Pediatrics Clerkship

CLINICAL PRESENTATION: 17 y/o M c/o with facial puffiness, fatigue, decreased appetite. Labs: low albumin UA: proteinuria. Renal biopsy: diffuse granular pattern of IgG and C3 along capillary loops. Electron microscopy: electron dense immune deposits along glomerular BM consistent with membranous nephropathy 1. What is the Dx? 2. What are causes? 3. What is presentation?

MEMBRANOUS NEPHROPATHY: nephrotic syndrome with edema + proteinuria due to accumulation of subepithelial immune deposits. 2. Causes: a. Primary MN: Anti-PLA2R1 autoantibodies (IgG to podocute membrane) b. Secondary MN -Infection: Hep B, symphilis, malaria -Disease: RA, Sjogren, SLE -Drug: NSAID, gold mercury, penicillamine -Malignancy -Misc: sickle cell, Guillain Barre 3. Presentation: a. edema b. proteinuria c. Hyperlipidemia & hypoalbuminemia

CLINICAL PRESENTATION: 9 y/o M c/o with oral lesions. Seems like tongue nodules have always been present but does not bother him. He is tall for his age with long arms and finger. PE: tongue is discrete, firm and rubbery. Look at pic. 1. What does he have? 2. What is the pathophys? 3. What is he risk for and what should he do for prophylaxis?

MEN 2B (MULTIPLE ENDOCRINE NEOPLASIA): 1 P + 3 M = pheochromocytoma + mucosal neuroma + marfanoid habitus + medullary thyroid cancer 2. Pathophys: germline RET mutation 3. Risk for medullary thyroid cancer so get prophylactic thyroidectomy at infancy

CLINICAL PRESENTATION: 17 y/o M c/o with fever and facial pain in RT cheek. 2 days ago had fever, myalgia and fatigue. Not UTD to vaccines. PE: tenderness and fullness in RT cheek, obscures angle of mandible. 1. What does this pt have? 2. What is the presentation? 3. How do you prevent?

MUMPS: viral illness that has affinity for glandular epithelium --> parotitis + orchitis (can impair fertility) + benign aseptic meningitis + sensorineural hearing loss (sometimes pancreatitis) 3. Prevention: MMR vaccine (Measles, mumps, rubella)

CLINICAL PRESENTATION: 3 hr old boy from mom w/o prenatal care has low birth weight. PE: large myelomeningocele. B/l lower extremities are flaccid, full fontanelle 1. What is myelomeningocele? 2. What will imaging show? 3. Explain physical exam

MYELOMENINGOCELE (spina bifida): failure of neural tube to close --> meninges and spinal cord exposed (lumbosacral protrusion with membranous sac containing meninges, CSF, spinal cord). --> paralysis, sensory loss, bowel/bladder incontinence 2. Imaging: CSF lost through open neural tube defect --> collapse of cranial structures --> Chiari II Malformation = small posterior fossa --> inferior displacement of medulla + cerebellum through foramen magnum --> limit CSF flow through 4th ventricle --> obstructive hydrocephalus (enlarged head circumference, full fontanelle)

CLINICAL PRESENTATION: 4 y/o M c/o with rash with few small round spots on left foot. Next day, has pustules and moist, itchy and painful. Sis also has small, round spots on hands. PE: 5-7 small papules + pustules on LT dorsal foot, some with transparent, yellow crusting 1. What is the diagnosis? 2. What are some organisms? 3. Risk factors? 4. Management:

NONBULLOUS IMPETIGO: begins with papules/pustules on face or extremities --> honey-colored crusting, 2. Organisms: S. aureus + Strep pyogenes 3. Risk factors: warm + humid climate, poor hygiene, pre-existing skin inflammation (scabies, atopic dermatitis) 4. Topical antibiotics (mupirocin). If widespread use cephalexin and dicloxacillin (also for bullous impetigo); contagious, so good hand hygiene

CLINICAL PRESENTATION: 16 y/o F c/o with nonbilious, nonbloody vomiting, nausea, watery diarrhea and abdominal pain. Went to school cookout and her friends have similar symptoms. PE: diffuse tenderness to deep palpation on abdomen 1. What is the Dx? 2. Cause? 3. Presentation? 4. Treatment?

VIRAL GASTROENTERITIS: from a. Norovirus: all age groups and in schools, cruise ships, day care, contaminated food b. Rotavirus: unvaccinated <2 3. Presentation: 1-2 days after exposure with nonbloody nonbilious emesis, watery diarrhea, abdominal pain (can have fever, h/a, malaise) 4. treatment: supportive + rehydration -Shigella sonnei: high fever, abdominal cramping, stools with mucus/blood --> febrile seizures and rapid onset (E. coli more common)

CLINICAL PRESENTATION: 1 y/o African American F c/o with both parents that have sickle cell traits and sis has sickle cell disease. Right now girl is healthy and doing well. Hemoglobin electrophoresis: HbA = 60%, HbS = 40%, HbF = 0% 1. What does normal labs look like? 2. What does sickle cell trait look like? 3. What does sickle cell anemia look like? 4. What is the most common complication of her disease?

SICKLE CELL SYNDROME: autosomal recessive 1. Normal labs: High HbA (++++), HbA2 +, HbF +, no HbS or HbC. 2. Sickle cell trait: HbA +++, HbA2 +, HbF + , HbS +++, no HbC -can lead healthy lives 3. Sickle cell anemia: no HbA, HbA2 +, HbF +, HbS +++, no HbC 4. Complication of sickle cell trait : sickling in renal medulla --> gross hematuria, Hyposthenuria (impaired concentrating ability)

CLINICAL PRESENTATION: 17 y/o M c/o with breast mass with pain below RT nipple and now RT breast enlarged. PE: prominent RT breast with palpable and tender 5 cm well circumscribed mound deep to RT nipple. No lymphadenopathy. External genitalia show tests without palpable mass. Labs: high B-hCG, high estradiol. 1. What is the dx? 2. What do labs show? 3. Next steps?

hCG-SECRETING GERM CELL TUMOR OF TESTIS: excess hCG suppresses testosterone production in Leydig cells and increases aromatase activity --> androgens converts to estrogens --> increase estrogen:androgens ration--> gynecomastia 2. Labs: has low/normal testosterone, elevated estradiol, high B-hCG 3. Next step: ultrasounds to exclude occult mass

CLINICAL PRESENTATION: 2 hr old M c/o with worsening cyanosis which doesnt improve with O2 administration. PE:tachypnea, subcostal retraction, normal 1st heart sound, single + loud second heart sound and no murmur. 1. What is the dx? 2. Presentation? 3. How is this patient surviving? 4. Management?

TRANSPOSITION OF GREAT VESSELS: abnormal rotation of great vessels --> aorta and pulm artery switch --> RT to LT shunt 2. Presentation: cyanosis, single S2 (no pulmonary component of S2), narrow mediastinum (egg on a string) , may have VSD 3. Surviving because of patent foramen ovale (no murmur), but sometimes VSD or PDA (cause murmurs) 4. Management: Not enough mixing so need to give PGE to open PDA and get echo

CLINICAL PRESENTATION: 15 y/o F c/o with hair loss. Wears hats and wigs as actress. PE: 3 X 5 cm of patchy hair loss in RT parietal region by several areas of uneven hair growth. Eyebrows are sparse. 1. What is dx? 2. Treatment?

TRICHOTILLOMANIA (HAIR-PULLING DISORDER): recurrent hair pulling --> irregular areas of hair loss + hair shafts of variable lengths + sparse eyebrows 2. Treatment: CPT -NOT tinea capitis = erythema -NOT alopecia areata =circular, smooth or total hair loss -NOT Telogen effluvium = triggered my illness, trauma --> premature shedding -> diffuse thinning of hair -NOT traction alopecia: prolonged tension on hair by hairstyle -NOT androgenetic alopecia = progressive hair thinning at vertex and frontal hairline

CLINICAL PRESENTATION: 12 y/o M c/o with b/l eye pain. Played in snow all day. Visual acuity: 20/40. PE: b/l conjunctivas with tearing. Fluorescein stain: diffuse punctate corneal staining b/l. 1. What is the dx? 2. Risk factors? 3. Presentation? 4. Diagnosis? 5. Management?

PHOTOKERATITIS: superficial corneal injury from excess UV light (playing in snow) --> 6-12 hrs later desquamation of corneal epithelial cells 2. Risk factor: no eyewear when playing in water, sand or snow. 3. Presentation: decreased vision, severe b/l eye pain, photophobia 6-12 hr after. Foreign body sensation. conjunctival erythema 4. Diagnosis: Fluorescein staining = punctate corneal staining 5. Management: pain relief + lubrication with erythromycin

CLINICAL PRESENTATION: 10 week old M c/o with fever. Had fever in ED 2 weeks ago. Labs: leukopenia and normocytic anemia (10.3). Negative bacterial cx. Now afebrile. Labs: 10.1 normocytic anemia. 1. What is the cause of the pt's anemia?

PHYSIOLOGIC ANEMIA OF INFANCY: pts age 2-3 months with normocytic anemia + NO increase reticulocyte (compensatory to hemolysis) . Cause: transient decline in Hb due to down regulation of EPO from sudden increase in tissue oxygenation at birth --> after 2-3 months EPO increases. Pathologic findings: -If <9 -Signs of hemolysis (high reticulocytes) -Microcytosis

CLINICAL PRESENTATION: 3 month old M c/o with spitting up, vomiting within minutes after every feed. Emesis is partially digested breast milk, but still eager to eat every 3 hrs. Growth chart: within normal limits and normal growth velocity 1. What is the Dx? 2. Presentation? 3. How to manage?

PHYSIOLOGIC GASTROESOPHAGEAL REFLUX: immature lower esophageal sphincter 2. Presentation: spit-up, normal weight gain, no pain/back arch = happy spitters 3. Management: a.upright positioning after feeds b. burping during feeds c. frequent small volume feeds d. Reassure and continue breastfeeding because protective against GER, but not enough vitamin D, so add vitamin D (cholecalciferol) (with or without GER) -if pathologic GER (irritability, poor feeding, weight loss), thicken feed or switched o hydrolyzed formula

CLINICAL PRESENTATION: 16 y/o F c/o after sudden LOC that lasted 20 ming. . Felt head throbbing after it hit floor. Normal BP and normal PE. 1. What is the diagnosis? 2. DDx?

PSYCHOGENIC PSUEDOSYNCOPE: a conversion disorder with sudden transient LOC without impaired cerebral perfusion (normal PE). -Patients report symptoms that occured during episode. -Psych disorder usually present 2.DDx: a. Cataplexy: emotionally triggered, sudden loss of muscle control, mimic syncope, happens in people with narcolepsy (excessive daytime sleep) - <2 min very brief b. Congenital long QT syndrome: arrythmia --> syncope - <2 min and abnormal EKG c. Seizure: prolonged LOC (postictal period), tonic-clonic, tongue lacerations d. Vasovagal syncope: LOC, nausea <2 min and pts can't describe events

CLINICAL PRESENTATION: 13 y/o forged moms signature to go on trip, talks back and argues. Has cigarette lighter, doesnt smoke and plays with it when hes stressed out. B average student and plays video games. Accused of being involved with suspicious fire at part. Always wanted to be firefighter. At 9 he played with matches and started fire to see how long it would take firefighters to arrive. 1. Dx?

PYROMANIA: impulse control disorder where they set fires to relieve internal tension + fascinated with fire

CLINICAL PRESENTATION: 15 month old M c/o with bowed lefs. No pain and can play outside. PE: tibiofemoral outward bend that results in gap b/w knees 1. What is this? 2. How do you manage?

This is GENU VARUM: bowlegs which is normal from birth --> 2 y/o 2. Just observe and reassure that it gets better at age 2

CLINICAL PRESENTATION: 20 month old M c/o with lethargy. Yesterday had vomiting and diarrhea which parents gave loperamide. This morning they couldn't rouse him. He is hypotension, low respiratory rate, doesn't move spontaneously. 1. Why is he like this? 2. What is the triad? 3. How to treat?

ALTERED MENTAL STATUS DUE TO OPIOID INTOXICATION: from loperamide use (antidiarrheal that stimulates mu receptors in GI tract --> reduce peristalsis). In HIGH doses --> cross BBB = opioid like symptoms = respiratory depression, miosis (pupils <2 mm) 2. Opioid intoxication triad: a. Respiratory depression (<10) b. Miosis (pupil <2 mm) c. Altered mental status 3. Treatment: Naloxone - opioid antagonist to improve symptoms before you need ventilation

CLINICAL PRESENTATION: 14 y/o F had no menarche and no sexually active. PE: tanner 1 breast. Small nonreducible mass in LT inguinal area. No pubic hair and normal external genitalia. The vagina ends in a blind puch. Sonogram: no uterus, cervix and ovaries. Karyotype: 46 XY. 1. What is the dx? 2. Presentation? 3. Treatment?

ANDROGEN INSENSITIVITY SYNDROME: X linked mutation in androgen receptor --> free testosterone goes through aromatase becomes estrogen 2. Presentation: Female presenting with 46, XY, breast, no pubic hair, female external genitalia, no uterus, cervix, upper 1/3 of vagina, cryptorchid testes. 3. Treatment: Elective gonadectomy because cryptorchid testes have increased risk of testicular cancer (dysgerminoma, gonadoblastoma) AND gender identity/assignment counseling

CLINICAL PRESENTATION: 5 y/o M c/o w/ bright red urine. Has nasal congestion, sore throat an vomiting last week. PE: diffuse flat, red pinpoint macules and raised ecchymoses along lower extremity + trunk. CBC: anemia, low platelets, low WBC 1. What is the dx? 2. Presentation? 3. Next step? 4. What are some causes?

APLASTIC ANEMIA: hematologic stem cell damage --> bone marrow failure --> pancytopenia (anemia, low WBC and platelets) -Even though anemic, still low reticulocytes 2. Presentation: fatigue, pallor, purpura, mucosal bleed, petechiae, infection 3. Next step: bone marrow evaluation --> hypocellular marrow with lots of fat 4. Causes: radiation & drugs, viruses (EBV, HIV, hep), Fanconi anemia, Idiopathic

CLINICAL PRESENTATION: 3 day old M c/o with bradycardia, desaturation. Premature at 29 weeks . Has RDS --> intubated --> surfactant given. Extubated and antibiotics stopped. PE: cessation of respiratory effort that lasts 25 sec, HR at 85, SPO2 72. Recovers spontaneously and now normal vitals. CXR: resolving granular opacities b/l . 1. What is the diagnosis? 2. Explain imaging 3. Treatment?

APNEA OF PREMATURITY: premature --> immature respiratory central respiratory centers in brainstem --> periods of >20 sec without respiratory effort + bradycardia + desaturation on day 2-3 life 2. Usually normal CXR but this pt has resolving RDS. Clinical diagnosis and no additional test needed 3. Treatment: caffeine (methylxanthinine that chemically stimulates respiratory drive) + noninvasive positive airway pressure/nasal cannula

CLINICAL PRESENTATION; 18 y/o M c/o with worsening intermittent dull occipital headaches brought on by physical activity, cough, straining, nausea, dizziness and resolves. Look at MRI. 1. What is the dx? 2. Presentation? 3. What is this pt at greatest risk for?

ARNOLD CHIARI 1 MALFORMATION: inferior displacement of cerebellar tonsil through foramen magnum 2. Presentation: -asymptomatic through childhood and presents in adolescence with occipital headache -dizziness and worsen pain with activity or valsalva (pressure of cerebellar tonsils on foramen magnum) -Increased ICP -Cranial neuropathies from brainstem compression (dysarthria) -Cerebellar dysfunction (ataxia) 3. Pt is at greatest risk for Syringomyelia: cyst (syrinx) at spinal cord usually cervical regions (may present as scoliosis in kids) --> paresthesia, weakness -Chiari II: herniation of cerebellar tonsils + vermis + inferior displacement of medulla + associated with myelomeningocele -Chiari III: most severe and involved herniation into encephalocele

CLINICAL PRESENTATION: 18 month old c/o with fever, achiness, fatigue, comitied. No 12- and 15- month vaccine. PE: irritable, closes eyes during eye exam. When flexes neck, kid flexes the knees. CSF: protein 75, Leukocytes 150, RBC 2, normal glucose 1. What is the dx? 2. Describe CSF

ASEPTIC (VIRAL) MENINGITIS BY MUMPS: increased risk b/c didn't take MMR vaccine (taken at age 1 and 4 y/o) --> fever, irritability, vomiting, photophobia, positive Brudzinski sign 2. CSF: normal glucose, elevated protein, and high leukocytosis

CLINICAL PRESENTATION: 7 y/o Vietnamese M had splenectomy last year for anemia + jaundice. Labs: anemia, high reticulocytes. Look at peripheral blood smear 1. What is the dx? 2. Explain the peripheral smear.

ASPLENIA OR FUNCTIONAL HYPOSPLENISM (from sickle cell splenic autoinfarction, sarcoidosis infilitrative disorder, thrombosis): see HOWELL-JOLLY BODIES (single, round, blue inclusion in RBC) -These represent retained RBC nuclear remnants that are usually removed by spleen

CLINICAL PRESENTATION: 6 y/o F PMH od Down Syndrome has behavioral changes. Stopped running, tripped frequently while walking and accidently knocked toys. Recent frequent urinary accidents. PE: ataxic gait, decreased muscle tone. Hyperreflexic b/l ankle DTR. Positive Babinski 1. What is the dx?

ATLANTOAXIAL INSTABILITY: excess laxity in posterior transverse ligament --> increase mobility b/w C1 and C2 --> compression of spinal cord --> UMN findings (positive Babinski, hyperreflexia, spasticity), weakness, ataxia, urine/fecal incontinence, vertebrobasilar symptoms (dizzy, vertigo, imbalance, diplopia) -Associated with Down Syndrome

CLINICAL PRESENTATION: 21 day old F c/o with constipation. Pt has to be awakened for almost every feed and falls asleep quickly. Meconium at 50 hrs of life. Mom didnt have routine prenatal care and girl born at home. PE: neonate with slightly enlarged fontanelle and mild hypotonia. Jaundice from head to abdomen. 1. What is the dx? 2. Presentation? 3. Dx? 4. Treatment?

CONGENITAL HYPOTHYOIDISM: asymptomatic at birth (transplacental maternal T4 and newborn screen) 2. Presentation: deceased GI motility, delayed meconium (>48 hrs), jaundice (hypothyroidism induced effect on conjugation), poor feeding, slow/poor weight gain, too sleepy, hypotonia, macroglossia (mucopolysaccharide deposition due to decreased degradation) and large fontanelles (delayed bony maturation) 3. Dx: Increased TSH and decreased T4 4. Treatment: levothyroxine

CLINICAL PRESENTATION: 2 y/o M c/o for visit. At 4 month, hypotonic and didnt sit up unsupported until 10 months. 2 months ago, spasticity, dystonia with involuntary movements of hands + feet. Bites fingers and hands, pinch himself and bangs limbs against wall. PE: nonverbal and hypertonic, hyperreflexia of upper and lower extremities and extensor plantar reflexes b/l. 1. What is the dx? 2. Explain pathophys 3. Presentation?

