also lung, thyroid and kidneys - always consider strongly in those presenting with lower back pain who are older, African-American, heavy smokers, complain of night pain, night sweats and unintentional weight loss and display hypercalcaemia on bloods. - ALP is an important laboratory value for evaluating bone disease. If a patient with a history of breast cancer has elevated alkaline phosphatase and back pain, vertebral bone metastasis must be considered. - MRI request needed WORKUP 1) ask *S*ite (anterior, medial, below, etc), *O*nset (when and how long?, *C*haracter (sharp/dull/aching?), *R*adiation (any pain in the hip or foot?), *A*ssociated (any numbness/tingling/limb weakness and ask systemic s/s like weight loss, fever, night sweats), *T*iming (how long it lasts?), *E*xacerbates (worse with rest or exercise? - rule out inflammatory causes e.g. RA, SLE). *S*everity (on a scale of 10) 2) *history*: previous episodes? (can determine if systemic disease) history of any trauma? previous surgeries? => helps rule out ligament injury, meniscal tear and fractures 3) *examination*: - is the joint red/hot/swollen/tender? rule out gout, pseudogout, septic or other infectious arthritis and check basic observations - can the patient weightbear? can they move their knee actively and/or passively (if not at all; ?septic) - check knee power, sensation, pulses and reflexes if necessary 4) *tests*: joint aspiration + c&s: if suspected septic arthritis or pseudogout or gout (rarer) otherwise x-ray (Ottawa rules) or MRI.

*BLISTERING SKIN DISEASES*

*STAPHYLOCOCCI SCALDED SKIN SYNDROME* - fever, leukocytosis, flaccid bullae over the trunk, a positive Nikolsky's sign with *sparing of the oral mucosa* - typically affects *children <6yrs* due to impaired renal clearance of the exfoliative toxins - note similarity with pemphigus vulgaris: but this only occurs in age>30 + mucosal involvement is present - note: bullous pemphigoid occurs in the elderly and are usually tense, not flaccid. In addition, Nikolsky's sign would be negative - note: SJS and TEN (toxic epidermal necrolysis) are the same entity but differ in terms of disease severity (based on surface area of skin involved). TEN involves <30% skin involvement unlike Steven Johnson syndrome - note: epidermolysis bullosa does not produce a fever and is not infectious.

*MOVEMENT DISORDERS* / NEUROLOGICAL term-24 - Tourette's syndrome - autism (can also present with tics) - tetanus - botulism

*TOURETTE'S SYNDROME* - onset 4-6yrs improving by adolescence with 50% tic free by age 18 - common genetic neurological disorder involving *motor and phonic tics*; involuntary, sudden, brief movements or utterances that last >1 year often worsened by stress. - motor: blinking, head jerking, facial grimacing, gestures - vocal: grunting, cough, random words/phrases - family history or personal history of *OCD and/or ADHD or such behavioural symptoms* - management: *clonidine* to suppress predominant behavioural symptoms particularly impulse control and rage but for focal and motor tics: behavioural therapy (if mild), *risperidone* or *botulinum toxin injections* into the affected muscles to help control symptoms *AUTISM* - deficient communication, social interaction, and understanding of others states of mind - social impairment, speech and language delay, minimal emotional expression, restricted repetitive behaviours e.g. tics and bizarre repetitive motor activities e.g. head banging - management includes 'tertiary prevention': using the structured TEACCH programme. *TETANUS* - consider in unvaccinated children and/or non-immunised mothers - generalised muscle *stiffness*, twitches, weakness, spasms, difficulty feeding *BOTULISM* - honey intake <12 months of birth - *hypotonia/flaccid*, weakness, poor feeding, and irritability - treatment with human-derived immune globulin if <1yrs otherwise the antitoxin is used only if >1yr *SUBACUTE SCLEROSING PANENCEPHALITIS* - very rare complication occuring 7-10 years after a measles infection - degenerative disease of the CNS that starts with personality changes, memory loss, strange behaviour progressing to myoclonic jerks, ataxia, plegia then death within a year. - it is more common if measles is contracted <2yrs