LESCH-NYHAN SYNDROME: x-linked recessive caused by deficiency of hupoxanthine-guanine phophoribosyltransferase, an enzyme involved in purine metabolism --> accumulation of hypoxanthine and uric acid --> affect dopaminergic pathway 3. Presentation: a. Infancy: delayed milestones + hypotonia b. Early kid: intellectual symptoms (dystonia, chorea), Pyramidal symptoms (spasticity, hyperreflexia), self mutilation c. Late: gouty arthritis

CLINICAL PRESENTATION: 1 y/o M c/o for lead in his blood. 1. What are risk factors for lead poisoning? 2. Presentation? 3. Management?

LEAD POISONING: 1. Risk factors: a. home built before 1978 b. Pica or mouthing behaviors 2. Presentation: a. Asymptomatic b. Abdominal pain, constipation c. Cognitive problems d. Encephalopathy 3. Management: a. Get venous sampling after capillary sample b. Environmental surveillance + notify DOB c. Nutritional counseling d. Chelation therapy if lead >45 (Dimercaptosuccinic acid is 45-69 Dimercaprol + EDTA if >70 or encephalopathy)

CLINICAL PRESENTATION: 7 y/o M c/o with chronic LT thigh pain and limp. PE: limited ROM of LT hip and atrophy of LT proximal thigh muscle. Look at XRAY 1. What is the dx? 2. Presentation? 3. Imaging? 4. Management?

LEGG-CALVE-PERTHES DISEASE: idiopathic avascular necrosis of femoral epiphysis -In boys 3-12 2. Presentation: leg pain or limp, limited ROM (internal rotation and abduction), atrophy of proximal thigh muscle 3. Imaging: flattened and fragmented femoral head 4. Management: brace/splint (surgery if only femoral head is not in acetabulum)

CLINICAL PRESENTATION: 8 y/o M c/o with difficulties in school, difficulty focusing, doesn't listen, low IQ, small head circumference. Has resolved heart murmur. PE: thin upper lip + short palpebral fissures 1. What is the diagnosis? 2. How is presentation?

FETAL ALCOHOL SYNDROME: intrauterine alcohol use --> inhibit NMDA + hyperactivates GABA --> deficits in corpus callosum, cerebellum and basal ganglia development --> abnormal reflexes, tone, coordination (difficulty writing/clumsiness) + decrease frontal lobe + amygdala dysfunction --> problem with executive function, impulse control, emotion regulation + ADHD features -cognitive impairment -seizures -learning disability -smooth philtrum -thin vermillion border -small palpebral fissure

CLINICAL PRESENTATION: 16 y/o M c/o with SOB during physical activity. Tired and weaker. PMH of sickle cell disease and had episode of acute chest syndrome 6 months ago. Takes oxycodone. Labs: anemia, high MCV 1. What is the dx? 2. Explain labs. 3. What are other causes?

FOLATE DEFICIENCY: in sickle cell pts, they have chronic hemolysis --> folate deficiency since bone marrow uses folate to produce RBC. 2. Labs: macrocytic anemia, low reticulocyte (ineffective erythropoiesis), hyper-segmented neutrophils, low serum folate 3. Causes of folate deficiency: a. chronic hemolysis (sickle cell) b. poor diet c. Malabsorption (gastric bypass) d. Meds (methotrexate, phenytoin) Trick: macrocytic anemia in sickle cell = folate

CLINICAL PRESENTATION: 1 month old M c/o with blood streaked stools. Had 5 yellow seedy stools but became loose and streaked with blood and mucus. Spits up small amount of breast milk with every feed. No anal fissure and + FOBT. 1. What is the diagnosis? 2. How does it present? 3. Risk factors? 4. Management: -if breastfed: restrict dairy or soy from maternal diet -if formula fed: switch to hydrolyzed formula

FOOD PROTEIN-INDUCED ALLERGIC PROCTOCOLITIS: non IgE mediated reaction to cow's milk (breast milk may have it from maternal diet) --. eosinophilic inflammation of rectosigmoid colon 2. Presentation: well-appearing baby with painless bloody stool age 1-4 weeks (up to 6 months). -Pt's spit up may be from physiologic GE reflex. 3. Risk factors: a. eczema b. Family hx of food allergy

CLINICAL PRESENTATION: 5 y/o M c/o with behavioral difficulties, disruptive and flaps/waves hands. First word at age 19 and walked at 20 months. Mom also had learning difficulties. PE: prominent forehead and chin, mild hypotonia, joint hypermobility in b/l lower extremities. 1. What is the diagnosis? 2. Explain pathogenesis. 3. How does it present? 4. How do you diagnose?

FRAGILE X: X linked disease where trinucleotide (CGG) repeat in FMR1 gene --> most common inherited form of intellectual disability 3. Presentation: prominent chin/forehead, protruding ears, macroorchidism, hypotonia, macrocephaly, joint hypermobility. speech/motor delays, ADHD (difficulty focusing, task switching) and autistic features (hand flapping), anxiety, self injurious behavior 4. Diagnosis: FMR1 DNA analysis (PCR or Southern blot)

1. What is the organism that is a vector for Lyme disease? 2. What organism causes it? 3. How do you remove it? 4. What are the 5 criteria of Lymes prophylaxis? 5. What is the prophylaxis for Lymes? 6. What is the earliest sign of Lyme disease?

1. Ixodes scapulars (deer tick) 2. Borrelia Burgdorferi 3. To remove it: grasp with forceps as close to skin as possible --> pull up without twisting 4. What are the 5 criteria that must be met to give prophylaxis: a. Deer tick identified b. Tick attached >36 hrs or engorged c. Started within 72 hrs of tick removal d. Local B. Burgdorferi infection >20% e. No contraindications to doxycycline (pregnancy) 5. Prophylaxis: single dose of doxycycline 6. Earliest sign of Lyme: erythema migrans = bulls eye

CLINICAL PRESENTATION: 6 month old M c/o for concern for highly allergic foods (peanuts, shellfish, eggs). PE: small, dry, scaly patches of skin over extensor surfaces of extremities. 1. Is this high or low risk introduction to highly allergic foods. 2. How do you manage these kids?

1. This is low risk to highly allergic foods: no IgE mediated food allergy, tolerates typical first foods, mild eczema and family hx of atopy 2. Management: early intro of foods at age >4-6 months with initial taste at home -If high risk (severe refractory eczema, known/suspected IgE mediated food allergy) --> refer for allergy testing and consider in-office feeding

CLINICAL PRESENTATION: 6 y/o M c/o with increasingly inattentiveness, states into space and blinks for several seconds in class. When cleaning room, he would pause. When questioned by mom, pt ignores her and blankly stares. 1. What is the dx? 2. Presentation? 3. How to diagnose? 4. Treatment?

ABSENCE SEIZURES: episodes of impaired concentration (pause, blank stare) that last <20 seconds in kids 4-10 y/o. Are unresponsive to vocal/tactile stimulation. Can also have motor automatisms like lip smacking, chewing, eye lid movement. 3. Diagnosis: EEG: 3 Hz spike wave 4. Treatment: Ethosuximide: blocks T type Ca2+ channels in thalamus --> inhibit action potentials

CLINICAL PRESENTATION: 8 month old M c/o with shortening of arms + legs, head slowly enlarging. PE: macrocephaly, prominent brow bones, short and plump, low muscle strength, hyperrelexia. XRAY of lateral skull: midfacial hypoplasia and frontal prominence XRAY of spine: narrow interpedicular distance. 1. What is the diagnosis? 2. Presentation? 3. Next step?

ACHONDROPLASIA: failure of longitudinal bone growth (endochondral ossification) --> short limbs 2. Presentation: short limbs, large head, frontal bossing, brain stem compression + spinal stenosis --> increased deep tendon reflexes + decreased muscle strength 3. Next step: CT head to see if foramen magnum narrows which can compress cervical medulla --> hypotonia, quadriparesis, apnea, sudden infant death

CLINICAL PRESENTATION: 6 y/o M c/o with nasal discharge, nasal congestion cough. Has asthma that he uses inhaled corticosteroid. PE: yellow mucus dripping in posterior nasopharynx. Nasal turbinates are red and swollen. Maxillary sinuses are tender to palpation. 1. What is the dx? 2. What is the presentation? 3. What are the top 3 pathogens involved? 4. What is the treatment?

ACUTE BACTERIAL RHINOSINUSITIS: inflammation within sinus cavity impair mucus drainage --> secondary bacterial infection. 2. Presentation: cough + nasal discharge >10 days, fever, facial tenderness, headache 3. Pathogens: a. Nontypeable Haemphilus influenza b. Strep pneumo c. Moraxella catarrhalis 4. Treatment: Amoxicillin +/ clavulanate

CLINICAL PRESENTATION: 5 y/o F c/o with abdominal cramp, diarrhea (started watery --> mucus), fever. other kids in daycare had similar diarrhea. PE: Abdomen diffusely tender. FOBT + 1. What is the dx? 2. What are the most common pathogens? 3. Treatment?

ACUTE GASTEROENTERITIS: fever, abdominal cramp, diarrhea. 2. Common: viral -But if mucus and blood = bacterial (Salmonella and E. coli) 3. Treatment: Supportive care (oral rehydration) and close followup. -DONT give antibiotics = resistance + risk of life threatening hemolytic uremic syndrome (HUS) due to E coli O157:H7)

CLINICAL PRESENTATION: 4 y/o M c/o with nausea, vomiting, diarrhea, abdominal pain. Home repainted. Pill bottles open. PE: tired, responsive only to painful stimuli. Weak peripheral pulses and capillary refill is 4 seconds. Has hematemesis. Labs: anion- gap metabolic acidosis CXR: small opacities in stomach and duodenum 1. What did the kid eat? 2. Causes of anion gap metabolic acidosis? 3. Imaging? 4. Treatment?

ACUTE IRON POISONING: causes direct mucosal damage to intestinal tract --> abdominal pain, vomiting, diarrhea, hematemesis/melena --> hypovolemic shock --> Hypotension, tachycardia, prerenal azotemia --> METABOLIC ACIDOSIS 3. Imaging: small opacities in stomach + intestine (iron tablets) 4. Treatment: Deferoxamine chelation therapy -Aspirin: tinnitus = most early sign and cant be seen in XRAY

CLINICAL EVALUTAION: 4 y/o M c/o with increasing fatigue. 3 wks ago had fever, congestions --> resolved but now poor appetite and weight loss. Less active and refusing to walk. Emigrated from Kenya 2 yrs ago. PE: enlarged nontender lymph nodes in cervical, axillary inguinal region. Deep palpation along middle b/l thighs tenderness. Multiple petechiae. Labs: low platelets 1. What is the diagnosis? 2. Presentation? 2. What do labs show? 4. How to diagnose? 5. Where can it spread to? 6. Genetics?

ACUTE LYMPHOBLASTIC LEUKEMIA (ALL): uncontrolled growth of malignant cells (lymphoblasts) in bone marrow 2. Presentation: B symptoms (fever, weight loss, poor appetite), pallor, bruising/petechiae, bone pain (refusal to walk, pain with deep palpation), lymphadenopathy, hepatosplenomegaly 3. Labs: pancytopenia = thrombocytopenia, anemia, low WBC 4. Diagnosis: bone marrow biopsy = increased lymphoblasts, TdT + (marker of pre-T and B-cells), CD10+ if BALL 5. Can spead to: CNS + testis 6. Genetics: -Good prognosis: t(12;21) -Bad prognosis = Philadelphia chromosome t(9:22)

CLINICAL PRESENTATION: 2 yo F c/o with foul-smelling drainage in LT ear. Had amoxicillin for otitis media 3 weeks ago. Now has fever. PE: dried, crusted drainage at entrance of external canal, perforated erythematous LT TM with some purulent drainage. 1. What is the diagnosis? 2. What are the pathogens? 3. What are treatments? 4. Risk factors?

ACUTE OTITIS MEDIA W/ PERFORATION: inflammed + perforated TM --> otalgia, irritability, fever 2. Pathogens: Strep pneumonia, nontypeable H flu, moraxella catarrhalis. 3. Treatment: a. 1st line: amoxicillin b. 2nd line: amoxicillin-clavulanate c. Penicillin-allergy: clindamycin, azithromycin 4. Risk factors: a. age (6-18 months) b. lack of breastfeeding c. Day care d. smoke exposure (increased bacterial colonization of nasopharynx) -Avoid fluoroquinolones (cipro) in kids --> risk of tendinopathy -Fluconazole for refractory otitis externa by fungal infection -Vancomycin to treat mastoidites = otalgia, feve, postauricular erythema + tenderness with outward displacement of outer ear -Otitis media with effusion: no Tm inflammation in 6-24 months b/c fluid accumulation in middle er due to narrow straight eustachian tubes that drain poorly. Esp happening after otitis media. PE: air-fluid levels posterior to TM, poor TM mobility on pneumatic insufflation. Can be observed with follow-up --. can cause chronic OME -Chronic OME: can cause speech delay and hearing loss. Treatment: tympanostomy tube placement

CLINICAL PRESENTATION: 12 y/o F c/o with poor posture. She is a gymnast and her shoulders seem uneven when she stands. Mom had scoliosis. PE: RT thoracic scoliosis with Cobb angle 1. What is the dx? 2. Presentation? 3. How to diagnose? 4. Risk factors?

ADOLESCENT IDIOPATHIC SCOLIOSIS: lateral curvature of spine at >10 2. Presentation: a. Rib hump b. U/L thoracic/lumbar prominence on forward bend test 3. To diagnose: Spine xray + measure Cobb angle (>10 = scoliosis) 4. Risk factors: a. Female b. <12 c. Premenarchal d. Skeletal immaturity e. Severe curvature -Physical activity and + Family hx NOT associated with scoliosis curve progression

CLINICAL PRESENTATION: 9 Y/O M c/o with oozing skin lesions on legs after rash with pain + pruritic. Went camping and applied sunscreen + skin repellants. PE: well-demarcated tan line above knee + scattered erythema with overlying vesicles in a linear arrangement below the knees. Some lesions appear wet and others have thin, crusted coating. 1. What is the diagnosis and explain pathophys 2. What are some causes? 3. How does it present? 4. Treatment?

ALLERGIC CONTACT DERMATITIS: T-cell mediated Type 4 hypersensitivity reaction. Prior exposure to allergen --> T cells proliferate --> delayed inflammatory response 2. Causes: urushiol (poison ivy, oak, sumac), nickel (jewelry, bet buckles), neomycin antibiotic 3. Presentation: linear lesion with overlying vesicles, pruritus, erythematous streaks --> weeping drainage + crusting 4. Treatment: corticosteroids

CLINICAL PRESENTATION: 4 month old M was in NICU for hypoglycemia and poor feeding. PE: enlarged tongue and RT leg larger in circumference than left. 1. What is the dx? 2. Explain pathophys 3. Presentation? 4. What are 2 complications? 5. What are 2 screenings you should do?

BECKWITH-WIEDMANN SYNDROME: alteration on chromosome 11q15 --> decrease IGF-2 --> overgrowth disorder 3. Presentation: a. macrosomia (rapid growth until late childhood) b. Omphalocele or umbilical hernia c. Microglossia d. Hemihyperplasia (enlargement of 1 side of body) e. Visceromegaly f. Hypoglycemia (from fetal hyperinsulinemia) 4. Complications: a. Hepatoblastoma c. Wilms Tumor 5. Screenings: a. Abdominal U/S and AFP every 3 months from birth-4 b. Renal U/S: every 3 months from 4-8

CLINICAL PRESENTATION: 3 wk old M c/o with worsening jaundice, pale stool and hepatomegaly. Maternal blood type is O +. Labs: high total and direct bilirubin. B+ blood type. Normal ALT and AST. 1. What is the diagnosis? 2. Presentation? 3. How do you diagnose? 4. How do you manage?

BILIARY ATRESIA: progressive fibrotic obliteration of extrahepatic bile ducts --> normal conjugation but can't be excreted due to mechanical obstruction --> high direct bilirubin. 2. Presentation: Jaundice, acholic stool (no biliary pigment), dark urine (renal excretion of conjugated bilirubin), normal LFTs. 3. Diagnose: RUQ U/S = abnormal or no gallbladder but do Liver biopsy to exclude alternative diagnosis because if delayed >8 weeks, higher risk of liver transplant. Histology: intrahepatic bile duct proliferation, portal tract inflammation, edema and fibrosis 4. Management: surgical hepatoportoenterostomy (Kasai procedure) --> liver transplant -NOT isoimmune hemolytic disease from mom OR hereditary spherocytosis (splenomegaly)= neonatal hemolysis --> high unconjugated bilirubin -NOT Alpha-1 antitrypsin (AAT) deficiency = rare cause of neonatal cholestasis due to intracellular accumulation of AAT + high LFTs

CLINICAL PRESENTATION: 8 y/o c/o with abdominal pain, vomit. PE: scleral icterus, epigastric tenderness. PE: abdominal mass in RUQ. Labs: high total and direct bilirubin, high amylase lipase. U/S: extrahepatic cystic mass and normal gallbladder 1. What is the diagnosis? 2. What is the triad? 3. Explain labs. 4. How do you diagnose? 5. Complications? 6. Treatment?

BILIARY CYST leading to ACUTE PANCREATITIS: dilation of biliary tree 2. Triad: abdominal pain, RUQ mass, jaundice ; In neonates: jaundice, acholic stool, dark urine, hepatomegaly 3. Labs: have anonymous pancreaticobiliary junction --> long channel connecting pancreatic duct to CBD --> cholestasis (high conjugated bilirubin) + pancreatitis (high amylase + lipase) 4. Diagnosis: U/S --> CT or MRCP 5. Complications: a. Cholangiocarcinoma b. Acute cholangitis c. Pancreatitis d. Stone Formation 6. Treatment: Cyst resection to prevent malignancy -Biliary Atresia: infancy with obstructive jaundice and problem with gallbladder

CLINICAL PRESENTATION: 12 y/o M c/o with painful LT neck mass. 1 month ago had fever and URI. Has leakage of fluid from hole below mass. PE: cystic LT neck mass and small pit anterior to sternocleidomastoid muscles leaking mucopurulent fluid. 1. Dx? 2. Where is it located? 3. Treatment

BRANCHIAL CLEFT CYST: lateral cystic neck mass from second branchial arch --> mass b/w internal and external carotid arteries and anterior to sternocleidomastoid muscle -became detected when secondarily infected after URI --> erythema, tenderness and drainage from sinus tract 3. Treatment: surgery -This is NOT Actinomyces lymphadenitis: submandibular mass with draining sinus tract (sulfur granules) after dental infection or trauma in IMS pts -This is NOT Laryngocele: outpouching of laryngeal mucosa --> protrudes through thyrohypid membrane = lateral neck mass. Enlarges with valsalva. Acquires seen in glassblowers or trumpet players from intense oropharyngeal pressure

MANAGEMENT: What are breastfeeding contraindications based on mom and baby?