*VOMITING IN NEONATES* note: *- a distended abdomen and bilious emesis suggest an intestinal obstruction distal to the pylorus* - tracheooesophageal fistula (immediate after birth) - pyloric stenosis (2-4 weeks old) - duodenal atresia (within 24hrs of life; 2x bubble) - jejunal atresia (within 24hrs, 3x bubble) - Hirschsprung disease (within a week) - meconium ileus (within first few days) - malrotation (within 1st yr) - volvulus - necrotising enterocolitis (within 2-3 weeks) - gastroenteritis - cyclical vomiting

*TRACHEOOESOPHAGEAL FISTULA* - immediately after birth: vomiting, excessive secretions (e.g. drooling, choking, respiratory distress), inability to feed. - unable to advance an NG tube - request CXR or upper GI series with water soluble contrast *PYLORIC STENOSIS* - projectile NON-BILOUS vomiting *2-4 weeks after birth*; immediately after feeding, dehydrated, *palpable "olive" in RUQ* (60-80%), decreased stools and hunger. M>F. Can lead to hypochloremic metabolic alkalosis. - investigations: abdominal U/S of pylorus but if obstruction suspected: request AXR - management: requires pylorotomy - prevention: breast feeding babies has a lower incidence of pyloric stenosis than those whom are bottle-fed. *DUODENAL ATRESIA* - typically BILOUS vomiting presents in the *first 24 hours of life* with *abdominal distension* and *scaphoid abdomen*. - risk factors: preterm infants, Down's syndrome, polyhydramnios during pregnancy. hypokalemic hypochloremic metabolic alkalosis. - AXR, upper GI series, contrast enema ("*double bubble sign*") *JEJUNAL ATRESIA* - similar to duodenal atresia but *triple bubble sign* on AXR confirms diagnosis - risks: maternal use of vasoconstrictive drugs (e.g., cocaine, MDMA, or cigarettes), polyhydramnios. *HIRSCHSPRUNG DISEASE* - usually presents within a week of birth - abdominal distention, bilious emesis secondary to obstruction from an aganglionic portion of the rectosigmoid colon - history of delayed passage of meconium - x-ray: large dilated bowel - only rectal biopsy confirms diagnosis *MECONIUM ILEUS* - associated with CF in 90% cases - presents within the first few days with s/s of obstruction i.e. distension, bilous vomiting, sparse bowel sounds, dilated bowel loops on AXR - manage with NG decompression, fluids - *gastrografin enema is both diagnostic and therapeutic*. - complications: volvulus, perforation and peritonitis; in these cases; surgical intervention is required. *MALROTATION* - congenital anomaly of rotation of the midgut: this can lead to odd locations of certain parts of bowel e.g. the caecum displaced from its usual position in the RLQ into the epigastrium or right hypochondrium. - recurrent bilous emesis in 1st year of life WITHOUT abdominal distension. - often leads to volvulus (obstruction) *VOLVULUS* - obstruction caused by twisted loop of bowel onto its mesentery - usually midgut volvulus in neonates - bilious emesis, crampy abdominal pain and tenderness, abdominal distension, unable to pass stool (meconium ileus). Late stage: *bloody stool*, shock. AXR may show a "*double bubble*" sign *MIDGUT VOLVULUS* - torsion of a malrotated midgut causing mechanical bowel obstruction, mostly in neonates and infants - bilous vomiting +/- abdominal distension *NECROTIZING ENTEROCOLITIS* - risks: prematurity, maternal cocaine use👃 hyperosmolar feed and enteral feeding with formula 🍼 - usually presents *2-3 weeks of birth* - poor feeding, bilous vomiting, lethargy, abdominal distension, +/- peritonitis, thrombocytopenia, rectal bleeding and metabolic acidosis - AXR: dilated bowel loops - manage: NBM, IV fluids, decompression with NG tube, TPN, antibiotics (due to risk of perforation: ampicillin, metronidazole and gentamycin for 7-10 days) - if peritonitis or acidosis: immediate surgical resection of necrotic bowel *GORD* (reflux) - usually benign in infants: *regurgitation + vomiting 10-15 mins after feed* without weight loss or irritability. - advise on positioning therapy: *maintain an upright position shortly after feeding* and avoid sitting/ supine positions. If benign; it should resolve spontaneously <18 months - if s/s persist >18 months; not benign: s/s of irritability, weight loss and failure to thrive. Older children: burning chest pain with n/v. - manage: positioning therapy, PPIs and H2-receptor blockers (e.g., ranitidine). *GASTROENTERITIS*: - see "diarrhoea"; its main association. *CYCLICAL VOMITING* - intense and often bilious - typically presents in young children with recurrent self-limited episodes of vomiting and abdominal pain lasting several hours with absence of symptoms between episodes. - often associated with a triggering factor such as a psychological stressor (e.g. a divorce) or foods e.g. cheese or chocolate. - diagnosis only made in the absence of anatomical anomalies.