BREASTFEEDING CONTRAINDICATIONS: 1. From mom: a. Active TB b. HIV c. Herpetic breast lesion d. Active varicella infection e. Chemo or radiation f. Active substance use disorder (not methadone!) 2. Form infant: a. Galactosemia

CLINICAL PRESENTATION: 4 day old M c/o with scleral icterus and jaundice. He has just been breastfed and nurses for 10 min every 4 hrs. Last stool was yesterday and dark green. Did not void today. Labs: total bilirubin 14 and direct bilirubin 0.9. 1. What is the DX? 2. Next step?

BREASTFEEDING JAUNDICE: exaggerated unconjugated (indirect > direct) in 1st week of life due to insufficient intake of breast milk, infrequent feeding, crackle/clogged nipples OR poor latch. The decreased intake --> delayed stooling --> decreased bilirubin elimination --> increased enterohepatic circulation + dehydration (decreased urine output <4 wet diapers a day) --> decreased bilirubin delivery to liver --> increased indirect bilirubin + jaundice. Breastfeeding: 1. Stage I Lactogenesis/secretory initiation: colostrum 2. Stage II Lactogenesis/secretory initiation: maternal milk production -Should feed for >10-20 min per breast every 2-3 hrs -1st week of life: # of wet diapers a day = baby's age in days (4 day old = 4 wet diapers) -normal: lose up to 7% of birth weight in 1st 5 days -this is NOT Breast milk jaundice: age >1 week due to increase Beta-glucuronidase in breast milk --> deconjugation of intestinal bilirubin, increased enterohepatic circulation (no signs of dehydration or feeding difficulty) 2. Next step: breast feed every 2-3 hrs -NOT phototherapy (threshold for 4 day old is >20. Exchange transfusion is for >25 or kernicterus)

CLINICAL PRESENTATION: 4 week old M at delivery had breathing difficulty and needed vent and then weaned to nasal cannula. Has been getting TPN and now enteral feeds introduced today. Pulse ox: 90% on 3L/min O2. PE: subcostal retraction and b/l faint crackles 1. What are they at risk for? 2. When is it diagnosed? 3. What does it look like on CXR? 4. What is treatment? 5. DDx?

BRONCHOPULMONARY DYSPLASIA (BPD): chronic lung disease of prematurity since premie on prolonged O2. -Old BPD: prolonged mechanical vent & hypoxia --> chronic inflammation --. fibrosis & interstitial edema -New BPD: arrest of pulmonary development in premature neonates --> reduced # and septation of alveoli 2. BPD is diagnosed when premie needs >4 weeks of supplemental O2. May also have tachypnea, resp distress 3. CXR: diffuse haziness -in old BPD: hyperinflation, cystic/fibrotic changes 4. Treatment: nutritional support, fluid resuscitation, avoid mechanical lung damage 5. DDx: -Pulmonary Interstitial emphysema (PIE): air dissecting from alveoli into interstitial space when lung compliance is decreased and high airway pressures need to support breathing -Bronchiectasis: mucus plugging esp in cystic fibrosis but also with delayed passage of meconium -Refeeding syndrome (low phosphate, CHF) when nutrition is reintroduced after malnutrition.

CLINICAL PRESENTATION: 8 month F c/o after fatigue, anemia that needed transfusion of packed RBC. PE: splenomegaly. Hb electrophoresis: 5% Hb A2, 95% Hb F. Pt might need chronic RBC transfusion. 1. What is the Dx? 2. When does it present and how? 3. What are the long term effects? 4. How does management look like?

Beta-Thalassemia Major: mutation in both beta globin genes --> no beta globin = no HbA (2 alpha + 2 beta) but increased Hb F (2 alpha + 2 gamma) and increased Hb A2 (2 alpha and 2 delta). -Normally: Fetal hemoglobin (HbF) is increased in first few months of life until HbA takes over 2. Presentation at 6-12 months: microcytic anemia, splenomegaly, jaunidce, dark urine (splenic hemolysis of RBC) 3. If untreated --> extramedullary hematopoiesis = skeletal abnormalities 4. Management: transfusion but increased risk for iron overload so use chelation therapy to avoid damage to kidney,, liver, endocrine survival.

CLINICAL PRESENTATION: 4 y/o F c/o with painful swelling in groin which became red and tender. Family trip to china. Has 2 dogs, cat, turtle. PE: small, nontender papule on anterior LT thigh. Tender soft freely mobile LT inguinal lymph node with erythema. 1. What is the dx? 2. Presentation? 3. Treatment?

CATSCRATCH DISEASE: caused by Bartonella henselae (gram - bacillus) carried by cats (cat bite they can't recall) 3. Presentation: Unnoticed Papule/skin lesion + ipsilateral lymphadenopathy 4. Treatment: Azithromycin -Trip: Papule + ipsilateral lymphadenopathy + cat = Catscratch disease

CLINICAL PRESENTATION: 8 y/o M c/o with heel pain during bball season. PE: normal gait but can't stand directly on heels without pain. B/l heels have mild swelling and bases of both are tender. Dorsiflexion of ankle elicits pain. 1. What is the diagnosis? 2. How does it present? 3. What test can you do? 4. What is the treatment?

CALCANEAL APOPHYSITIS (SEVER DISEASE): overuse injury caused by repetitive microtrauma to calcaneal apophysitis in kids 8-12 who run or jump. 2. Presentation: B/l heel pain and swelling, tight Achilles tendon = decreased gastrocnemius/soleus flexibility + limited ankle dorsiflexion 3. Test: calcaneal compression test: tenderness with squeezing heel and on palpation at base of the heel. 4. Treatment: NSAIDs, ice, limited activity

CLINICAL PRESENTATION: 17 y/o M c.o with abdominal pain, diarrhea (watery loose stool), periumbilical pain that moved to RLQ. Has mucus containing loose BM, nausea, fever. Younger bro also had diarrhea with bloody streaks. PE: RLQ tenderness, no rebound, no rigidity. Labs: high WBC with elevated neutrophils 1. What is the dx? 2. Presentation? 3. What region is this? 4. Images? 5. How to dx? 6. Treatment??

CAMPLYOBACTER GASTEROENTERITIS: transmission via undercooked poultry 2. Presentation: -Fever. -Abdominal pain, nausea, vomiting -watery, mucoid, bloody diarrhea -Pseudoappendicitis (acute ileocecitis --> RLQ pain) -Sick contact 3. Infectious Ileocecitis caused by Yersinia Entercolitica and Campylobacter jejuni -Appendicitis does NOT have watery diarrhea that becomes mucoid diarrhea and there's a sick contact 4. Images: U/S, CT scan = ileocecal inflammation and mesenteric lymphadenopathy with sparing of appendix 5. To diagnose: stool culture 6. Treatment: supportive but if severe to high risk use Antibiotics 7. 2 Complications: -Guillain Barre -Reactive arthritis

CLINICAL PRESENTATION: 6 y/o F c/o with breast and pubic hair. PE: pubic hair Tanner stage 3 and breasts Tanner stage 3. Labs: bone age consistent with 8 y/o Basal LH is high. 1. What is the dx? 2. Presentation? 3. What are some causes? 4. How to evaluate? 5. What is the treatment?

CENTRAL (GONADOTROPIN-DEPENDENT): premature activation of hypothalamic-pituitary gonadal axis in girls <8 and boys <9 -has elevated LH level at baseline (from secretion of GnRH or by GnRH stimulation test) -different from Peripheral PP which has elevated sex hormones --> suppresses LH levels 2. Presentation: early breasts, pubic hair, advanced bone age (increased height velocity) but estrogen stimulates growth plate closure so will be shorter than expected adult age. 3. Causes: GnRH secreting hypothalamic hamartoma, FSH/LH secreting pituitary adenoma or mass effect or increased ICP from craniopharyngioma 4. Evaluate: MRI of brain for hypothalamic or pituitary tumor 5. Treatment: if CNS tumor excluded, GnRH agonist therapy

CLINICAL PRESENTATION: 1 day old M (34 wk gestation) had mom undergo induction for preeclampsia and complicated by placental abruption and had to get forceps-assisted vaginal delivery. Abnormal fetal heart tracing. PE: firm well-demarcated swelling on the RT parietal scalp with not discoloration or apparent tenderness. 1. What is the diagnosis? 2. What is risk factor? 3. How do you manage? 4. DDx?

CEPHALOHEMATOMA: subperiosteal hemorrhage due to rupture of subperiosteal blood vessels in delivery --> blood b/w skull and periosteum --> well demarcated scalp swelling that does not cross suture lines + normal skin 2. Risk factor: forceps or vacuum-assisted delivery 3. Management: Resorb spontaneously in 1 month but can cause hyperbilirubinemia or infection. If large cephalohematoma --> calcification + ossification --> skull deformity 4. DDx: a. Caput succedaneum: benign scalp swelling over periosteum with boggy, poorly demarcated edema that crosses suture lines b. Subgaleal hemorrhage: life threatening injury caused by massive blood collection b/w periosteum and galea aponeurotic due to shearing emissary veins in delivery --> fluctuant scalp swelling that expands over time + crosses suture lines c. Positional plagiocephaly (abnormal skull flattening) caused by supine positioning of babies d. Congenital plagiocephaly: abnormal closure of sutures (craniosynostosis)

CLINICAL PRESENTATION: New born with respiratory distress. Face turned blur, which improved with crying. 5 French catheter can't pass through either nares. Ear is short and wide with no earlobes. Look at RT eye 1. What is the dx and what is it a part of? 2. How to diagnose?

CHARGE SYNDROME: Coloboma (eye) Heart defects (VSD, TOF) Atresia choanae Retardation of growth/development GU abnormal Ear abnormal (hearing loss) -Also: Anosmia Cleft lip Hypotonia 2. To diagnose: CHD7 mutation

CLINICAL PRESENTATION: 8 y/o F c/o with LT sided ear discharge and hearing loss. Had recurrent ear infections and had 2 courses of antibiotics. Has tympanostomy tube placement at 2 y/o. OTOSCOPY: scarring on the LT TM with peripheral granulation and some skin debris. 1. What is the diagnosis? 2. Presentation? 3. Complications? 4. Management? 5. DDx?

CHOLESTEATOMA: benign growth of the squamous epithelium with accumulation of keratin debris in middle ear. -can be congenital or acquired from chronic middle ear disease. --> form retraction pocket in TM --> filled with granulation tissue 2. Presentation: continued ear drainage despite antibiotics. 3. Complications: hearing loss, CN palsies, vertigo, brain abscess, meningitis. 4. Management: ENT for ENT exam, CT or surgical visualization 5. DDx: a. Malignant otitis externa: osteomyelitis of external auditory canal and skull base in old pts with DM. Has discharge, hearing loss, severe ear pain, external auditory canal erythema b. Meniere disease: accumulation of fluid in inner ear that leads to hearing loss, vertigo, tinnitus in adults. c. Osteoma: benign solitary area of bony overgrowth in outer ear in adults --> hearing loss d. Otosclerosis: bony overgrowth of stapes footplate that results in conductive hearing loss but NO DRAINAGE.

CLINICAL PRESENTATION: 2 y/o M c/o with painful swelling on RT arm. PMH of skin infection, perianal abscess that didnt improve with antibiotics and grew Staph, Lt inguinal lymphadenitis. PE: indurated, fluctuant mass on lateral aspect of pt's RT arm. Mass is drained and grew Serratia marcescens. Normal WBC, platelet, B- and T- cell. Abnormal dihydrorhodamine flow cytometry. Give Trimethoprim-sulfamethoxazole. 1. What is the diagnosis? 2. Explain pathophys. 3. Presentation? 4. How to diagnose? 5. What antibiotic prophylaxis do you give?

CHRONIC GRANULOMATOUS DISEASE: X linked recessive mutation of NADPH oxidase --> can't form superoxide radicals --> can't kill with phagocytes 3. Presentation: cutaneous + pulmonary infections with catalase + bacteria/fungi (Staph aureus, Psuedomonas, B cepacia, Nocardia, Aspergillus and serratia = SNAPS)Can also get suppurtive adenitis, osteomyelitis, involve lymph nodes 4. Diagnose: normal platelet B- and T-cell, Negative Dihydrorhodamine flow cytometry (taken up by phagocytes and turns green when oxidized with NADPH oxidase to rhodamine) OR Nitroblue tetrazolium test 5. Antibiotic prophylaxis: a. TMP-SMX b. itraconazole c. Interferon gamma -Trick: Patient with SKIN infection AND LUNG infection (perirectal infection)

CLINICAL PRESENTATION: 5 y/o M c/o with bed-wetting. Difficulty toilet training for urination as a toddler and never got consistent dryness in day/night. BP: 130/80. Soft stool every day. Tires easily. Adopted from overseas. Frequent UTIs. Labs: high specific gravity, WBC 1-2 1. What is the dx? 2. Presentation? 3. Next step?

CHRONIC KIDNEY DISEASE in kids: from posterior urethral valves --> urinary incontinence during day/night, weak stream + kidney damage --> recurrent UTI. 2. Presentation of CKD in kids: HTN, fatigue, poor growth, urinary symptoms, proteinuria 3. Next step: check creatinine

CLINICAL PRESENTATION: 5 y/o M c/o with persistent ear drainage. When it did not improve with antibiotics, dx cholesteatoma, which was removed. Had another episode of acute otitis media. P: copious foul smelling purulent drainage from RT ear canal. TM is heavily scarred with large feroation. 1. What is the dx? 2 What are the pathogens? 3. Treatment?

CHRONIC SUPPURATIVE OTITIS MEDIA: in kids with increased incidence of acute otitis media OR conditions that lead to negative middle ear pressure (eustachian tube dysfunction, cholesteatoma--> weakened TM --> increased risk of perforation --> bacteria from external auditory canal introduced into middle ear --> chronic inflammation + scarring) 2. Pathogens: a. Polymicrobial (Staph aureus, Pseudomonas aeruginosa, aspergillus) 3. Treatment: Ototopical fluoroquinolone drops (ofloxacin)

CLINICAL PRESENTATION: 3 hr newborn. PE: underdeveloped phallus with urethral meatus at the ase. Labioscrotal folds are fuse. Labs: elevated 17-hydroxyprogesterone. 1. What is the diagnosis? 2. Labs? 3. Presentation 4. Treatment?

CLASSIC CONGENITAL ADRENAL HYPERPLASIA: autosomal recessive cause by deficiency of 21-hydroxylase --> decreased cortisol + increased 17-OHP + increased androgen + salt-wasting syndrome (hypotension, dehydration, vomiting = decreased Na, glucose, increase K 3. -virilization of female 46, XX (clitoral enlargement that looks like underdeveloped phallus with hypospadia, fused labioscrotal folds, no gonad (CAH females have internal female organs and no testis) and -normal or hypervirilized male 46, XY = enlarged phallus 4. Treatment: glucocorticoids, mineralocorticoids, high salt diet, psychosocial support

CLINICAL PRESENTATION: 7 y/o M c/o with urinary dribbling overnight and in day, has chronic constipation. PE: tuft of hair above the gluteal cleft. 1. What is the diagnosis? 2. How does it present? 3. How do you diagnose? 4. How do you treat?

CLOSED SPINAL DYSRAPHISM (SPINA BIFIDA OCCULTA): neural tube defect 2. Presentation: a. Lumbosacral derm findings (dimple, hair tuft, hemangioma, lipoma) b. Lower motor neuron signs (weakness, hyporeflexia, sensory loss) c. Neurogenic bladder + chronic constipation 3. Diagnosis: MRI of spine = spinal cord tethering 4. Treatment: Surgical detethering

CLINICAL PRESENTATION: 5 day old F c/o with poor feeding, sweating, pallor and respiratory distress exacerbated by feeding. Pulse ox on RT hand = 97% and Pulse ox on LT foot = 95% PE: nasal flaring and retractions. B/L fine crackles. Gallop over precordium. Hepatomegaly. Cold and pale extremities. Strong brachial pulses and weak femoral pulses. 1. What is the dx? 2. What is this associated with? 3. Presentation? 4. What does this do to the Left ventricle?

COARCTATION OF THEE AORTA: thickening of tunica media of aortic arch 2. Associated with: a. Turner syndrome b. Bicuspid aortic valve 3. Presentation: a. strong pulse + high BP in upper extremity b. weak pulse + low BP in lower extremity c. In neonates: severe narrowing --> heart failure (poor feeding, diaphoresis), cardiogenic shock d. kids/adults: mild narrowing --> lower extremity claudication, palpable pulsations of intercostal vessels (collaterals), secondary HTN in upper arm 4. Aortic obstruction increases LT Ventricular afterload --> pressure overload on LV --> heart failure + cardiogenic shock

CLINICAL PRESENTATION: 17 y/o F c/o with weight loss (10 lbs), mood changes, picky eater, refuses to eat, not sleeping enough, increased energy. PE: thin body habitus, erythema of nasal mucosa and facial acne 1. Why did she lose weight?

COCAINE USE DISORDER: key = erythema of nasal mucosa = snort cocaine, increased energy, decreased appetite --> weight loss, reduced need for sleep, -If severe --> perforation of nasal septum -may also have anxiety, panic attack, grandiosity and psychosis -This is NOT Cyclothymic disorder: >2 yrs of subclinical hypomanic and depressive symptoms

CLINICAL PRESENTATION: 14 y/o M c/o with recurrent otitis media, sinusitis. Last week pneumonia. Ig: low IgM, IgG, IgA. Vaccines UTD but low tetanus, diphtheria and pneumococcus low. 1. What is the defect? 2. Epidemiology? 3. DDx?

COMMON VARRIABLE IMMUNODEFICIENCY: impaired differentiation of B cells into plasma cells --> decreased various Ig + low Ab response to vaccines 2. Epidemiology: early adulthood or teens with recurrent sinopulmonary infections caused by encapsulated bacteria + GI infections (Salmonella, Campylobacter, Giardia from low IgA levels), atopic asthma, eczema or autoimmune conditions 3. DDx: X-linked agammaglobulinemia (XLA): defect in pre-B cell maturation in bone marrow --> low Ig and vaccine titers BUT in infant boys after mom's IgG wanes (6 months) and family hx of recurrent hospitalizations = BABIES

CLINICAL PRESENTATION: 18 y/o F c/o with vomiting + uterine cramping. LMP was 7 weeks ago. B-hCG = 170,000. U/S: complex intrauterine mass with numerous anechoic spaces + multiple ovarian cysts. Dilation & curettage: hydropic villi with diffuse circumferential trophoblastic proliferation. 1. What is the dx? 2. What are risk factors? 3. Presentation? 4. Pathology? 5. Imaging?

COMPLETE MOLE: from fertilization of empty oocyte by sperm --> 46 XX, 46 XY. 2. Risk factors: previous molar pregnancy, miscarriage, very young or very old age. 3. Presentation: vaginal bleed, vomiting, uterine cramping, hCG >100,000. 4. Path: hydropic villi + diffuse trophoblastic hyperplasia 5. Imaging: U/S = snowstorm = complex intrauterine mass with many anechoic spaces + many ovarian cysts

CLINICAL PRESENTATION: 2 months old F c/o with jaundice, mild hepatosplenomegaly, systolic ejection murmur. Pt hasnt seen provider since discharge. U/S: punctate calcifications around ventricular margin. 1. What is the dx? 2. Features? 3. Treatment?