*FEBRILE SEIZURES* ⚡️ - most common cause of seizure in children with temp>38; due to URTI - M>F, age 6 months to 3 years usually resolving by 6yrs - consider and rule out meningitis general workup for seizures - physical: ears, throat, skin for rashes, chest, abdominal examination, neurological exam including fundoscopy - FBC, U&E, CRP, urea, creatinine, glucose, calcium, magnesium - blood cultures, urine c&s, throat, sputum, skin - CXR: to rule out pneumonia - toxicology screening if warranted - EEG: if suspecting for epilepsy: Dravet's syndrome, generalised and temporal lobe epilepsy will have febrile seizures. - LP if suspecting meningitis (mandatory at age<12 months) - CT/MRI if neurological deficit or atypical seizure: rule out haemorrhage or tumour seizure types - *simple*: <1 minute, complete awareness sensory: numbing/tingling, motor: limb jerk, facial twitch, autonomic: blushing, nausea or psychic: deja vi, hallucinations (visual, sound, taste, smell) - *simple complex: focal seizures (above) with impaired awareness and postictal period: suggestive of an isolated temporal lobe seizure - *tonic*: "drop attack": sudden brief stiffening of the muscles and falling rapidly - *atonic*: similar but whole body flaccid - *tonic-clonic* (grand mal*): characteristic sudden loss of consciousness and stiffness --> falls then jerks (clonic). Often followed by a postictal period (confusion, drowsiness, nausea, etc). - *absence/petit mal*: usually start in childhood; mistaken for daydreaming with no postictal period. The patient will resumes normal activity with no memory of the event. Manage with first line ethosuximibe or sodium valproate. - myoclonic: v.brief <1 second muscle jerks often in the upper body. Consciousness unaffected - *reflex anoxic seizure* in children; they will often open their mouth as if they're going to cry, but make no sound before turning pale grey and losing consciousness. There may be jerking before regain of consciousness after 1 minute. Usually disappears by 4-5yrs - first line treatment for generalised seizures is lamotrigine risk factors for epilepsy - presence of neurodevelopment disorders (33%) - focal complex febrile seizure (29%) - family history (18%) - fever <1 hour before seizure (11%) - recurrent febrile seizures (4%)

*TYPICAL 70-80%* - duration <15 minutes - generalised tonic-clonic with no recurrence within 24 hours - no neurological impairment before/after seizure 1) rule out suspicion for meningitis - child <12 months: will need LP - child 12-18 months has meningeal signs: consider doing LP - child >18 months with meningeal signs 2) if meningitis ruled out: consider this is due to HHV-6, influenza, family history of febrile seizure or a recent immunisation (especially DTP and MMR). - *re-assure there is no damage to the brain* however, there is a slight risk of recurrency and developing epilepsy. - patient can be discharged without observation unless meningitis suspected. *ATYPICAL (20%)*: at least one - >15 minutes - >1 episode within 24 hours - focal seizure - neurological impairment/deficit 1) investigate cause for fever and consider requesting an EEG/CT/MRI for further evaluation if underlying epilepsy disorder (EEG) or tumour (MRI). differential for febrile convulsions - iron deficiency, zinc deficiency - Dravet's syndrome differential for afebrile seizures - *BREATH HOLD SPELLS*: typically manifest between 6-18 months *triggered by emotional distress*. Typical sequence includes crying, exhaling, and holding the breath, followed by cyanosis and loss of consciousness +/- jerking before *making full recover <1 minute*. - re-assure condition is benign and child will outgrow it by the age of 4-8 years - diagnosis based on the clinical features and a detailed description of the episode; no treatment is required. prognosis - most children make a full recovery by 6 years of age though there is a very small chance they can develop epilepsy - there is a 30-35% chance of developing another febrile seizure child epilepsy syndromes ⚡️*DRAVET SYNDROME*, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy. Usually febrile, long (15-30 minutes), These seizures can become worse and cause developmental delay. ⚡️*INFANTILE SPASMS (WEST SYNDROME)*: last 10-30 seconds secondary to metabolic or developmental abnormalities, encephalopathy. Causes developmental regression and hypsarrhythmia on EEG ⚡️*LENNOX-GASTAUT*: (age 3-5): multiple seizure types, developmental delay, cognitive dysfunction due to encephalopathy and brain malformations and characteristic EEG changes. ⚡️*BENIGN ROLANDIC EPILEPSY*: (age 5-10): focal motor seizures of the tongue, mouth, face usually followed by limb jerking. Patient remains fully conscious throughout. Onset peaks at 5-10 years age. Frequent seizures controlled with carbamazepine. ⚡️*CHILDHOOD ABSENCE EPILEPSY* (peak 6-7 years); absence seizures last <30 seconds without postictal state. Manage with valproic acid or ethosuximide ⚡️*JUVENILE MYOCLONIC EPILEPSY*: (age 12-16): generalised tonic clonic seizures. Disease is autosomal dominant. Lifelong treatment of valproic acid required. general approach to management - if seizure re-occurs; be sure to put child into recovery position and call an ambulance - precautions of daily life - anti-epileptic medication if warranted - inform the DVLA