CONGENITAL CMV: most common congenital infection 2. Presentation: -hepatosplenomegaly -Jaundice -periVentricular calcification -sensorineural hearing loss -microcephaly -thrombocytopenia 3. Treatment: valganciclovir, ganciclovir -This is a physiologic murmur unlike Rubella which has PDA

CLINICAL PRESENTATION: 1 day old M c/o with microcephaly and ventriculomegaly. Csection done at 35 weeks because of fetal growth restrcition. PE: low birth weight, jaundice, hepatomegaly. Labs: Low platelets. Look at head CT. 1. What is the dx? 2. Cause? 3. Presentation? 4. Treatment?

CONGENITAL CMV: most common congenital infection 2. Transmission: bodily fluids (urine, saliva) 3. Features: Periventricular calcifications, hepatosplenomegaly, thrombocytopenia, microcephaly, jaundice, sensorineural hearing loss 4. Treatment: Valganciclovir

CLINICAL PRESENTATION: 2 wk M c/o with eye tearing and discharge. LT eyelid crusted over and matted shut during sleep. Mo has to clean eye every 2 hours. Baby has nasal congestion. PE: few shallow linear abrasions across LT cheek and lower eyelid. Increased tears on LT side. Fluorescein test shows LT eye has equal distribution on cornea and conjunctiva. After 5 min, dye persists and drains over lower eyelids and down the cheek. 1. What is the diagnosis? 2. Explain the dye 3. How do you manage? 4. What are 2 complications?

CONGENITAL DACRYOSTENOSIS (NASOLACRIMAL DUCT OBSTRUCTION): most common cause of eye discharge in babies where distal duct doesn't canalize completely --> blocks tear flow from NLD to nose --> increased tearing + matting + crusting of eyelashes 2. Fluorescein dye test: dye persists and flows down the cheek instead of draining through NLD 3. Management: Lacrimal sac massage = down pressure to open duct. If persists after 6 months --> NLD probing surgery 3. Complications: a. Dacryocystocele b. Dacryocystitis -NOT Dacryocystitis: NLD obstruction complication with purulent eye drainage + red + warm + tender + swelling -NOT Gonococcal eye infection on day 2-5 w/ profuse purulent eye drainage, conjunctival injection and eyelid swelling

CLINICAL PRESENTATION: 12 week F c/o with weakness, poor appetite, choking spells in feeding, excessive sleeping, constipation, apathy, large tongue, hypotonia, abdominal bloating, umbilical hernia. Born outside US. 1. What is the dx? 2. Presentation? 3. Dx? 4. Treatment?

CONGENITAL HYPOTHYROIDISM: from thyroid dysgenesis (aplasia), inborn error of thyroxin synthesis, transplacental maternal thyrotropin receptor blocking Ab. 2. Presentation: -apathy, weakness -hypotonia + sluggish movement -Umblical hernia -Abdominal bloating -Large tongue 3. Newborn screening of T4 and TSH levels. 4. Treatment: Levothyroxine -Thi is NOT Werdnig-Hoffman Syndrome: autosomal recessive disorder that involved degeneration of anterior horn cells + cranial nerve motor nuclei = Floppy baby syndrome (also infant botulism) -This is NOT Myotonic Congenital Myopathy: autosomal dominant disorder with muscle weakness and atrophy, myotonia, ventricular atrophy, baldness -This is NOT Myasthenia Gravis in late kids/teens: easy fatigability, weakness that improves with rest

CLINICAL PRESENTATION: 1 day old F c/o with swollen hands/feet. Mom had emergency c section for preeclampsia with pulmonary edema. PE: short, webbed neck, dysplastic nails, b/l nonpitting carpal and pedal edema. U/S: horseshoe kidney. 1. What is the diagnosis? 2. Explain pathophys 3. What is the severe presentation of this?

CONGENITAL LYMPHEDEMA secondary to TURNER SYNDROME: lymphatic network dysgenesis --> accumulation of protein-rich interstitial fluid in hands/feet/neck 3. Severe: severe obstruction of lymphatic vessels --> cystic hygroma of neck + fetal hydrops (fluid accumulation in baby: ascites, pleural/pericardial effusion and can be associated with polyhydramnios)

CLINICAL PRESENTATION: 4 week old M c/o with 5 cm skin lesion with overlying hair on upper back. 1. What is the dx? 2. Treatment?

CONGENITAL MELANOCYTIC NEVUS: solitary hyperpigmented lesion with dark coarse hair 2. Treatment: increased size --> increased risk of melanoma so if large remove surgically

CLINICAL PRESENTATION: 1 day F born 30 weeks has low birth weight, length and head circumference <3th percentile. PE: no red reflex b/l both cloudy pupils are cloudy. A continuous harsh murmur over LUSB. Hepatosplenomegaly. 1. What is the diagnosis? 2. Presentation?

CONGENITAL RUBELLA SYNDROME: transmitted transplacentally and risks for fetal defects in 1st trimester. In unvaccinated mom 2. Presentation: low birth weight, PDA, cataracts, sensorineural hearing loss -This is NOT due to pregestational DM --> transposition of great vessels -This is NOT due to unpasteurized products 00> Listeria monocytogenes infection -> neonatal sepsis or meningoencephalitis -This is NOT due to Toxoplasmosis gondii from cat poop --> growth restriction, hepatosplenomegaly, chorioretinitis, jaundice -This is NOT due to neonatal herpes simplex --> vesicular skin lesions -This is NOT due to congenital syphilis -> hepatomegaly and jaundice -This is NOT due to fetal alcohol syndrome = growth restriction, CNS abnormalities, microcephaly, face differences

CLINICAL PRESENTATION: 1 day old M c/o with macriceohaly and jaundice. Mom traveled to central Africa in 1st trimester. When she was there, had fever, swollen lymph nodes and muscle aches. PE: jaundice, hepatomegaly. CT: hydrocephalus and intracranial calcification. Labs: high total and direct bilirubin. 1. What is the diagnosis? 2. How do you get it? 3. What is mom's PE? 4. What is baby's PE? 5. Dx? 6. Treatment? 4. DDx?

CONGENITAL TOXOPLASMOSIS: from Toxoplasma gondii 2. Pregnant women get it from cat feces or raw/undercooked meat. It grows in warm, humid environments (central Africa). 3. Mom's PE: fever, myalgia, lymphadenopathy, rash. 4. Baby's PE: macrocephaly (hyrdocephalus) or microcephaly, DIFFUSE intracranial calcifications, seizures, chorioretinitis 5. Dx: Toxoplasma seology or PCR 6. Treatment: pyrimethamine, sulfadiazine, folinic acid 7. DDx: CMV -from infected bodily fluids (saliva) 0microcephaly, PERIVENTRICULAR intracranial calcifications, sensorineural hearing loss, chorioretinitis -Dx: urine/saliva CMV PCR -Treatment: Ganciclovir or valganciclovir *congenital malaria: fever, anemia, splenomegaly *zika: microcephaly *Parvovirus: anemia, hydrops fetalis *rubella: hepatomegaly, jaundice, cataracts, sensorineural hearing loss, congenital heart defect

CLINICAL PRESENTATION: 4 hr old M c/o with mom who didnt get prenatal care or take prenatal vitamins. PE: molding of occiput, soft mass inferior to umbilical stump which increased in size when pt cries and reduces into abdominal cavity with gentle pressure). 1. What is the dx? 2. Association? 3. Management?

CONGENITAL UMBILICAL HERNIA: due to incomplete closure of abdominal muscles --> soft nontender bulge to umbilicus + protrudes with increased abdominal pressure + usually reducible. 2. Association: Down syndrome, Ehlers Danlos, Beckwith-Wiedemann, HYPOTHYROIDISM 3. Management: usually close (unless large >1.5 cm diameter). Only do surgery if age 5 or complication.

CLINICAL PRESENTATION: 18 month old F c/o with difficulty breathing, runny nose, congestion, cough. At 4 months had bronchiolitis and had recent urgent care visit after putting bead in nose. PE: tachypnea, harsh cough, inspiratory stridor when crying but resolves at rest. 1. What is the Dx? 2. What is the cause? 3. Epidemiology? 4. Presentation? 5. Diagnosis? 6. Treatment?

CROUP (LARYNGOTRACHEITIS): 2. Cause: Parainfluenza viral infection in larynx and trachea 3. Epidemiology: 6 months - 3 yrs in fall/early winter 4. Presentation: a. Inspiratory stridor b. Barking cough c. Hoarseness 5. Diagnose: clinical --> xray = steeple sign (subglottic narrowing) 6. Treatment: -mild (no stridor at rest): humidified air + corticosteroids -moderate (stridor at rest): corticosteroids + nebulized epinephrine

CLINICAL PRESENTATION: 1 y/o M c/o with poor weight gain. After solid food introduction, increase in bulky bowel movements 5x a day, coughing. Lives in rural area. PE: thin but active kid. Wet cough with b/l rhonchi. Look at birth chart 1. What is the diagnosis? 2. Pathophys? 3. Clinical presentation? 4. Explain growth chart 5. How do you diagnose? 6. How do you manage? 7. DDx?

CYSTIC FRIBOSIS: autosomal recessive mutation F508 of CFTR gene --> impaired Cl- transport--> viscous secretions in lungs, sinuses, pancreas 3. Clinical presentation: recurrent wet coughs w/ b/l rhonchi, intestinal obstruction (meconium ileus), pancreatic insufficiency (duct obstruction from mucus prevents digestive enzymes from reaching intestines --> pancreatic inflammation + fibrosis), fat/protein malabsorption --> steatorrhea, fat soluble vitamin deficiencies (A,D,E,K --> increased risk of bleeding), male infertility 4. Growth chart: weight deceleration crossing >2 percentile --> failure to thrive 5. Diagnose: Sweat Cl- test, genetic testing, abnormal nasal potential difference 6. Management: nutritional support, airway clearance, Antibiotic coverage (Staph, pseudomonas) 7. DDx: a. Celiac Disease: autoimmunity to gluten _--> chronic diarrhea, failure to thrive, abdominal pain/distension, increase IgA deficiency

CLINICAL PRESENTATION: 17 y/o M c/o with LT flank pain radiating to groin with symptom as "stone passage" since childhood. UA: hexagonal crystals. Positive cyanide nitroprusside test. 1. What is the diagnosis? 2. What is the diagnostic test?

CYSTINURIA: impaired transport of cystine and dibasic amino acids (ornithine, lysine and arginine) by brush borders of renal tubule and intestinal epithelial cells --> decreased absorption of cystine (no soluble in water) --> cystine stones 2. Diagnostic test: urinary cyanide nitroprusside test

CLINICAL PRESENTATION: 3 hr F c/o with cyanosis. Pulse ox: 72%. Pt remains hypoxic after 10 min. PE: cyanotic, tremulous. Has low set ears, micrognathia and cleft palate. CXR: absent thymus. Echo: truncus arteriosus. 1. What is the diagnosis? 2. What is the presentation? 3. What are the next steps? 4. What are they at risk for?

DIGEORGE SYNDROME/VELOCARDIFACIAL SYNDROME: 22q11.2 microdeletion --> abnormalities + defective development of pharyngeal pouches 2. Presentation: CATCH Conotruncal cardiac defects = tetralogy of Fallot -Truncus arteriosus (connection b/w aorta and pulm artery) -interrupted aortic arch Abnormal Facies (low set ears) Thymic hypoplasia (T cell deficiency) Craniofacial deformities (cleft palate) Hypocalcemia/Hypoparathyroidism (risk for hypocalcemic tetany, seizure, arrhythmia) 3. Next steps: Get echo + Ca levels 4. At risk for: T cell lymphopenia + risk of viral/fungal infection --> sinopulmonary infections

CLINICAL PRESENTATION: 5 y/o had fever and cough, increased respiratory effort + RT sided crackles and given ceftriaxone and azithromycin. Hour later, had upper abdominal discomfort, dark urine, listless, tachycardia, tachypnea, mild upper abdominal tenderness. Labs: anemia, high WBC, high total bilirubin, mild high AST 1. What is the diagnosis? 2. What triggers? 3. Presentation? 4. Labs? 5. Treatment?

DRUG INDUCED IMMUNE-MEDIATED HEMOLYTIC ANEMIA: drugs bind to RBC acting as a hapten that facilitates IgG attachment --> destroyed by splenic macrophages --> extravascular hemolysis 2. Drugs: a. NSAIDs b. Penicillin c. Cephalosporin 3. Presentation: a. anemia + sudden b. jaundice, dark urine, abdominal/back pain 4. Labs: high reticulocytes,low haptoglobin, high bilirubin + Direct coombs test (anti-IgG, anti-C3) 5. Treatment: withdraw drug but if severe give blood transfusion r corticosteroids

CLINICAL PRESENTATION: 18 month old M c/o with fever and facial rash with flare-up of dry thickened itchy skin on cheeks. PMH of atopic dermatitis. PE: Painful clear vesicles over erythematous skin on both cheek with overlying dark red crusting. Submandibular lymphadenopathy. 1. What is the dx? 2. Treatment? 3. Other DDx?

ECZEMA HERPTETICUM caused by HSV: associated with atopic dermatitis and presents as painful vesicles on erythematous bases on face, neck and trunk and can evolve into punched out erosions covered by hemorrhagic crusts -also presents with fever and lymphadenopathy 2. Treatment: Acyclovir 3. DDx: a. Molluscum contagious: caused by poxvirus and have umbilicated skin-colored papules b. Impetigo: from staph or strep pyogenes = erythematous papules, pustules or vesicles caused by honey colored crusts. c. Tinea corporis (ringworm): caused by trichophyton rubrum that cause pruritic scaly annular patches d. Varicella zoster (chickenpox): fever, sore throat, fatigue followed by diffuse pruritic rash in various stages of healing.

CLINICAL PRESENTATION: 1 day old M c/o with congenital abnormalities after mom declined prenatal testing anf reported decreased fetal movement 1 week ago. Baby not latching well. PE: small face, jaw with prominence on back of head. Overlapping of fingers b/l + convex b/l soles + limited hip abduction. Murmur on LLSB. 1. What is the dx? 2. Presentation? 3. Prognosis?

EDWARDS SYNDROME (TRISOMY 18): 2. Presentation: a. Microcephaly b. Micrognathia c. Overlapping fingers d. Rocker-bottom feet e. VSD f. Limited hip abduction g. Renal defects h. Low set ears 3. Prognosis: die in 1st month of life

CLINICAL PRESENTATION: 7 y/o M c/o with anal pruritis worse at night. Went to camping trip and swam in lake. PE: anus with mild perianal erythema + multiple excoriations 1. What is the dx? 2. How do you diagnose? 3. Treatment?

ENTEROBIUS VERMICULARIS (PINWORM): helminth infection in school age via ingestion of eggs (larvae develop worms in small intestine) --> night: female worms migrate through rectum and deposit eggs in perianal region --> nocturnal perianal pruritus 2. Diagnose: scotch tape test or pinworm paddle test: eggs stick to tape and see under microscope. 3. Treatment: Pyrantel pamoate OR albendazole for ALL household contacts (infectious)

CLINICAL PRESENTATION: 21 month old F c/o with difficulty swallowing, runny nose, fever, fussy at home, refuses to eat. PE: agitated, drooling, suprasternal and intercostal retractions, strior, diminished lung sounds. Undergoes endotracheal intubation, which shows that epiglottis is erythematous and edematous. 1. What is the diagnosis and cause? 2. What is the presentation? 3. What does imaging show? 4. Management?

EPIGLOTTITIS: cause by H. flu type B 2. Presentation: tripod position, sniffing position, stridor, dysphagia, dysphonia, drooling, fever 3. Imaging: Thumb sign = enlarged epiglottis 4. Management: endotracheal intubation + ceftriaxone (H flu and strep) + vancomycin

CLINICAL PRESENTATION: 2 day old M c/o with diffuse rash on torso and extremities. PE: pustules overlying erythematous skin and extremities. Scattered papules. Look at picture 1. Dx? 2. Management?

ERYTHEMA TOXICUM NEONATORUM: from birth - 3 days 2. Management: observe + resolves within a week

CLINICAL PRESENTATION: 10 y.o M c/o with LT knee pain and difficulty walking. Prevents him from playing soccer or bball. Worse at night. Occasional fever. Antalgic gait. LT knee is swollen and erythematous, Tender, immobile mass over LT knee. Labs: high WBC, high ESR. XRAY: central lytic lesion in distal femur with cortical layering a moth eaten appearance and extension into soft tissue. 1. What is the dx? 2. Presentation? 3. Imaging? 4. Treatment? 5, DDx?

EWING SARCOMA: 2nd pediatric bony malignany (after osteosarcoma) = in pelvis or diaphysis of long bones --> can have mets in lung, bone, bone marrow. 2. Presentation> localized pain, swelling, B symptoms 3. Imaging: Lamellated periosteal reaction with central, lesion surrounded by concentric layers over new bone (ONION SKINING) + Mottled appearance (MOTH EATEN) + CODMAN TRIANGLE 4. Treatment: Surgery + radiation 5. DDx: a. GIANT CELL TUMOR OF BONE: soap bubble in epiphyses of long bone in young adults b. OSTEOID OSTEOMA: in young boys tumor in proximal femur and pain that gets better with NSAID. XRAY: small round lucency with sclerotic margins

CLINICAL PRESENTATION: 1 day old F c/o with b/l enlarged mammary glands, labia swollen and blood-tinged vaginal discharge. 1. What is the cause? 2. Findings? 3. Treatment?

EXPOSED TO TRANSCPLACENTAL MATERNAL ESTROGEN EXPOSURE: normal physiological response 2. Findings: a. Breast hypertrophy b. Swollen labia c. White vaginal discharge d. Uterine withdrawal bleeding 3. Treatment: Reassurance

CLINICAL PRESENTATION: 6 month old kid has poor feeding, fussy. PE: bulging anterior fontanelle + widely spaced sutures. Scalp veins prominents. Head circumference rapidly growing. 1. What is the diagnosis? 2. What is the presentation? 3. What is the next step? 4. How do you treat?

HYDROCEPHALUS: ventricular dilation 2. Presentation: poor feeding, irritability, decreased activity, vomiting, bulging fontanelle, prominent scalp veins, widely spaced cranial sutures, rapidly increasing head circumference 3. Next step: CT or MRI 4. Treatment: shunt from ventricle to peritoneum, pleura or RT atrium --> allow excess CSF to drain

CLINICAL PRESENTATION: 11 y/o F c/o with unsteady gait (clumsy --> difficulty standing/walking). Has scoliosis. Family Hx of sudden cardiac death. PE: wide-based gait and constantly shifts position to maintain balance. Lower extremities have decreased vibratory and position sense and absent ankle jerks b/l. 1. What is the dx? 2. How does it present? 3. Dx? 4. Prognosis? 5. Management?

FRIEDRICH ATAXIS: autosomal recessive with excessive # of trinucleotide repeat sequence (GAA) --> abnormal frataxin protein in brain, heart, pancreas 2. 3 presentations: a. Cardimyopathy (HCM)--> family Hx of sudden cardiac death b. Diabetes c. Neuro problems: dysarthria, loss of deep tendon reflexes, gait/limb ataxia in teens, deterioation of dorsal spinal column -- loss of position/vibratory senses d. Skeletal problems: kyphoscoliosis and pes cavus (high arched feet) 3. Diagnosis: genetic testing 4. Prognosis: age 30-40 from cardiomyopathy 5. Management: multidisciplinary -NOT Acute cerebellar ataxia after infection (varicella) --> ataxia, nystagmus, dysarthria. Resolve after 2 weeks -This is NOT due to benzodiazepines, which can cause ataxia, dysarthria, depressed mental state -This is NOT lead toxicity: peripheral neuropathy, irritability, hyperactivity, fatigue, abdominal pain

CLINICAL PRESENTATION: 15 y/o F c/o with amenorrhea. She is shorter. No breast development, normal external genitalia, Tanner stage 1 pubic hair. 1. What is the next step? 2. What is the algorithm in people with primary amenorrhea? 3. What happens if pt has a prepubertal uterus with small ovaries and high FSH and LH? 4. What is the DDx?

For primary amenorrhea in girls >13 with no secondary sexual characteristics, do pelvic ultrasound to see if any abnormalities in ovaries, uterus or vagina. 3. Patient has Turner Syndrome (45X,O) --> gonald dysgenesis, streak ovaries (small ovaries with no follicles), low estrogen (primary amenorrhea),--> negative feedback leading to high FSH and LH, coarctation of aorta, bicuspid aortic valve, horseshoe kidney, broad chest, webbed neck. -This is NOT Kallman Syndrome (Congenital GnRH deficiency): decreased FSH and LH --> amenorrhea -This does NOT effect Mullerian duct: uterus, fallopian tubes, upper 2/3 vagina. Would have seen uterus abnormalities -This is NOT Androgen Insensitivity Syndrome (Complete Androgen Receptor Insensitivity): high Androgen --> convert to estrogen --> tall + breast development

CLINICAL PRESENTATION: 7 day old African American M had sepsis yesterday, got antibiotics and Blood cx showed E. coli.. Now has fever, jaundice, hepatomegaly. Labs: anemia, high WBC. high total bilirubin, high AST/ALT. 1.What is the diagnosis? 2. What is the presentation? 3. What are labs? 4. Diagnosis? 5. Treatment?

GALACTOSEMIA: autosomal recessive disease caused by GALT (galactose-1-phosphate uridylyltransferase) deficiency --> cant convert galactose to glucose --> accumulation of galactose 2. Presentation: poor feeding, vomiting after breastfeeding, jaundice, hepatomegaly, cataract. Excess galactose impairs WBC function and superoxide release -> increased risk of E.coli sepsis = initial presentation neonates. 3. Labs: high LFTs, high conjugated/unconjugated bilirubin, hypoglycemia, metabolic acidosis (renal tubular damage from galactose accumulation), hemolytic anemia (buildup in RBC --> RBC death) 4. Diagnosis: Newborn screen --> no RBC GALT activity 5. Treatment: Galactose free diet (soy based formula)

CLINICAL PRESENTATION: 9 month old F c/o with LT eye redness and tearing. PE: LT eye with clear tearing on eyelashes with conjunctival erythema. LT cornea and globe larger than RT. Blinks frequently and turns away when light shined. Port wine stain over LT forehead, eyelids and cheek, which is red more than normal. 1. What is the dx? 2. Presentation in baby? 3. Causes? 4. Diagnosis? 5. Treatment?

GLAUCOMA: optic neuropathy from increased intraocular pressure from impaired drainage of intraocular fluid 2. Presentation: -corneal edema -tearing -photphobia -blepharospasm -conjunctival erythema -optic nerve cupping 3. Causes: a. Primary anatomic abnormality (angle dysgenesis) b. Tumor/trauma, infection c. Corticosteroid induced d. Sturge Weber: congenital anterior chamber angle anomaly + increased episcleral venous pressure (episcleral hemangioma) 4. Diagnosis: Tonometry 5. Treatment: Surgery

CLINICAL PRESENTATION: 16 y/o F co with dark brown urine and fatigue. Elevated BP. Labs: high BUN, creatinine. U/A: high specific gravity, protein, blood, 1-2 WBC, 20-30 RBC. 1. What do you suspect? 2. What is the next step?

GLOMERULAR DISEASE: suspect if -RBC cast -Proteinuria -HTN -Brown, cola colored urine -edema 2. Next step: serum complement (C3,C4) levels -If low C3 --> poststrep glomerulonephritis or lupus nephritis --> uses ANA and ASO to differentiate

CLINICAL PRESENTATION: 12 y/o African American M c/o with back pain, abdominal pain and dark urine. 2 days ago he had fever, runny nose and cough. PE: tired, scleral icterus, clear rhinorrhea. Mild diffuse tenderness abdomen. Peripheral blood smear: bite cells and RBC inclusions on crystal violet staining 1. Dx? 2. Pathophys 3. Explain peripheral blood smear 4. Presentation? 5. Epidemiology?

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY: X linked disease no enzyme G6PD that generates NADPH, which is a cofactor to make glutathione --> no glutathione --> oxidative metabolites accumulate in RBC and denature into Heinz bodies (dark RBC inclusion) which reduced RBC blexibility and lead to RBC damage (Bite cells) 5. Epidemiology: Black males, Mediterranean, Middle East, Asian

CLINICAL PRESENTATION: 5 wk old F c/o with increased fussiness, decreased appetite, crying, fever. PE: 5 x 6 cm redness and induration on LT cheek and submandibular region greatly expanding. Labs: high WBC. Blood cx: gram + cocci in pairs and chains 1. What is the diagnosis? 2. How does this look in 1st week of life vs 5 week of life? 3. Diagnose? 4. Treatment?

GROUP B STREP (Strep Agalactiae) INFECTION: most common cause of early neonatal sepsis in first week AND late onset infection (>7 days). 2a. 1st week = early onset: from vaginal delivery --> sepsis, pneumonia, meningitis b. >7 days = late onset from colonized household members --> bacteremia, meningitis, focal infection (cellulitis, osteomyelitis), cellulitis-adenitis (induration of face/submandibular area) 3. Diagnose: Blood, urine, CSF + empiric bacteria = gram + cocci in pairs and chains 4. Treatment: IV penicillin G

CLINICAL PRESENTATION: 6 y/o M c/o wtih leg pain in b/l legs only at night. Worse in thighs but occasional pain in calves. When in pain, no urge to move legs. No change in activity level. Improves with massage and OTC 1. What is the dx? 2. Presentation? 3. Management?

GROWING PAINS: in kids 2-12 y/o 2. Presentation: -Absence of systemic symptoms + normal exam -Pain at night and resolves by morning -B/l lower extremity (thigh/calves) 3. Management: -Parental education -Massage, stretching heat, pain meds

CLINICAL PRESENTATION: Newborn born at 39 wks to 15 y/o. Complicated by meconium stained amniotic fluid. At 5 min, HR is 120, RR is 50, flexing extremities, moves and cries vigourously in response to stimulation. Has cyanosis of hands, feet and circumoral area and rest is pink. 1. What is the APGAR? 2. What are the 3 preventative things you need to do? 3. What are 5 screening things you need to do? 4. What happens if there is a + screen?

HEALTHY NEWBORN: Apgar score is 9/10. -Has Acrocyanosis (blue extremities + pink body) from initial peripheral vasoconstriction. 2. 3 preventative routine newborn care: a. IM vitamin K b. Hep B vaccine c. Erythromycin eye ointment 3. 5 screening things you need to do: a. Newborn screen b. Hyperbilirubinemia c. Hearing screen d. Pre- (RT arm) & post-ductal (leg) Pulse ox for CHD e. Hypoglycemia 4. If there is a + screen, do Echo (<90% in either extremity, <95% in both upper and lower extremity, >3% difference b/w lower and upper extremity)

CLINICAL PRESENTATION: 13 y/o with cystic fibrosis c/o with ightheadedness, nausea in outdoor soccer game after bumping head with someone. No LOC. Felt like she was going to pass out. Now has fever, abdominal cramps, nausea --> vomiting, tachypnea, tachycardia. 1. What is the diagnosis? 2. Risk factors? 3. Presentation? 4. Management?

HEAT EXHAUSTION: after prolonged exercise in high temps. 2. Risk factors: strenuous activity in hot weather, dehydration, obesity, lack of physical fitness, acute illness, meds: (anticholinergics, antihistamines, phenothiazines, tricyclics, antipsychotics). cystic fibrosis (higher rates of NaCl) lost in sweat) 3. Presentation: hyperthermia with normal mental status, sweating, N/V, headache, dizziness, tachycardiac, hypotension 4. Management: cool pt, and chilled salt-containing fluids loss of NaCl from sweating) 5. DDx: a. Exertional heat stroke = hyperthermia + CNS dysfunction --> can cause sudden death in athletes

CLINICAL PRESENTATION: 4 month old M c/o sleepy, pale, mild scleral icterus. Newborn screen: extra band showing gamma tetramers on Hb electrophoresis. 1. What is the diagnosis? 2. Labs?

HEMOGLOBIN H disease of ALPHA THALASEEMIA: one or more of the alpha genes is deleted --> 3 genes lost (a-/--) so nonalpha chains accumulate into homotetramers made of beta chains in adults/kids OR gamma chains (hemoglobin Barts) in babies --> chronic hemolysis due to short RBC lifespan and increased splenic sequestration 2. Labs: high RBC to try to replenish, microcytic anemia -Peripheral smear shows target cells -Hb electrophoresis: gamma tetramers -This is NOT schistocytes: microangiopathic hemolytic anemia from RBC destruction -This is NOT spherocytes from hereditary spherocytosis -This is NOT polychromasia: from secondary erythrocytosis which causes increase in immature RBC from hypoxia or tumor -This is NOT pencil cells from iron deficiency anemia (microcytic)

CLINICAL PRESENTATION: 12 y/o M c/o with dark urine and exertional fatigue for 2 weeks. Had aortic valve replacement with mechanical valve for bicuspid aortic regurg and takes warfarin. U/A: increased specific gravity, 3 + blood, 1-2 WBC, 1-2 RBC. 1. What is the cause? 2. Explain labs 3. Next step?

HEMOGLOBINURIA FROM INTRAVASCULAR HEMOLYSIS: free Hb in urine from increased turbulence though prosthetic valve causing shearing forces on RBC--> intravascular hemolysis 2. Labs: red urine but with only 0-2 RBCs (not hematuria = >3 RBC) 3. Next step: CBC to confirm anemia --> exertional fatigue and low haptoglobin + increased lactate dehydrogenase + increased reticulocytes + schistocytes on peripheral smear -Nothing to do with warfarin (Vit K antagonist --> increased bleeding) --> but not hematuria

CLINICAL PRESENTATION: 17 y/o M c/o with rash and scrotal swelling. Had ankle pain, rash on legs and top of feet that have coalesced and darkened. PE: mild edema in RT testicle with slight tenderness to palpation. 1. What is the diagnosis? 2. What is the presentation? 3. How to manage? 4. What is the DDx?

HENPCH SCHONLEIN PURPURA (IgA Vasculitis): IgA immune complex deposition with small vessels (also C2, fibrin) 2. Presentation: a. Lower extremity purpura b. Lower extremity arthalgia/arthritis (ankle pain) c. Abdominal pain + GI bleed --> anemia (intussusception) d. Renal diseases e. Scrotal pain/swelling (local vasculitis) 3. Management: supportive care/NSAIDs --> hospitalization & systemic glucocorticoids for severe symptom 4. DDx: -This is NOT secondary syphilis: arthritis and scaly/papular rash on palms, soles, condylomata lata (gray/white lesions) -This is NOT Rocky Mountain spotted fever = tickborne disease that causes myalgia and arthralgia with petechial rash that begins on wrist/ankles --> palm/soles

CLINICAL PRESENTATION: 17 y/o M c/o with facial swelling (lip swelling first). Stressed this week due to exams. Had similar episode when tooth extracted. PE: severe edema of entire face. Can't open eyes. Mild edema of hands. 1. What is the dx? 2. Pathophys? 3. What are triggers? 4. Presentation? 5. How to dx? 6. Management?

HEREDITARY ANGIOEDEMA: autosomal dominant mutation --> dysfunction of C1 inhibitor --> increased bradykinin --> vasodilation + increased vascular permeability 3. In later teens after emotional stress or trauma (dental procedure) 4. Presentation: a. cutaneous swelling (face, extremities, genitals) b. bowel wall edema --> colicky abdominal pain, vomiting, diarrhea c. Laryngeal edema --> laryngospasm, airway obstruction 5. Dx: decrease C4 and decrease C1 inhibitor 6. Management: a. C1 inhibitor concentrate b. Bradykinin antagonist (icatibant) c. Kallikrein inhibitor (ecallantide)

CLINICAL PRESENTATION: 7 y/o M c/o with scleral icterus, tired, pale and uninterested in playing. Father had similar symptoms. PE: jaundice, splenomegaly. Labs: anemia, high reticulocytes, high total bilirubin. Peripheral smear: anisocytosis, spherocytes, polychromatophilia Negative coombs test. 1. What is the diagnosis? 2. Explain pathophys. 3. Explain labs. 4. How do you confirm dx? 5. Presentation?

HEREDITARY SPHEROCYTOSIS: autosomal dominant due to defect in proteins with RBC membrane proteins (ankyrin, band 3, protein 4.2, spectrin). 3. Labs: intrinsic hemolytic anemia, high mean corpuscular Hb conc (MCHC) due to less surface area and no central pallor (spherocytes on peripheral blood smear), high reticulocytes 4. Dx: a. osmotic fragility test with acidified glycerol lysis test = high fragility b. Eosin-5-maleimide (EMA) binding test (binds to band 3): decreased mean fluorescence of RBC 5. Presentation: jaundice, scleral icterus, splenomegaly, anemia -This is NOT Paroxysmal nocturnal hemoglobinuria (PNH): PIGA hematopoietic stem cell mutation (needed for GPI protein synthesis, which anchors glycoproteins on RBC surface protecting it from complement cell lysis -> increased complement mediated intravascular hemolysis at night. This is dx by CD55 and CD59 protein testing. Pts have hemolytic anemia, cytopenia and hypercoagulability.

CLINICAL PRESENTATION: 4 day old baby c/o with bilious vomiting. Appear uncomfortable after feeding, irritable. PE: abdominal distension, anal canal tight. XRAY: dilated loop of bowel + air-fluid levels 1. What is the diagnosis? 2. What is the presentation? 3. What does XRAY show? 4. What is the next step after XRAY? 5. How do you confirm Dx?

HIRSCHSPRUNG DISEASE: rectosigmoid colon has no ganglion cells --> can't relax --> intestinal obstruction 2. Presentation: decreased stooling (fail to pass meconium in first 48 hrs), poor feeding, bilious emesis, abdominal distension, increased rectal tone, squirt sign (expulsion of gas + stool) on DRE 3. XRAY: dilated bowel loops + absent gas in rectum (exclude perforation = free air) 4. Contrast enema to determine obstruction level = transition zone b/w dilated proximal colon (megacolon) and narrow aganglionic sigmoid colon 5. Confirm Dx: suction rectal biopsy = absent ganglia

CLINICAL PRESENTATION: 5 y/o F c/o with sudden weakness on LT side, slurred speech, lost balance and toppled over. Hx of developmental delay and eye problems. Low weight and tall. PE: alert, fair skinned, blue eyes, long thin arms + legs, decreased upper-to-lower segment ration, LT upper and lower DTR brisk, Babinski + on LT side. Joint laxity and skin hype elasticity. 1. What is the dx? 2. Features? 3. Dx? 4. Treatment? 5. DDx?

HOMOCYSTINURIA: autosomal recessive disorder from cystathionine synthase deficiency --> errors in methionine metabolism 2. Features: a. Fair skin + eyes b. Development delay c. cerebrovascular accident (changes in vessel walls + increase platelet adhesiveness) d. Marfanoid body habitus (tall, joint hyperlaxity, ectopia lentis, chest deformities) 3. To diagnose: Elevated homocysteine + methionine levels 4. Treatment: Vitamin B6 + folate + vitamin B12 (lower homocyetine levels) + antiplatelet/anticoag (prevent thrombosis) 5. DDx: a. Marfan: normal intellect + aortic root dilation + upward lens dislocation b. Ehlers-Danlos: collagen disorder with scoliosis, joint laxity, skin hyperelasticity (but no tall, lens dislocation, hypercoag) c. Fabry disease: a-galactosidase deficiency --> angiokeratomas, peripheral neuropathy, corneal dystrophy, renal + heart failure + risk of thrombosis d. Krabbe disease: autosomal recessive lysosomal storage disorder caused by galactocerebrosidase deficiency --> intellectual disability, blindness, deafness, paralysis, neuropathy, seizures e. PKU: inborn error from phenylalanine hydroxylase deficiency --> intellectual disability, fair, eczema, musty body odor

CLINICAL PRESENTATION: 14 month old M c/o for pneumonia. Had 3 episodes of bronchiolitis. pneumococcal pneumonia, reccurent otitis media. Vaccine UTD. Labs: low WBC, low neutrophils, high lymphocytes. Low IgG, low IgA. High IgM. High CD4/CD8 ratio. 1. What is the dx? 2. Presentation? 3. Treatment?

HYPER-IgM SYNDROME: X-linked recessive defect in CD40 ligand (normally on T cells that binds to CD40 on B cells --> Ig Class switching in which immature B cells that normally express only IgM make IgG, IgA, IgE) --> prevents class switching --> high IgM and low IgA, IgG +high lymphocytes (active infection) and neutropenia. 2. Presentation: recurrent sinopulmonary infections caused by encapsulated bacteria + increased risk of opportunistic infection (PCP) (due to impaired T cell interaction with APC) + growth impairment 3. Treatment: antibiotic prophylaxis + IVIg

CLINICAL PRESENTATION: 14 y/o M had dad die from sudden cardiac arrest. PE: carotid pulse dual upstroke. Strong PMI and faint midsystolic murmur hear at apex along left sternal border. 1. What is the diagnosis? 2. Presentation? 3. What maneuver can you do increase intensity of murmur?

HYPERTROPHIC CARDIOMYOPATHY: autosomal dominant --> thick intraventricular septum--> left ventricular outflow tract obstruction 2. Presentation: dyspnea, chest pain, syncope, sudden cardiac arrest from reduced CO or ventricular arrhythmia 3. Maneuver in HCM in crescendo-decrescendo murmur: a. Valsalva, standing, NO --> decrease preload into LA--> obstruction gets louder b. Squats, hand grip, leg raise: increase SVR (harder to eject blood)--> more blood stretching it obstructed wall --> less intense

CLINICAL PRESENTATION: Newborn with systolic murmur at LUSB that radiates to axilla. PE: curvature of underdeveloped penis, urethral meatus is at ventral position at base and flanked by surrounding scrotal sac. Gonads not palpable. Sacral dimple with intact skin. 1. What is the dx? 2. What does it indicate? 3. Next steps?