*CHRONIC DIARRHOEA IN CHILDREN* >4 weeks failure to thrive - cow's milk intolerance - coeliac disease - inflammatory bowel disease - lactose intolerance - cystic fibrosis - hyperthyroidism without failure to thrive - gastroenteritis - toddler's diarrhoea - medications - irritable bowel syndrome

0-3 months with failure to thrive *COW'S MILK INTOLERANCE*: associated also with soy milk intolerances produces watery stools, crying, spitting, mild abdominal distension, occult blood in stool and poor weight gain. Manage with breastfeeding exclusively for the first month or hydrolysed casein formula. 0-3 months without failure to thrive *GASTROENTERITIS*: amoebae, giardia, or cryptosporidium are suspected, particularly if diarrhoea is persistent >2 weeks or the person has travelled to an at-risk area. 3 months - 3 years with failure to thrive *COELIAC DISEASE* (gluten intolerance): poor appetite, irritable, n/v, abdominal pain in response to ingestion of barley, rye, oats and wheat. Diagnose with *serum ttG level + IgA*. Definitely via intestinal biopsy. 💬 ask about fatty diarrhoea, excessive wind, abdominal cramping, family history. Can occur at any age. 3 months - 3 years without failure to thrive *GASTROENTERITIS* (see above) *TODDLER'S DIARRHOEA*: diagnosis of exclusion in thriving child. Ensure adequate *f*ibre, normal *f*luid intake, 35-40% *f*at and discourage excess *f*ruit juice 3-18yr old *ULCERATIVE COLITIS* - 💬 suspect in teenage years, family history, bleeding, alternating bowel movements, abdominal pain - treatment in mild cases: 5-aminosalicylic acid derivatives e.g. mesalazine or sulphasalazine. 2nd line: steroids. *LACTOSE INTOLERANCE* watery diarrhoea, bloating: associated with dairy product intake. Trial a lactose free diet. *CYSTIC FIBROSIS*: fatty/greasy stool *OTHER MALABSORPTION*: e.g. vitamin D deficiency *ANTIBIOTIC ASSOCIATED COLITIS*: recent use of antibiotics *MEDICATIONS*: laxatives, antibiotics, antihypertensives (ACE-i), NSAIDs, metformin, gliptins, PPI therapy, SSRI, furosemide, etc *HYPERTHYROIDISM* - very rare; in up to 5% of infants born to mothers with Graves' disease develop thyrotoxicosis due to the transplacental passage of maternal stimulatory TSH-receptor antibodies (TRAbs). - s/s: jittery, hyperactive, poor weight gain, irritability, tachycardia, hypertension and goiter - transient and usually resolves within 12 weeks, when maternal TRAbs disappears from the infant's circulation. - therapy: methimazole and a beta blocker - adverse effects: *craniosynostosis* (one or more of the sutures close too early, causing problems with normal brain and skull growth), *bone age advancement* and *cardiac failure* *IRRITABLE BOWEL SYNDROME* - diagnosis of exclusion: - recurrent central/LLQ abdominal pain/discomfort for >3 days/month for the last 3 months - symptoms *relieved by defecation* or associated with *altered bowel movements/frequency* + >2 of the following: bloating, straining, postprandial urgency and mucorrhoea note in adults; consider also colorectal ca, diverticular disease, chronic pancreatitis,

*DELAYED PUBERTY* - average age for girls to begin puberty is 11, while for boys the average age is 12 definitions ➖*MALES*: poor testicular enlargement by age 14yrs ➖*FEMALES*: either: - lack of breast development by 13yrs old - absence of menarche by 16yrs or within 5yrs of pubertal onset. management - identify and treat underlying cause - hormonal replacement: cyclic oestradiol, progesterone for females. Testosterone for males. Female Tanner Stages 1. no glandular tissue: areola follows the skin contours of the chest (prepubertal), no pubic hair: typically <10yrs 2: breast bud forms, areola begins to widen. (10-11.5) 3. breast more elevated, extends beyond the borders of the areola, which continues to widen but remains in contour with surrounding breast (11.5-13) 4. increased breast sizing and elevation; areola and papilla form a secondary mound projecting from the contour of the surrounding breast (13-15yrs) 5. adult breast size; areola returns to contour of the surrounding breast, with a projecting central papilla.

workup 1) physical: Tanner scale 2) rule out *PREGNANCY* (hCG) 3) x-ray of wrists: bone age delayed compared to chronological age: *CONSTITUTIONAL* 4) bloods: check basal LH and FSH ➖ if ↓LH+FSH: ↓GnRH production: - *ATHLETIC🏃‍♂️, MALNUTRITION🍔, ANOREXIA NERVOSA, CNS TUMOUR, KALLMAN SYNDROME* ➖ if ↑LH+↓FSH: in a 3:1 ratio: peripheral cause - consider *PCOS*: confirm with pelvic U/S, amenorrhoea, hyperandrogegism (acne, oily skin, acanthosis nigricans) with normal pubertal changes ↑/normal LH+FSH: peripheral cause - bloods (rule out *ANDROGEN INSENSITIVITY, CF, COELIAC DISEASE, DIABETES, KIDNEY DISEASE*) - pelvic U/S (*PCOS, MULLERIAN AGENESIS*) - karyotype (*TURNERS, KLINEFELTER'S*) - genetic: (*KALLMANN SYNDROME*) 5) in the case of primary amenorrhea → measure also TSH and prolactin *ANDROGEN INSENSITIVITY* - ↑LH and ↑testosterone - when a person is genetically male but resistant to androgens and as a result develops physical traits of a woman. The resistance causes the testis to remain undescended (feel for inguinal masses) which will need an orchiectomy. - primary amenorrhea, a *blind vaginal pouch, no pubic hair but normal breast development*. U/S shows an absent uterus *MULLERIAN DUCT AGENSIS* - rare and composed of absent or hypoplastic uterus, cervix and vaginal atresia - primary amenorrhoea, *blind vaginal pouch* due to vaginal atresia. *Development of secondary sexual characteristics occurs normally* since the gonads are functional (breast development, pubic hair) - treatment: surgery *5-ALPHA REDUCTASE ENZYME DEFICIENCY* - primary amenorrhoea, blind vaginal pouch, absent uterus on U/S, *features of virilization* (e.g. clitoromegaly, hirsutism, and deepening of the voice) at the time of puberty, and the ultrasound would reveal undescended testes. *KALLMANN SYNDROME* - hypogonadotropic hypogonadism therefore underdevelopment of both primary and secondary sex characteristics. - ↓GnRH, ↓LH/FSH, ↓oestrogen, progesterone and testosterone