HYPOSPADIAS: failure of urethral folds to fuse --> ventrally displaced urethral meatus + dorsal hooded foreskin + penile curvature (CHORDEE) 2. Indicated disorder of sex development (ex: Androgen receptor mutation) --> associated with cryptorchidism 3. Next steps: Karyotype analysis or pelvic U/s (is there a uterus)

CLINICAL PRESENTATION: 14 y/o F is picky eater but eats 3 meals a day. Stays up late talking with friends but lately more tired and goes to bed after dinner. Growth chart: drop in height but weight is normal. PE: breast in Tanner 1 and pubic hair in Tanner stage 4, bradycardia Decreased bone age 1. What is the diagnosis? 2. How do you evaluate short stature?

HYPOTHYROIDISM: Thyroid hormones affect thelarche but NOT adrenarche (pubic hair) --> slow breast development but normal pubic hair development, short with fatigue, bradycardia, delayed bone age 2. short --> growth velocity -if normal growth velocity, look at puberty and bone age. -if impaired growth velocity, look at bone age.

CLINICAL PRESENTATION: 17 y/o F c/o with persistent nosebleed after getting hit by ball. Hx of heavy menses. PE: liver 8 cm along midclavicular. Scattered ecchymoses on legs + arms. Labs: low platelets 1. What is the dx? 2. Presentation? 3. Labs? 4. Management?

IMMUNE THROMBOCYTOPENIA: IgG autoantibodies against platelet membrane glycoproteins --> increased platelet destructions + inhibit platelet production 2. Presentation: petechiae, ecchymoses, mucosal bleeding (epistaxis, heavy menses), normal liver span (6-12 cm at midclavicular line), nonpalpable spleen 3. Labs: no anemia, normal PT, PTT, fibrinogen BUT low platelets. 4. Management: -Kids: observe if only cutaneous but if bleeding glucocorticoids, IVIG or anti-D (if Rh +) -Adults: observation if cutaneous and platelets >30K but if bleeding or platelets <30K glucocorticoids, IVIG or anti-D -This is not leukemia = pancytopenia -This is not von Willebrand factor: girl with heavy menses but normal platelet -This is not ADAMTS13: thrombocytopenic purpura, microangiopathic hemolytic anemia

CLINICAL PRESENTATION: 13 /o F c/o with lower abdominal pain + rectal pain with bowel movements. Has not reached menarche. No melena or frank blood. PE: lower abdominal tenderness to deep palpation in midline. External geitalia is Tanner stage 3. Pelvic exam: smooth firm mass protrudinf b/w labia majora. 1. What is the diagnosis? 2. What is the presentation? 3. How do you treat is?

IMPERFORATE HYMEN: common anatomic cause of primary amenorrhea when hymen fails to fenestrate during embryonic development --> mucus collection --> cyclic lower abdominal pain w/o vaginal bleeding 2. -when menstruation occurs --> hematocolpos = blood collects in vagina behind hymenal membrane --> increase pressure on surrounding pelvic organs = lower back pain, pelvic pressure or defecatory rectal pain -physical exam: bulging vaginal mass or membrane that swells with valsalva (increased intraabdominal pressure) *usually hymen covers part of vagina but here it covers the whole opening of the vagina 3. Treatment: incise hymen and drain hematocolpos

CLINICAL PRESENTATION: 6 month old M C/O w/ lethargy and or feeding. Usually eats fruit, cereal, honey and yogurt. Only ate 10 oz formula daily, seems floppy. No stool this week. PE: severe hypotonic and lethargic infant who cries faintly while lying on table. 1. What is the dx? 2. Presentation? 3. Diagnosis? 4. Treatment?

INFANT BOTULISM: in babies <1 after eating honey contaminated with Clostridium botulinum spores (babies volunerale b/c immature digestive system) --> neurtoxin inhibits presynaptic Ach release into neuromuscular junction --> affects somatic nervous system (skeletal muscles) and autonomics (smooth muscles) 2. Presentation: a. constipation (hypoactive) b. poor feeding c. hypotonia d. Oculobulbar palsies (no gag reflex, ptosis) e. Symmetric descending paralysis f. autonomic dysfunction (decreased salivation, fluctuating HR/BP) 3. Dx: stool 4. Treatment: Botulism Ig

CLINICAL PRESENTATION: 7 month old M c/o with bloody streaks in stool. Was breastfed --> cereal + cow milk. Before stool was soft + yellow 1x a day. Now hard + pellet-like stool every 2-3 days. PE: abdomen mildly distended, LLQ firm on palpation and small anal fissure. 1. What is the diagnosis? 2. What are some risk factors? 3. How do you manage? 4. Is this pathologic?

INFANT FUNCTIONAL CONSTIPATION: introduction of solid foods (low fiber, decreased fluid content) --> pellet like stools + abdominal distension + LLQ firmness --> anal fissure + bright red blood 3. Management: add undigestible osmotically active carbs (prune/apple juice) 4. Not pathologic. a. For Hirschsprung --> barium enema. (failure to pass meconium, chronic refractory constipation, XRAY = absent rectal air + dilated proximal bowel loops), abdominal distension b. For cystic fibrosis --> sweat chloride test. c. For spinal dysraphism --> MRI -Use hydrolyzed formulas aka soy milk(preprocessed, less allergenic proteins) for food protein-induced allergic proctocolitis (cow's milk protein allergy) = babys <6 months with loose stools that have mucus + blood mixed in

CLINICAL PRESENTATION: 4 y/o M c/o with painless lesions on face after birth. Look at pic. 1. What is the diagnosis? 2. What is treatment?

INFANTILE HEMANGIOMA (STRAWBERRY HEMANGIOMA): benign vascular tumors on head and neck that show as red papule/plaque. 2. Treatment: a. Usually asymptomatic so will regress b. If around the eye --> propranolol, cryotherapy, laser ablation and surgical resection to prevent vision problems

CLINICAL PRESENTATION: 14 y/o F c/o with rash, fever, sore throat, malaiase. Dad gave her amoxicillin 2 days ago. Now rash all over. PE: enlarged, red tonsils b/l with white exudates and diffuse b/l cervical lymphadenopathy. 1/6 systolic murmur along LT sternal border. Abdomen with mild hepatosplenomegaly. Erythematous, polymorphous maculopapular rash. 1. What is the dx and cause? 2. What is the presentation? 3. Management? 4. DDx?

INFECTIOUS MONONUCLEOSIS: caused by EBV 2. Presentation: fever, tonsillitis/pharyngitis, white exudates, posterior/diffuse cervical lymphadenopathy, fatigue, hepatosplenomegaly, rash after amoxicillin. 3. Management: avoid sport for >3 weeks (or >4 wks of contact sports) because of risk of splenic rupture 4. DDx: Acute rheumatic fever = JONES criteria = Joint (arthritis), O (looks like myocarditis, mitral regurg), N (subcutaneous nodules) Erythema Marginatum, Syndenham chorea -the murmur is a benign flow murmur from fever

CLINICAL PRESENTATION: 15 y/o M c/o with RT elbow pain + swelling. PMH of Factor VIII deficiency and gets recombinant factor VIII infusions. Increased infusions after episode but swelling/pain remain. Labs: increased Activated PTT 1. What is the cause?

INHIBITOR DEVELOPMENT TO SEVERE HEMOPHILIA A TREATMENT: complication of treatment --> immune system recognized factor as foreign --> from Ab *Trick: Hemophilia pt with factor replacement therapy develops increased bleeding frequency/hemorrage refractory to treatment --> Labs: increased PTT but normal PT

CLINICAL PRESENTATION: 2 day old F c/o with seizures + bulging anterior fontanelle and longer cap refill. PE: slow rhythmic contractions of upper extremities, tongue thrust, lip smacking. Look at head u/s. 1. Dx? 2. Biggest risk factor? 3. Presentation? 4. How to diagnose? 5. Management? 6. Complications?

INTRAVENTRICULAR HEMORRHAGE: ruptured germinal matrix vessels (fetal structure that gives rise to neurons and is prone to rupture) in acute changes in cerebral perfusion) 2. Risk factor: Prematurity: germinal matrix begins at 32 weeks 3. Presentation: -Seizure -Apnea -Fill fontanel -Acute anemia 4. To diagnose: Cranial ultrasounds = hemorrhage limited to germinal matrix or enter lateral ventricles 5. Management: supportive (seizure management, O2/Vent, nutrition) 6. Complications: cerebral palsy, intellectual disability -This is NOT AVM: shunting of oxygenated blood to draining veins = ischemic changes to parenchyma (can happen in increasing age, but prematurity is more IVH) (happens in parenchyma before ventricles so takes time)

CLINICAL PRESENTATION: 5 y/o F c/o with behavioral changes. Thought she has special powers with wand. Forgot wand and Dad got into MVA,. Now protective of wand. 1. What is the diagnosis? 2. How do you manage?

In age 2-7, she has magical thinking = fantasy elements from toys + real life. 2. Management: This is age-appropriate development so reassure.

CLINICAL PRESENTATION: 12 hr F c/o with biliary emesis. Mom didnt get prenatal care and used cocaine in preg. Baby didnt have a BM, vomited green fluid, small for gestational age, distended. Look at XRAY. 1. What is the diagnosis? 2. Explain pathophys 3. Presentation? 4. Treatment?

JEJUNAL ATRESIA: poor fetal gut perfusion (vasoconstrictors like cocaine or tobacco) --> necrosis/resorption of fetal intestine --> atresia of jejunum or ileum 3. Presentation: bilious vomiting, abdominal distension XRAY: triple bubble signs + gasless colon 4. Treatment: resuscitation/stabilization of pt --> surgery -This is NOT duodenal atresia = double bubble sign (surgical repair) -This is NOT Hirschsprung disease (rectosigmoid lacks ganglion cells and can't relax) = abdominal distension + bilious emesis + delayed meconium (>48 hrs)--> obstruction at rectosigmoid juction --> dilated loops of bowel -This is NOT Necrotizing Enterocolitis: abdominal distension, bloody stool, instable vitals + pneumatosis intestinalis on XRAY -This is NOT Pyloric Stenosis: 3-6 wks with nonbilious projectile vomiting + olive shaped mass in epigastric area

CLINICAL PRESENTATION: 3 y/o F c/o with RT knee swelling, limping in mornings. PE:b can bear weight but limp, RT knee swollen and slightly warm. 1. What is the dx? 2. What are the different types? 3. What complication should you watch out for? 4. Treatment? 5. DDx?

JUVENILE IDIOPATHIC ARTHRITIS: autoinflammatory condition with limp worsen in morning in toddle (<5 y/o) = oligoarticular (<4 joints) 2. Different JIA types: a. Systemic (<18) = arthritis, quotidian fever, salmon colored rash, hepatosplenomegaly, lymphadenopathy b.Polyarticular (2-5 or 10-14) = arthritis >5 joints, uveitis c. Oligoarticular (2-4) = arthritis <5 joints, uveitis 3. Complication: Uveitis--> untreated = vision loss 4. Treatment: NSAID, intraarticular glucocorticoids 5. DDx: a. Hemophilia = hemarthrosis (acute intramuscular hemorrhage) b. Lyme = monoarthritis in knee --> atrioventricular conduction problem

CLINICAL PRESENTATION: 6 y/o M c/o with fever x 6 days, b/l conjunctiva, cervical lymphadenopathy, tachycardia, blanching erythematous rash on trunk, erythematous tongues and lips. 1. What is the diagnosis? 2. Presentation? 3. What is 1 complication you want to look out for? 4. Treatment?

KAWASAKI DISEASE: systemic vasculitis in kids <5. 2. Presentation (4/5 + fever >5 days) a. b/l conjunctivitis b. Strawberry tongue, erythema, fissured lips c. Polymorphous rash beginning in perianal area d. Swelling of palms, soles, erythema, desquamation e. cervical lymphadenopathy 3. Complication: coronary artery aneurysm -> give aspirin -or ventricular dysfunction = lymphocytic myocarditis --> heart failure (S3 gallop) 4. Treatment: IVIg

CLINICAL PRESENTATION: 3 y/o F c/o with vulvar pruritus. PE: vulva is excoriated and there is adhesive ridge fusing the posterior labia minora in the midline. Vagina is pale. 1. What is the diagnosis? 2. What are some factors that contribute? 3. How does it present? 4. What is the treatment?

LABIA ADHESION: fused labia minora in prepubertal girls (2-3) due to low estrogen production 2. Chronic inflammation (poor hygiene, diaper dermatitis) and trauma. 3. Present: Partial adhesions = pruritus --> excoriations. If complete adhesions = cover urethral meatus --> abnormal urinary stream 4. Treatment: is complete adhesions or symptomatic adhesions --> topical estrogen

CLINICAL PRESEN TATION: 14 month old M follow up with recurrent pneumonia. Chest tube placed for effusion with pleural fluid having minimal leukocytes and many gram + cocci. Also had nonpurulent staph cellulitis. PE: eruption of upper central incisors with surrounding erythema and ulceration. Lungs sounds are diminished at LT lower base with scattered crackles. Labs: Leukocytes = 70K, and high neutrophils CXR: opacification of LT lower lobe and small left effusion 1. What is the dx? 2. Presentation? 3. Most common pathogen? 4. Labs? 5. DDx?

LEUKOCYTE ADHESION DEFICIENCY: autosomal recessive defect in CD18 containing integrins (needed for neutrophil migration through vascular endothelium) on neutrophils 2. Presentation: recurrent skin (cellulitis) and mucosal infection, with GI and respiratory infection -No purulence since neutrophils can't travel to site of infection -Impaired wound healing after surgery or trauma -Delayed separation of umbilical cord (>3 weeks) 3. Most common pathogen: Staph aureus 4. Labs: very high WBC, and neutrophils 5. DDx: a. This is NOT Chediak-Higashi syndrome: lysosomal trafficking disorder with recurrent infections, oculocutaneous albinism and neuro abnormalities and neutropenia

CLINICAL PRESENTATION: 2 y/o M c/o with painless dark red stool and tired. PE: normal abdominal exam, no anal fissures or hemorrhoids. Labs: anemia and + FOBT 1. What is a diagnosis? 2. How do you diagnose? 3. Epidemiology?

MECKEL DIVERTICULUM: remnant of fetal vitelline duct (should be gone in 3rd trimester) and may have ectopic gastric mucosa -> secretes HCl --> small bowel ulcer + bleeding -> iron deficiency anemia (painless bloody stool) 2. Diagnosis: Meckel Scan (technetium 99m pertechnetate scan): increased uptakes by gastric mucosa -> identifies ectopic gastric tissue 3. Epidemiology: rule of 2 -age 2 -<2 inch -within 2 ft of IC valve

CLINICAL PRESENTATION: 7 month old M c/o with bilious vomiting. Last BM was 24 hrs ago, and tachypnea. PE: moan on palpation of abdomen, distended and hypertympanic. No bowel sounds. 1. What is the dx? 2. Presentation? 3. What happens if untreated? 4. How to dx? 5. Treatment?

MALROTATION WITH MUDGUT ROTATION: failure of embryonic gut rotation --> narrow mesenteric base of intestine --> small bowel twists freely around SMA --> can become ischemic and necrosis 2. Presentation: in babies with bilious emesis and distension (SBO) but if chronic --> abdominal pain, vomiting, failure to thrive. 3. Untreated: shock, hematochezia, peritonitis 4. Dx: Abdominal xray with dilated bowels -Upper GI series (Gold standard) = ligament of Treitz on right, corkscrew, or bird's beak, duodenum 5. Treatment: surgical emergency = Ex lap or Ladd procedure -NOT necrotizing enterocolitis from intestinal wall inflammation and necrosis from gas-producing bacteria: feeding intolerance, bilious emesis, abdominal distension in premies in first few weeks of life!

CLINICAL PRESENTATION: 11 y.o M c/o with scoliosis. Hx of myopia, upward lens dislocation. Dad had scoliosis and vision problems and died from heart problems. PE: long face, high arched palate with crowded teeth, upward dislocation of lens. Tall for age, long arms + legs, joint hypermobility, skin hyperelasticity. Diastolic murmur heart at aortic area 1. What is the dx? 2. Pathophys? 3. Presentation?

MARFANS: autosomal dominant disease cause by fibrillin-1 gene --> weakening of connective tissue 3. Presentation: a. Joint hypermobility b. Arachnodactyly (long fingers) = thumb sign c. Pectus Excavatum d. Scoliosis e. Lens dislocation f. Iridodonesis (rapid contraction/dilation of iris) g. Myopia (elongation of globe) h. Long face, high arch palate, crowded teeth i. Aortic regurg --> aneurysm + aortic arch dissection

CLINICAL PRESENTATION: 4 y/o M c/o with worsening ear pain after taking antibiotics for otitis media. Awakened with h/a, vomited, fever.. Had recurrent ear infection since infancy. PE: LT TM bulging, red and opaque. LT mastoid is tender, erythematous, and swollen. CBC: high WBC 1. What is the dx? 2. What organism? 3. Findings? 4. What is causing the headache? 5. Next steps?

MASTOIDITIS: infection of mastoid air cells from complication of otitis media 2. Organism: Step pneumonia 3. Findings: fever, otalgia, inflammation of mastoid, protrusion of auricle 4. Severe nocturnal Headache not relieved with NSAID: otitis media + mastoiditis = temporal BRAIN ABSCESS -Increased ICP from cerebral edema --> stimulates receptor in medullary vomiting center and area postrema --> fever + focal neuro deficits 5. Next steps: MRI of brain or CT --> ring enhancing lesion

CLINICAL PRESENTATION: 23 y/o F c/o with jaundice. From mom with SLE and ESRD. Delivery complicated with intraamniotic infection and arrest of labor --> C section. Baby given ampicillin and cefotaxime. Labs: high creatinine and total bilirubin. 1. Why increase of creatinine?

MATERNAL RENAL FAILURE --> creatinine crosses placenta --> even though normal urine output + normal PE = normal kidneys but creatinine from mom's creatinine level

CLINICAL PRESENTATION: 5 day y/o F c/o with white odorless vaginal discharge mixed with small amount of blood. Mo was treated with shot + pill for STI early in pregnancy. Girl was born with forceps assisted vaginal delivery. 1. What is the dx? 2. How long does it last? 3. Treatment?

MATERNAL WITHDRAWL OF ESTROGEN: maternal estrogen crosses placenta --> causes fetal endomentrial lining growth --> after dleivery, neonatal endometrium may slough off = self-limited, mucoid, vaginal bleeding. May also lead to temporary breast bus + external genitalia engorgement in 1st month of life 2. Lasts <1 week and in first 2 weeks of life. 3. Treatment: Reassurance. -This is NOT chlamydial: doesn't cause vaginal bleed + discharge

CLINICAL PRESENTATION: 6 y/o F c/o with pubic and axillary hair development. Had 2 long bone fractures. PE: 2 large hyperpigmented macules with irregular contours on LT side of back and chest. B/L breasts have budding and enlargement of areola. Pubic and axillary hair. 1. What is the dx? 2. Presentation?

MCCUNE-ALBRIGHT: GNAS mutation --> constant G protein activation and overproduction of pituitary hormones --> GnRH independent (peripheral) precocious puberty 2. Presentation: precocious puberty, polyostotic fibrous dysplasia (recurrent fractures), cafe-au-lait macules --> thyrotoxicosis, acromegaly, Cushing syndrome

CLINICAL PRESENTATION: 16 y.o M c/o with high fever, sore throat, severe diffuse leg pain. PE: diffuse erythema of posterior pharynx . Tonsils enlarged. B/L lower extremity tender to palpation with mottling of skin. 1. What is the next step? 2. Presentation? 3. How to dx? 4. Treatment? 5. Complications? 6. Prevention?