*SWOLLEN PAINFUL JOINT/LIMB* - septic arthritis - osteomyelitis - haemarthrosis

⚠️*SEPTIC ARTHRITIS*: - most commonly in children affects the large joints: *hip* > knee and has a *subacute* onset 1-2 weeks. In adults; the knee is the site of interest. - *risk factors*: immunocompromised (elderly, IVDU, diabetes, HIV, steroid use), prosthetic joint, recent trauma/intra-articular injection, arthritis, sepsis. - *s/s*: acutely swollen, red, tender, warm joint, refusal to bear weight, severely reduced ROM. Kocher criteria used in children - *investigate*: hip may be flexed, abducted and externally rotated, very poor ROM. Bloods: raised inflammatory markers. *Joint aspiration is gold standard*. X-ray will not show joint destruction/narrowing until 2-3 weeks after onset of attack. - *treatment*: with analgesia, high dose co-amoxiclav 1.2g/8hr IV for >6 weeks after positive diagnostic joint aspiration test. May need repeated aspiration/surgical washout. ⚠️*OSTEOMYELITIS*: - doesn't affect the joint itself; but the *bone marrow*. It may look like a swollen joint so important to keep in differential. - *aetiology*: with children: previous trauma, punctured wound, surgery, bone fracture, abscessed tooth, infection of soft tissue/ear/sinuses, sickle cell anaemia. - *s/s*: pain, fever, warm, erythematous, acute tenderness around area of the bone, *refusal to use the limb, touching/moving is impossible*, localised inflammation - investigate: routine bloods, cultures. If <2 weeks onset: request an *MRI (shows bone destruction)* otherwise a technetium radionuclide scan (demonstrates ↑osteoblastic activity). To confirm diagnosis however, a *bone biopsy tissue for culture is gold standard*: ideally this is done before giving antibiotics. If s/s >2 weeks; chronic osteomyelitis can be seen on an x-ray. - *treatment*: analgesia, IV fluids, antibiotics (for 6-8 weeks), splint, +/- surgical debridement (removal of necrotic tissue). <note; the most common cause overall is s.aureus but in sickle-cell disease; salmonella enterica* *HAEMARTHROSIS* - consider in a child who's starting to walk; aspiration contains blood. A sign of haemophilia disease.

*TESTICLE PATHOLOGY* PAIN RELATED - testicular torsion: puberty age, Preh's sign negative - hydatid of Morgani: earlier age approx 10, small blue point of discolouration - epididymitis: post-pubertal/teenagers, Preh's sign relief, fever/discharge - orchitis: acute inflammatory painful testicle due to mumps or chronically from trauma or syphilis - fournier's gangrene: immunocompromised MASS RELATED - cryptorchidism (undescended testicle) - testicular cancer: seminoma, teratoma or yolk sac tumour - hydrocele - varicocele - spermatocele

⚠️*TESTICULAR TORSION* (TT) - most common *before or during puberty* - severe acute onset of unilateral testicular pain +/- n/v, testicle tenderness, high riding and swelling *- lifting of the testicle (Preh's sign) does not provide relief (unlike epididymitis where it does)*. - cremasteric reflex is absent (elevation of the testicle by stroking the inner thigh). - urgent urology review. U/S can be done but this would only add to delay. - treat manually or surgically <6hrs for 90% chance of preservation. At 12 hours the rate drops to 50% and 24 hours it drops to 10%. - if testis not viable: manage with orchiectomy😞 otherwise gold standard is *orchiopexy*😊 *HYDATID OF MORGANI*: - torsion of testicular appendage presents similarly to TT; but occurs earlier: more commonly *approximate age of 10*, has a *small blue point* of discoloured and extreme point of tenderness in the upper pole (rather than diffuse pain) and reflexes are positive. - it would be still safe to refer to urology *EPIDIDYMITIS*: - sudden, constant testicular pain with scrotal swelling, tenderness of the posterior region of the testis, *fever and discharge*. More common in post-pubertal age and cremasteric reflex and Preh's sign are present unlike TT. - management with *ceftriaxone 250 mg IM in a single dose PLUS doxycycline 100 mg BD for 10 days* (CDC guidelines). If gonorrhoea suspected; consider adding on azithromycin. Alternative antibiotics include levofloxacin 500mg for 10 days. - advise scrotal elevation (supportive underwear), analgesia until signs of local inflammation or fever have resolved. - advise testing for both patient and partners in GUM clinic particularly for gonorrhoea and chlamydia - can co-exist with orchitis *ORCHITIS* - acute: due to viral e.g. mumps commonly presenting 3-7 days after parotid enlargement or co-exist with epididymitis. - request anti-mumps antibodies; if negative, consider same day referral to the sexual health specialist - chronic causes: trauma or tertiary syphilis. *FOURNIER'S GANGRENE*: - immunocompromised e.g. HIV, diabetics - necrotising fasciitis of the external genitalia and/or perineum. Its a urological emergency requiring IV antibiotics and debridement *CRYPTORCHIDISM* - 1 in every 25 boys - normally; the testicles form inside the abdomen before slowly moving down into the scrotum about 1-2 months before birth - s/s: abdominal mass felt in inguinal region with no palpable mass felt in the associated hemiscrotum - management: *watchful waiting till 6 months of life* - *if >6 months; orchidopexy* required to move the testicles into the correct position inside the scrotum. This should be carried out before 12 months of age to avoid the risk of infertility and preserve spermatogenesis. - note: a pelvic U/S is appropriate only if testicles are bilaterally absent - complications; infertility, testicular cancer *TESTICULAR CANCER* - *seminoma*: solid slow growing painless irregular body in the testis. Age usually 30-40 years. Refer for scrotal U/S. Orchidectomy is main treatment. - *teratoma*: @ 20-30yrs "troops" - *yolk sac tumour* - *leydig cell tumour*: excess androgen leads to precocious pseudopuberty in boys >4yrs with prominent external genitalia *HYDROCELE*: - soft non-tender cystic swelling in the scrotum which transilluminates; can be found as young as 6 months of age - resolves usually by 1yr as the patent processus vaginalis closes - closely monitor; if still present @ 1yr or excessive discomfort; refer for surgery (excision of the hydrocele sac). *VARICOCELE*: - palpable "bag of worms" in the upper pole especially with standing after valsava. May be dull/aching, L>R moreso affected or just a painless mass - presents during *teenage years* - U/S confirms dilated pampiniform vessels - most common reversible cause for infertility in men - varicocele embolisation or surgery *SPERMATOCELE*: - cyst that contains sperm common in the head of the epididymitis occurs commonly after a vasectomy.

*VAGINAL BLEEDING* / *MENORRHAGIA* 1) determine age, LMP (if >2 weeks; ask about any possibility of pregnancy), if sexually active, if taking contraception 2) ask how much bleeding and when - if sexually active: ask about any fevers, pain during sex, cramping or abnormal discharge 3) bloods: FBC, hCG, TFTs, cervical screen, U/S (transvaginal), hysteroscopy with secondary care involvement. 👶 neonatal vaginal bleeding (usually tinge) within 2-3 days of birth: is considered normal due to withdrawal of oestrogen the child was exposed to in the womb. - note: adult related bleeding includes: fibroids, endometrial polyps, endometriosis, adenomyosis, cervical and endometrial cancer

👶 in infants: consider foreign object; which can precipitate them to *VULVOVAGINITIS* with blood tinged, foul smelling discharge. - gentle irrigation of the vagina with saline solution or water in the outpatient setting is usually sufficient to dislodge any foreign body. - if this is a recurrent problem; consider child abuse (see community medicine section) 👱‍♀️ teenagers/young adolescent *ANOVULATORY CYCLES* - most common cause *within the first 2 years post menarche* is due to an immature hypothalamic-pituitary-ovarian axis and subsequent lack of cyclic endometrial stimulation - s/s: irregular painless bleeding, episodes of amenorrhea and prolonged and/or heavy bleeding. - treatment: OCP or NSAIDs. *HORMONAL CONTRACEPTION* - breakthrough bleeding (BTB: between periods) may occur *within the first 3 months of use OR if missed the pill*. - it is attributed to insufficient oestrogen so endometrial integrity cannot be sustained - if experiencing BTB for >3 months; start NSAIDs and/or supplemental oestrogen for 1-2 weeks then follow up. If still no improvement, change pill formation to either higher oestrogen or different progestin. If still no improvement, try another form of contraception. *INTRA-UTERINE DEVICE* *PELVIC INFLAMMATORY DISEASE* - fevers, dyspareunia, lower abdominal pain and abnormal foul smelling discharge *PREGNANCY PROBLEMS* - ask LMP and if any BTB (present in pregnancy) - consider hCG testing - consider *ectopic pregnancy, miscarriage or placenta previae*: see next slide *OTHERS*: hyperthyroidism, coagulation disorders *DYSFUNCTIONAL UTERINE BLEEDING* - 40-60% with no pathology - *first line treatment is IUS* (Cochrane studies suggest this is more effective than oral treatment). Alternatives include oral contraceptives, transexamic acid, NSAIDs, endometrial ablation or hysterectomy.