MENINGOCOCCAL MENINGITIS: from Neisseria meningitidis that is most common in young kids and young adults. 2. Presentation: a. Initial (nonspecific): fever, headache, vomiting, nonsuppurative pharyngitis, "worst they have ever felt", severe myalgia (diffuse leg pain), cold hands/feet mottled skin or pallor (IL-6 causes myocardial depression and poor perfusion) --> rapid disease progression b. Within 12-24 hrs: fever, nuchal rigidity, petechial rash, altered mental status 3. To diagnose: Lumbar puncture 4. Treatment: Ceftriaxone 5. Complications: a. Shock b. DIC c. Adrenal hemorrhage 6. Prevention: Droplet precaution, prophylaxis (rifampin, ciprofloxacin, ceftriaxone) for close contacts

CLINICAL PRESENTATION: 15 month old M c/o with cyanosis. Had teething, nasal congestion and fevers. Mom gave him Tylenol and topical anesthetic for toothache. Pulse ox 85%. PE: sleepy child with blue discoloration of skin/nails. O2 given but doesnt increase pulse ox. 1. What is the diagnosis? 2. Explain pathophys and why giving supplemental O2 didnt help 3. What would PaO2 look like? 4. How do you manage?

METHEMOGLOBINEMIA: exposure to oxidizing agent (anesthesia, dapson, nitiries) --> Fe2+ oxidized to Fe3+ --> can't bind to O2 --> increased affinity for O2 (left shift) --> prevent release in peripheral tissues (decreased O2 delivery + pulse ox at 85% and doesn't respond to supplemental O2). 3. PaO2: normal PaO2 because ABG measures unbound arterial O2, so false elevated 4. Management: methylene blue: electron acceptor for NADPH and reduced to leucomethylene blue. (Don't use for G6PD) If this unavailable, use vitamin c.

CLINICAL PRESENTATION: 9 month M c/o with swelling of FT and hands, refused to hold bottle of formula, fever, poor feeding and fussiness. Recently adopted from Nigeria. PE: dorsal surfaces of hands and feet on both sides, unable to grasp docs hands. XRAY: soft tissue swelling. 1. What is the dx?

MICROVASCULAR OCCLUSION: earliest manifestation of SICKLE CELL DISEASE (Dactylitis = hand-foot syndrome)--> symmetric swelling of hands + feet XRAY: soft tissue swelling

CLINICAL PRESENTATION: 11 y/o F c/o with visual disturbances. Saw flashing lights --> spots of vision loss. Had bifrontal throbbing h/a and nausea. Has photophobia. 1. What is the diagnosis? 2. Presentation? 3. Treatments?

MIGRAINE: episodic headaches lasting several hrs --> days 2. Presentation: pulsatile/throbbing headache, b/l or u/l, photophobia, phonophobia, nausea, vomiting, autonomic symptoms (facial sweating, tearing, nasal congestion), preceding aura (scintillating scotoma) 3. Treatments: Tylenol, NSAID, triptans (serotonin 5HT1B/1D agonist that decreases neurogenic inflammation and CGRP release) , antiemetics (promethazine, prochlorperazine), ergots (dihydroergotamine) -This is NOT acute angle-closure glaucoma: increased intraocular pressure, h/a, halos around lights, sever eye pain, poor pupillary reactivity to light, conjunctival redness

CLINICAL PRESENTATION: 1 wk old neonate c/o with rash on back and b/l groin areas. Sleeps most of the day in crib, swaddled in fleece blanket. Same brand of onesies underneath pjs. Look at picture 1. What is the diagnosis? 2. What is the cause? 3. How does is present? 4. Management?

MILIARIA RUBRA (HEAT RASH): dressed in many layers (onesies, pjs), swaddled in fleece --> hot/humid environments lead to sweat accumulation in eccrine sweat glands --> inflammatory reaction 3. PRESENTATION: erythematous, papular rash in intertriginous areas (groin, axillary anterior neck) or where skin is occluded (back, head) by clothing, hats, adhesive bandages 4. Management: avoid over bundling and switch to thin clothing made of cotton + put baby in cooler environment. If rash is severe or pruritic --> mild corticosteroid Dont use high dose corticosteroids in neonates due to risk of systemic absorption because of thin stratum corneum

CLINICAL PRESENTATION: 5 y/o M c/o with growths on face. Look at pic. 1. What is the dx? 2. How is it spread? 3. In kids, where does it present? 4. Treatment?

MOLLUSCUM CONTAGIOSUM: from poxvirus -firm, round, pink flesh colored papules with central umbilication 2. Transmission from direct contact, contaminated fomites (towels), autoinoculation seen in kids, sexually active, or IMC adults 3. Areas: trunk, intertriginous areas (axilla), face (esp eyelids) 4. Treatment: reassurance (resolve in 6-12 months)

CLINIAL PRESENTATION: 2 week old F had multiple large flat gray-blue patches on butt + back. Look at image.

MONGOLIAN SPOTS/CONGENITAL DERMAL MELANOCYTOSIS: resolve within a few years

CLINICAL PRESENTATION: 15 y/o F c/o with amenorrhea. Mom and sis had menarche at 13. PE: Tanner stage 4 breast and pubic hair, normal external female genitalia and shave axillary hair. Pelvic ultrasound: 2 normal ovaries but no uterus 1. What is the dx? 2. Presentation? 3. DDx?

MULLERIAN AGENESIS: failure of Mullerian duct development -Mullerian duct: becomes uterus + cervix + upper 1/3 of vagina 2. Presentation: primary amenorrhea (no uterus) , normal female external genitalia, blind vaginal pouch (genital tubercle create female external genitalia and lower 2/3 of vagina), no uterus, normal ovaries and secondary sex characteristics (normal estrogen and FSH) -DDx: a. 5-alpha reductase deficiency: testosterone can't convert to dihydrotestosterone --> female external genitalia + male internal genitalia (undescended testes) until puberty --> at puberty increased testosterone --> virilization = Trick: primary amenorrhea, normal secondary sexual characteristic, NO uterus

CLINICAL PRESENTATION: 3 y/o M c/ow with nasal discharge that has become thick and malodorous. PMH of congenitally acquired HIV. PE: purulent drainage from RT nostril and right nasal mucosa and turbinates are erythematous and swollen. 1. What is the dx?

NASAL FOREIGN BODY: insertion of intranasal foreign body by kids --> unilateral purulent discharge. -Based on object: a. Inorganic substance: asymptomatic b. Organic substance: unilateral, foul-smelling purulent discharge c. Button battery: epistaxis, purulent discharge --> nasal septal perforation -This is NOT acute bacterial sinusitis: B/L purulent nasal drainage, inflamed nasal mucosa + cough + fever + ill Trick: toddler with unilateral purulent rhinorrhea = intranasal foreign bod

CLINICAL PRESENTATION: 5 day old M born 32 wks gestation had 2 bilious emesis and 1 coffee grounds emesis. PE: drowsy but arousable. Abdomen is distended and tender t palpation, decreased bowel sounds. XRAY: pneumatosis intestinalis. 1. What is the diagnosis? 2. How does it present? 3. How do you manage? 4. How do monitor?

NECROTIZING ENTEROCOLITIS: in premies and low birth weight babies due to invasion of gas producing bacteria in gut mucosal wall --> intestinal inflammation + necrosis 2. Presentation: feeding intolerance (gastric residuals + bilious emesis) + distended abdomen + bleed (hematochezia + hematemesis), metabolic acidosis -high risk: premature and low birth weight babies: vulnerable to deceased bowel motility, increased intestinal permeability and immature host defenses 3. Management: -Bowel rest (discontinue enteral feeds, NG tube, TPN) -IVF -empiric broad spectrum antibiotics + send blood cx -do ex lap ONLY if bowel perforation (free intraperitoneal air), hemodynamic instability, persistent acidosis 4. Monitor: serial CBC, CMP, abdominal exam + imaging

CLINICAL PRESENTATION: 5 hr old F c/o with crying a lot from vacuum assisted vaginal delivery in mom with gestation DM. Had difficulty delivering shoulders. PE: small area of scalp edema, LT clavicular bone with crepitus, decreased Moro reflex on LT 1. What is the dx? 2. Risk factors? 3. Presentation? 4. Dx?

NEONATAL DISPLACED CLAVICULAR FRACTURE 2. Risk factors: -Fetal macrosomia (maternal DM) -Instrumental delivery (vacuum or forceps) -Shoulder dystocia 3. Presentation: crying/pain over affected extremity, crepitus over clavicle, asymmetric Moro reflex 4. XRAY 5. Treatment: -Reassurance (heal rapidly 7-10 days) -Gentle handling -Figure of 8 splint for clavicular fracture in older kids

CLINICAL PRESENTATION: 10 min old M c/o w/ low O2 sat, difficulty breathing. Born at 36 weeks. Mom had poorly controlled DM. Membrane ruptured 3 hrs before delivery. PE: cyanosis of lips and mucous membranes. Pt is grunting and had intercostal and subcostal retraction. Systolic ejection murmur at LUSB. Breath sounds decreased b/l. Pulse Ox = 64% in RT hand/foot. Orogastric tube places and CPAP with supplemental O2 started --> improves to 82%. Look CXR. Got blood cx and antibiotics started. 1. What is the Dx? 2. Explain CXR. 3. Risk factors? 4. Management?

NEONATAL RESPIRATORY DISTRESS SYNDROME (RDS): immature/inadequate surfactant --> alveolar collapse + diffuse atelectasis --> central cyanosis (blue lips, increased work of breathing), retraction, nasal flaring, grunting, tachypnea 2. CXR: ground glass opacities +/- air bronchograms (air filled bronchi surrounded by atelectasis) 3. Greatest risk factor = prematurity + poorly controlled gestational diabetes --> delay surfactant maturing mom hyperglycemic --> fetus hyperglycemic --> fetal high insulin --> antagonize cortisol --> delay maturation of phosphatidylcholine and phosphatidylglycerol used in surfactant 4. Management: CPAP and exogenous surfactant -This is NOT hypoxia due to RT-to-LT shunt because hypoxia wouldn't improve with O2, like here. -This is NOT persistent pulmonary HTN, which is caused by pulmonary vascular resistance because cyanosis + respiratory distress but normal CXR and preductal O2 sat > postductal O2 sat -This is NOT transient tachypnea from delayed resorption of alveolar fluid --> mild respiratory symptoms + cyanosis but CXR shows perihilar streaking + fluid in interlobar fissures

CLINICAL PRESENTATION: 6 day old M c/o with spasm in whole body, had difficulty latching on breast, fever. No prenatal care or vaccines. Umbilical cord cut with scissors. PE: irritable baby with hypertonicity, neck stiffness and inspiratory stridor. Umbilical stump is swollen and has purulent drainage. CSF: normal 1. What is the cause? 2. What is the presentation? 3. How do you treat?

NEONATAL TETANUS: unimmunized mom + poor cord hygiene --> C. tetani from soil makes tetanospasmin --> prevents GABA release at upper and lower motor neurons 2. Presentation: Spasm, hypertonicity (opisthotonus), trismus (lockjaw) from mastication muscle spasm, diaphragm + upper airway muscle contract --> inspiratory stridor, respiratory failure. 3. Treatment: intubate + sedate + muscle relaxers + paralytics --> Antibiotics, tetanus Ig -this is NOT neonatal meningitis = fever, neck stiffness, hypertonicity but high WBC in CSF -this is NOT neonatal botulism transmitted by Clostridium botulinum (honey and soil) --> weakness, constipation, poor feeding, hypotonia -this is NOT omphalitis: severe cutaneous infection from umbilical stump with erythema/swelling/pus --> sepsis but no spasm -this is NOT rabies: fever, muscle aches, paralysis but incubation period from wks-months

CLINICAL PRESENTATION: 6 hr old M c/o with tachycardia. Mom had Graves disease, became hypothyroid --> treated with levothyroxine in pregnancy. PE: low birth weight, irritable, warm and flushed skin. 1. What is the dx? 2. Presentation? 3. Treatment?

NEONATAL THYROTOXICOSIS (GRAVE'S): transplacental passage of anti-TSH receptor in 3rd trimester even if mom's getting treatment -> have excess thyroid hormone 2. Presentation: a. Warm, moist skin b. Tachycardia c. Poor feeding, poor weight gain, irritable d. Low birth weight or preemie. 3. Treatment: self-resolves within 3 months (maternal antibody disappears), Methimazole + Beta blocker

CLINICAL PRESENTATION: 2 y/o F c/o with fever, irritability, poor feeding. PE: abdominal mass in LUQ. CT: mass in LT lumbar area that crosses midline. Biopsy: small round blue cells with hyperchromatic nuclei surrounding central pale area containing neuropil that stain positive for neuron-specific enolase. Molecular analysis: high MYCN protein inside these cells. 1. What is the diagnosis? 2. Presentation? 3. How do you diagnose? 4. What do you see on histo? 5. Genetics?

NEUROBLASTOMA: most common neuroendocrine tumor in adrenal medulla in kids <4 that originate from neural crest cells. 2. Presentation: abdominal distension, firm irregular abdominal mass that crosses midline, opsoclonus-myoclonus syndrome (dancing eyes and feet) 3. Diagnosis: high HVA ((Homovanillic acid) and VMA (vanillylmandelic acid) (catecholamine metabolites), 4. Histo: Homer-Wright rosettes (small round blue cells with hyperchromatic nuclei surrounding central pale area with neuropil) that stain positive for bombesin and NSE (neuron-specific enolase) with high MYCN protein/ 5. Genetics: amplification of N-myc oncogene -Wilms tumor: abdominal mass that is smooth and unilateral

CLINICAL PRESENTATION: 13 month F c/o with bruising after being in dad's house. 3 weeks ago recovered from flu. Lost 1 lb. PE: rapid, jerk movements of both eyes with infraorbital ecchymoses b/l. Abdominal distension with frim mass anterior to LT flank. 1. What is the diagnosis? 2. Presentation? 3. Is there abuse? 4. How to diagnose?

NEUROBLASTOMA: neural crest cell malignancy from sympathetic ganglia. Diagnosed at <2 y/o (most common cancer in babies) --> develop in sympathetic chain + adrenal medulla 2. Presentation: Palpable abdominal mass(adrenal medulla), fever, weight loss, periorbital ecchymoses (by orbital mets that obstruct palpebral blood vessels), Opsoclonus-myoclonus syndrome (autoimmune paraneoplastic finding with rapid eye movements, rhythmic jerking of trunk/extremities), easy bruising (mets to bone marrow so affect platelet function) 3. Child abuse: basilar skull fracture --> periorbital ecchymoses but no abdominal mass or opsoclonus 4. Diagnoses: elevated catecholamine, small round blue cells on histology, N-myc gene amplification

CLINICAL PRESENTATION: 13 y/o F c/o with skin lesions in trunk (not painful or itchy) but increased in size/#. PE: large, uniformly pigmented macular skin lesion. Look at eye exam. 1. What is the diagnosis? 2. Presentation?

NEUROFIBROMATOSIS TYPE 1: autosomal dominant NF1 mutation on chromosome 17 --> no neurofibromin 2. Presentation: CICLOPSS a. Cafe-au-lait spots b. intellectual disability c. Cutaneous neurofibroma (peripheral nerve shealth tumors) d. Lisch nodules e. Optic Glioma f. Pheochromocytoma g. Seizures h. Skin: clustered freckle

CLINICAL PRESENTATION: 6 month F c/o with irritability, listlessness, can't sit or roll. Previous respiratory infections. PE: hypotonic, hepatosplenomegaly, protuberant abdomen. Bright red macula, cervical lymphadenopathy. Diminished deep-tendon reflexes. 1. What is the diagnosis? 2. Explain pathophys and subcategories 3. How does it present? 4. What is the prognosis? 5. What is the DDx?

NIEMANN-PICK DISEASE: autosomal recessive disease with sphingomyelinase deficiency -3 types, a. Type A = most severe (complete absence of ASM) --> found in Ashkenazi Jews b. Type B: no sphingomyelinase (can't break down fat sphingomyelin) because mutation in SMPD1 gene --> residual remaining --> no neuro involvement just progressive splenomegaly c. Type C = mutation in NPC1 & NPC2 Sphingomyelin: fat in membrane of many different cells Histology: foam cells = macrophages with lipid 3. Presentation: hepatosplenomegaly (jaundice), protuberant abdomen, cherry red macula, loss of motor milestones at 2-6 months, interstitial lung disease (macrophages accumulate) 4. Prognosis: Type A fatal at 3 y/o. No treatment, so supportive 5. DDx: Tay Sachs caused by B-hexosaminidase A deficiency. Also has loss of motor milestones, hypotonia, cherry red macula BUT NO HEPATOSPLENOMEGALY and has Hyperreflexia.

CLINICAL PRESENTATION: 7 y/o M c/o with bed wetting at night, strong urinary stream. Irritable and inattentive and disrupts classmates. PE: tonsils symmetrically enlarged. 1. What is this called? 2. How do you diagnose?

NOCTURNAL EMURESIS: nighttime urinary incontinence >5 y/o in kids with obstructive sleep apnea (tonsillar hypertrophy) --> arousal response on bladder + behavioral concerns (inattentive) + mood changes from sleep disturbance. 2. Diagnosis: nocturnal polysomnography (sleep study) -You would do urodynamic testing for bladder dysfunction (daytime incontinence, weak stream, dribble, straining, urgency -Imipramine: tricyclic antidepressant for nocturnal enuresis *toilet training at age 2-4 -bedwetting normal before age 5

CLINICAL PRESENTATION: 5 y/o M c/o with RT eye pain, had blurry vision, fever. PMH of otitis media, dental caries, recurrent sinusitis, atopic dematitis. Allergic to mosquito --> urticaria. PE: tires, 20/70 on RT eye and 20/10 on LT eye, conjunctival injection, proptosis, periorbital edema, erythema on RT. Limited adduction of RT eye and pain with extraocular movements. Tenderness over RT cheek. Large malodorous dental caries in LT lower second molar. 1. What is the dx? 2. Common risk factors? 3. Treatment?

ORBITAL CELLULITIS: cheek tenderness, fever, pain with eye movements, ophthalmoplegia (weakness with eye movement), proptosis (protrusion of eyeball), visual changes 2. Risk factors: Sinusitis (most common), orbital trauma 3. Treatment: IV antibiotics, surgical drainage for abscess (dx with CT)

CLINICAL PRESENTATION: 16 y/o M c/o with eye injury after being shot by paintball. Felt immediate pain and difficult seeing. PE: periorbital edema and ecchymosis with proptosis of LT eye. Rock hard induration over LT eyelid. Visual acuity on LT eye is 20/100 and 20/20 on RT. Relative afferent pupillary defect in LT eye. 1. What is the diagnosis? 2. What are risk factors and explain pathophys? 3. Presentation? 4. How do you manage?