*ACUTE DIARRHOEA IN MINORS* <4 weeks - factitious diarrhoea - food allergy - gastroenteritis - clostridium difficile colitis - haemolytic uraemic syndrome 1) how long have the s/s occurred for? 2) is it watery/greasy/bloody? 3) any associated abdominal cramps, vomiting, fevers/chills 4) any previous episodes on ingestion of certain types of foods like milk? gluten (wheat/rye/barley) 5) any recent travel, ingestion from meals, any close contacts with similar symptoms 5) any recent hospitalisations? use of antibiotics or laxatives? 6) any history of bowel problems: IBD? coeliac disease? IBS?

🔷 *FACTITIOUS DIARRHOEA*: psychological disorder whereby patients try to replicate symptoms (in this case taking laxatives) in order to gain sympathy and attention. Usually occurs in healthcare professionals. 🔷 *FOOD ALLERGY* 🔷 *GASTROENTERITIS* (90% of cause) - *campylobacter* (most common in Canada secondary to undercooked poultry; foecal/oral route: foul smelling watery diarrhoea followed by bloody diarrhoea, abdominal cramps and high fever) - *s.aureus* (exotoxin causes s/s quickly within hours of ingestion and resolve within 24-48 hours; vomiting major symptom after several hours of ingestion of improperly stored or heated foods containing high salt and or sugar) - *shigella*: bloody diarrhoea; can cause haemolytic uraemic syndrome - *salmonella* (eggs, poultry, affects the large bowel with watery diarrhoea, stool PH>5.5, leukocytes>10) - *e.coli*: improperly cooked hamburger meat - diarrhoea starts 3-4 days after ingestion and progresses to bloody diarrhoea. Lasts for a week. Can cause haemolytic uraemia syndrome - *bacillus cereus* (rice) - *clostridium* (antibiotic overuse) - *vibrio cholera* (contaminated water) - *vibrio vulnificus*: uncooked seafood: similar presentation to cholera with watery diarrhoea and abdominal pain. Pre-existing liver disease is a vulnerability; Treat with ciprofloxacin or doxycycline. - *rotavirus* (children), *norwalk virus* (travel) - *yersinia*: undercooked pork, RIF pain amoebae, cryptosporidium, protozoa should be suspected if diarrhoea persists >2 weeks or recent travel to an at-risk area. - *protozoa e.g. giardia* (campers drinking from lake/stream, etc: watery/secretory, malodorous, mushy, greasy stool, significant abdominal cramping, flatulence, foecal leukocytes<5, PH<5.5, treat with metronidazole, advise to boil water before drinking) - *amoebae*: e.g. entamoeba histolytica: predominant in central and south America, Africa and Asia; cramping, watery/bloody diarrhoea and weight loss presenting for between 1-2 weeks. - *cryptosporidium*: no blood or leukocytes in stool. - *tapeworms*: taenia solium (pork) and taenia saginata (beef) cause cysticerosis. Fish tapeworm e.g. Diphyllobrothium latum found in Scandinavia and the Great Lakes can also cause vitamin B12 deficiency with megaloblastic anaemia. Ingestion of raw/uncooked fish. 🔷 *CLOSTRIDIUM DIFFICILE COLITIS*: recent course of antibiotics? Manage with metronidazole (1st line in UK) or vancomycin (1st line in Canada) or fidaxomycin. 🔷 *HAEMOLYTIC URAEMIC SYNDROME*: a reason for *bloody stool in children*. Triad of: - thrombocytopaenia: PLT<150 - haemolytic anaemia: Hb<8 - acute kidney failure due to E.coli, shiga like toxin 0157:H7 differential: malrotation with volvulus (blood diarrhoea and acute abdominal pain in early infancy* general management: - if history of exotic travel abroad or recurrent/ prolonged: request stool ova, cysts, and parasites and give details of travel. Send three specimens a minimum of 2 days apart. These tests are not part of the normal stool culture.