ORBITAL COMPARTMENT SYNDROME: from trauma, coagulopathy, infection, surgery --> increased intraorbital pressure 3. Presentation: periorbital swelling, ecchymosis, proptosis (exophthalmos), diffuse subconjunctival hemorrhage, limited extraocular movements, afferent pupillary defect (both pupils dilate in response to light), rock-hard eyelid, acute vision loss 4. Management: emergency surgical decompression via lateral canthotomy with cantholysis (temporary: elevate head of bed and pain control) --> can progress to ischemia of optic nerve and globe

CLINICAL PRESENTATION: 7 y/o M c/o with RT leg pain after pall. PMH of 3 fractures after minor injuries. PE: translucent and gray teeth, hyperlaxity of joints of hands, RT thigh tender to palpation. 1. What is the dx? 2. Presentation?

OSTEOGENESIS IMPERFECTA: autosomal dominant mutation in Type I collagen gene (COL1A1) defect 2. Presentation: a. Frequent fracture b. Blue sclera c. Conductive hearing loss d. Short to normal height e. Dentinogenesis imperfecta f. Joint hypermobility g. Lethal = utero or neonatal fracture OR pulm failure

CLINICAL PRESENTATION: 10 y/o c/o with RT ear pain and sensation of something stuck inside. Recurrent otitis media complicated by persistent effusion and needed tympanostomy tube placement, which fell out and no ear infections since age 3. Not UTD with vaccine. PE: tenderness to movement of pinna during otoscopy. Canal is red and swollen. TM seems and clear with no fluid. 1. What is the dx? 2. Risk factor? 3. Micro? 4. Treatment?

OTITIS EXTERNA (SWIMMER'S EAR): pinna tenderness, pruritic and painful external auditory canal. 2. Risk factors: a. Water exposure (most common which raises pH which prevents acidity of ear canal from inhibiting bacteria growth) b. Trauma (Q-tip) c. Foreign body (headphone) d. Derm (eczema, contact dermatitis) 3. Micro: -Pseudomonas aeruginosa (most common and grows in ear) -Staph 4. Treatment: cover pseudomonas and staph -Fluoroquinolones (ciprofloxacin)

CLINICAL PRESENTATION: 3 y/o M c/o with itchy rash near butt. OTC barrier ointments and antifungals not working. Toilet trained but uses diapers at night. Last few days had pain with bowel movements and blood on toilet paper. Sis had pharyngitis a few weeks ago. PE: bright red sharply defined rash that extends 2 cm circumferentially around anus. 2 fissures in perianal region. 1. What is the diagnosis? 2. Treatment? 3. DDx?

PERIANAL STREP DERMATITIS: close contact with recent strep infection --> bright, sharply demarcated confluent erythema in perianal or perineal region with itchiness and pain esp with stooling --> perirectal fissure + bloody stool --> due to pain pts are constipated 2. Treatment: amoxicillin 3. DDx: a. Irritant contact diaper dermatitis: most common diaper rash with erythematous papules/plaques that spares skinfolds (prolonged exposure to urine or stool esp diarrhea) --> Treat: topical barrier (petrolatum, zinc oxide) b. Candida diaper dermatitis: 2nd most common diaper rash with beefy-red confluent plaques that involve skinfolds + satellite lesions --> treat: antifungals (nystatin)

CLINICAL PRESENTATION: 3 week old F c/o with apnea, cyanosis for 12 sec, 48 hrs of gagging and gasping for air, coughing harshly during feed and stopped breathing. Has rhinorrhea and increasing cough with vomiting. PE: nasal congestion and clear rhinorrhea. Referred upper airway congestion 1. What is the dx? 2. Cause? 3. Presentation? 4. Dx? 5. Treatment?

PERTUSSIS: infection by Bordetella pertussis transmitted by respiratory droplets that occurs in unvaccinated babies 3. Presentation: 3 stages: 1. CATARRHAL (1-2 weeks): mild cough, rhinitis 2. PAROXYSMAL (2-6 weeks); gagging, gasping, cyanosis, life-threatening apnea, harsh whooping cough with posttussive emesis 3. CONVALESCENT (weeks-months): resolve 4. Dx: Pertussis cx or PCR; Lymphocyte predominant leukocytosis 5. Treatment: Macrolides (Azithromycin_ -Vaccine at 2, 4, 6 months --> 12-15 months and 4-6 yrs

CLINICAL PRESENTATION: 13 y/o F c/o with fatigue esp after walking to classes. Menarche t 12y/o and happens after 28 days. LMP was 6-7 days and has abdominal cramps. PE: brown macules on lips and buccal mucosa. Labs: microcytic anemia 1. What is the diagnosis? 2. Presentation? 3. What is this pt in risk for? 4. Dx? 5. Management?

PEUTZ-jEGHERS SYNDROME: autosomal dominant familial polyposis disease caused mutation in tumor suppressor gene --> unregulated tissue growth in GI tract 2. Presentation: a. hyperpigmented mucocutaneous macules on lips, buccal mucosa, palms + soles b. Hamartomatous polyps in GI tract -> iron deficiency due to occult bleeding 3. Risks: increased cancer risk )GI, breast, genital) 4. Dx: genetic testing 5. Management: a. annual anemia screening b. upper and lower endoscopies c. If large lesion --> polypectomy

CLINICAL PRESENTATION: Newborn had respiratory distress after delivery born at 27 weeks to mom w/o prenatal care. Pulse ox: 84% PE: flattened facies, intercostal retractions, decreased aeration to b/l lungs, distended abdomen, soft suprapubic midline mass. Cyanotic extremities and b/l clubfeet. 1. What is the dx? 2. What is the presentation? 3. What else can cause this?

POSTERIOR URETHRAL VALVES: abnormal folds in posterior urethra --> obstruct urinary flow --> dilation of bladder, ureters and kidneys (check prenatal U/S to see abdominal distension, suprapubic mass) --> poor urine output --> oligohydramnios (fetal urine = amniotic fluid) --> PULMONARY HYPOPLASIA(Hypoxia, decreased aeration, accessory muscle use, cyanosis) = POTTER SEQUENCE 2. Presentation: flat facies, positional limb deformities (club feet, hip dislocation), pulmonary hypoplasia -PUV pts will also have weak urinary stream + renal failure postnatally 3. Other causes: renal agenesis, urinary tract obstruction, ARPKD, preterm rupture of membranes) Trick: abdominal distension + poor urine output + respiratory distress + weight gain (urine retention_

CLINICAL PRESENTATION: 9 y/o M c/o with lethargy, h/a, nausea, decreased output, hypertension. Had sore throat that resolved. Labs: high creatinine. UA: blood + proteinuria 1. What is the diagnosis? 2.Presentation? 3. Labs? 4. Management?

POSTSTREP GLOMERULONEPHRITIS: several weeks after Group A strep infection (pharyngitis, impetigo) -> immune-complex deposition b/w GBM and mesangium with C3 and CH50 accumulation 2. Presentation: a. hematuria b. edema (damage to podocytes --> protein + RBC loss) c. HTN 3. Labs: high creatinine, low C3 & CH50 (possible decrease C4), + ASO test 4. Management: a. loop diuretics (edema + HTN) b. treat HTN c. if refractory: hemodialysis 5. Prognosis: recovery in kids. Adults can have CKD

CLINICAL PRESENTATION: 4 y/o M c/o with binge eating, constantly hungry. PMH in 1st month of life for NG feeding due to weak suck and hypotonia. The pt is status post orchioplexy for b/l cryptochidism. Has physical and speech therapy. PE: short, narrow forehead, down turned mouth, almond shaped eyes, small hands and feet. Low muscle tone and microphallus. 1. What is the diagnosis? 2. Explain pathophys. 3. What is the presentation? 4. How to diagnose? 5. What should you manage? 6. What are some complications? 7. What are DDx?

PRADER-WILLI SYNDROME: Due to maternal uniparental disomy (Pts inherit both copies of chromosome 15 from mom and deletion of paternal copy of chromosome 15q11-q13). 3. Presentation: a. Poor suck/feeding problems b. binge-eating + obesity c. hypotonia d. Short e. Hypogonadism f. Intellectual disability g. Face differences: narrow forehead + almond shaped eyes + downturned mouth 4. Diagnosis: karyotype + methylation studies + FISH + microsatellite probes 5. Manage: obesity management 6. Complications: a. sleep apnea b. DM Type 2 c. Gastric distension d. Death by choking 7. DDx: a. Angelmann syndrome: deletion of maternal copy of 15q11-q13: short, intellectual disability, smilinglaugh, hand-flapping, ataxia, seizures b. Beckwith-Wiedemann Syndrome: dysregulation of imprinted gene expression in 11p15 --> macroglossia, rapid growth, hemihyperplasia, umbilical hernia/omphalocele c. Klinefelter Syndrome (XXY): primary hypogonadism with normal male external genitalia, small testes and tall d. Fragile X: prominent forehead, macroorchidism , intellectual disability e. Lesch -Nyhan: hypoxanthine-guanine phosphoribosyl transferase enzyme deficiency --> hyperuricemia, self mutilation, mental retardation, extrapyramidal symptoms (dystonia, choreoathetosis)

CLINICAL PRESENTATION: 5 y/o F c/o with pubic hair. Family Hx of DM. Obses. PE: facial acne. No breast buds. Pubic hair across pubis and both axillae. Normal external genitalia. Normal bone age. 1. What is the dx? 2. What is it a risk factor for?

PREMATURE ADRENARACHE: in obese kids --> increase adipose tissue trigger excess insulin production --> stimulate adrenal gland to produce sex hormones --> early acne and pubic/axillary hair + NORMAL bone age 2. Risk for: PCOS, DM, metabolic syndrome

CLINICAL PRESENTATION: 7 y/o F c/o with painful LT swollen eye and fever. Has seasonal allergies. PE: LT eye tender, swollen, erythematous eyelids and small abrasion below eyelid. Mild conjunctival injection. 1. What is the diagnosis? 2. What is the presentation? 3. Treatment? 4. What is the DDx?

PRESEPTAL CELLULITIS: infection anterior to orbital septum from abrasion, insect bite --> allow S. aureus or Strep pyogenes to enter preseptal space 2. Presentation: eyelid erythema, swelling, chemosis with NO extraocular muscle involvement or orbital fat involvement 3. Treatment: oral antibiotics (clindamycin) 4. DDx: orbital cellulitis: eyelid erythema, swelling, chemosis AND pain on EOM, proptosis, ophthalmoplegia with diplopia. Treatment for this is: IV antibiotics and maybe surgery -This is NOT anterior uveitis: inflammation of anterior chamber of eye from infection/autoimmune (JIA), b/c also blurry vision, painful eye movements. -This is NOT optic neuritis: inflammatory demyelinating condition with MS --> also acute vision loss, pupillary defects

CLINICAL PRESENTATION: 6 y/o M c/o with bed-wetting at ngiht. Behavior modifications helped improve symptoms, but since kindergarten started, it happened again. Last week mom noticed liquid stool on undies. PE: LT side of abdomen is firmer compared to the right. Normal rectal sphincter tone. 1. What is the dx? 2. What other symptoms associated? 3. What are some triggers? 4. Management?

PRIMARY NOCTURNAL ENURESIS: nighttime urinary incontinence at >5 in boys 5-8 and may have family hx (risk factor) . 2. Other symptom: constipation or leakage of impacted stool because bladder close to rectum so fecal retention --> decreased functional bladder capacity + instability of detrusor muscle -Can be after social changes (new school, family discord) that lead to stool-withholding --> LT sided firmness 4. Management: Laxative (polyethylene glycol)

CLINICAL PRESENTATION: 3 y.o F c/o with chronic nonproductive cough. 3 weeks ago had LLL pneumonia got amoxicillin but cough didnt improve. Family lives in shelter. PE: decreased breath sounds on the left with expiratory wheezing. CXR: LLL infiltrate and hilar adenopathy. 1. What is the diagnosis? 2. What are risk factors? 3. How do you test?

PRIMARY PULMONARY TUBERCULOSIS: in kids with risk factors that have chronic cough, focal pneumonia and hilar adenopathy (Ghon complex), failure to thrive, weight loss, fatigue -unlike this, secondary (reactivation TB) has cavitary lesions 2. Risk factors: a. Immunosuppression b. Endemic c. Exposure d. Homeless shelter, prison, healthcare facility 3. Screening: Tb skin test (purified protein derivative) or Interferon gamma release -confirm: sputum sample in older kids/adults and gastric lavage in young kids -This is NOT mycoplasma pneumonia = atypical b/l pneumonia in school-age kids -This is NOT pneumococcal pneumonia = focal pneumonia in kids and can be treated with antibiotics -This is NOT RSV = viral bronchiolitis in young kids, diffuse wheeze, crackles

CLINICAL PRESENTATION: 5 y/o M c/o with behavioral concerns. Hx of physical abuse + neglect. Does not follow directions, rarely participates and doesn't respond to praise. Aunt tries to love him but no change. Last week hit a classmate. Affect is indifferent with constricted range. 1. What is the diagnosis? 2. What is a cause? 3. Presentation? 4. Management>

REACTIVE ATTACHMENT DISORDER: normal development of emotional bonding to primary caregiver interrupted by inadequate care (abuse, neglect, foster care) --> 3. Presentation: limited positive affects doesn;t seek reassurance or respond to comfort, unexpected irritability or aggression in safe encounters (hit classmate, throw objects), toileting & sleep difficulties, anxiety, aggression, hyperactivity 4. Management: Early intervention promoting: consistent responsive caregiving, safe, stable & enriching environment

CLINICAL PRESENTATION: 4 y/o M c/o with fever, neck pain, runny nose, nasal congestion, sore throat, refusal to eat or drink. PE: b/l anterior cervical lymphadenopathy, passive extension of neck painful, muffled voice, mouth opening limited, tonsils erythematous and symmetrically enlarged with gray exudates. Look at neck XRAY. 1. What is the diagnosis? 2. What bacteria? 3. Explain xray. 4. Management? 5. DDx?

RETROPHARYNGEAL ABSCESS: soft tissue infection due to Strep pyogenes, staph, oral anaerobes in between pharynx and vertebral fascia. -In kids from 6 months - 6 yrs post-URI. 3. XRAY: widened prevertebral space 4. Management: antimicrobial treatment and if large do surgical drainage to prevent obstruction -This is NOT peritonsillar abscess: fever, muffled voice, throat pain, tonsillar swelling with uvular deviation -This is NOT epiglottitis: fever, drooling, stridor with thumb sign on xray -This is NOT Tracheitis by bacterial superinfection after URI: croup-like symptoms (fever, stridor). Neck XRAYS show tracheal narrowing. -This is NOT Diphtheria: gray-colored tonsillar pseudomembrane

CLINICAL PRESENTATION: 27 y/o M is Rh negative and was given RhoGAM. Baby delivered who is Th positive, but mom had placental retention and heavy vaginal bleeding. Rosette test is + 1. What could have possibly happened? 2. What is the rosette test? 3. What is the next test you should do after that?

RH INCOMPATIBILITY: usually if baby is Rh + and mom is Rh - and mom had previous baby that is Rh + --> baby could have jaundice, anemia, hydrops fetalis (swelling face and abdomen). 2. Rosette test is done when mom is Rh- and baby is Rh+, but mom had postpartum bleeding and Rh+ fetal blood now in her blood stream 3. Th next test is Kleikauer-Betke test: see % of fetal RBC in mom's bloodstream to determine amount of Anti-D Ig needed to give

MANAGEMENT: 1. What does rotavirus cause? 2. What kind of vaccine is it and when is it administered? 3. What are 3 contraindications?

ROTAVIRUS: highly contagious virus transmitted by fecal-oral route --> fever, vomiting, watery diarrhea 2. Vaccine: live attenuated oral vaccine given 2-6 months 3. Contraindications: a. Allergy to ingredients b. SCID c. Hx of intussusception

CLINICAL PRESENTATION: 10 month old F c/o with rash on chest, abdomen, extremities, fever. PE: small tender lymph nodes in suboccipital, posterior auricular and posterior cervical areas. Patchy erythema on soft palate. Look at pic. 1. What is the dx? 2. Treatment? 3. DDx?

RUBELLA (GERMAN MEASLES) -in children: fever, cephalocaudal spread of maculopapular rash, subocciptal and posterior auricular lymphadenopathy -some have Forchheimer spots: petechiae or erythematous papules -in congenital: cataracts, PDA, sensorineural hearing loss 2. Treatment: supportive 3. DDx: -This is NOT Scarlet fever associated with strep: fever, palatal petechiae and sandpaper rash (esp axilla and groin) -This is NOT measles: maculopapular rash from cephalocaudal and darkens to red-brown. very high fever, coryza, cough

CLINICAL PRESENTATION: 10 y/o M c/o with rash on trunk, underarms and groin. Had headache, fever, sore throat. PE: fine, erythematous papular rash with rough texture on anterior trunk. More concentrated in axillae and groin and blanches with pressure. Tender, shotty anterior cervical lymphadenopathy, posterior oropharynx is erythematous with tonsillar exudates and soft palatal petechia. 1. What is the dx? 2. Presentation?

SCARLET FEVER: from Group A strep which produce erythrogenic exotoxin --> sandpaper texture rash more pronounced in skin folds ->when it resolves have desquamation of rash = peeling of hands/feet -Also erythematous pharynx with tonsillar exudate, palatal petechiae, strawberry tongue, ANTERIOR cervical lymphadenopathy -Mono has exudative pharyngitis, rash, POSTERIOR cervical lymphadenopathy

CLINICAL PRESENTATION: 7 y/o M c.o with atopic dermatitis flareup. Prescribed topical corticosteroid and topical emollients. Look at skin. 1. What is the picture showing? 2. What is the pathophys of eczema? 3. Treatment?

SECONDARY IMPETIGO ATOPIC DERMATITIS: lack of improvement to emollient and corticosteroid --> to think about secondary infection --> IMPETIGO (staph) or ECZEMA HERPITICUM (HSV) 2. Pathophys: filaggrin gene mutation 3. Treatment: Topical mupirocin or oral cephalxin

CLINICAL PRESENTATION: 7 y/o F c/o with wetting bed. Has last drink at 6 PM and goes to bed at 8:30. Parents divorced 6 months ago. 1. What is the cause? 2. Next step?

SECONDARY NOCTURNAL ENURESIS: new onset nighttime wetting after prolonged continence. This may be due to: -Medical condition (UTI, DM) -Psychological stressor 2. next step: get UA -Enuresis alarm: kid wakes up prior to nighttime voiding for PRIMARY nocturnal enuresis despite behavioral modifications.

CLINICAL PRESENTATION: 3 month old African American M c/o with persistent crying after mom lifted legs to change diaper. Pt is fussy, refused to breastfeed and has fever. PE: hepatomegaly, cries when upper Rt thigh is palpated and resist movement along hip. Labs: anemia, high WBC 1. What is the diagnosis? 2. What caused fever? 3. Management?

SEPTIC ARTHRITIS IN INFANTS: fever, high WBC and pain in hip movement, lack of movement, excess fussiness, lie with affected hip flexed, abducted and externally rotated 2. Bugs: Staph aureus but in kids <3 months Group B strep and gram - (Klebsiella pneumonia, E.coli) 3. Management: joint aspiration and antibiotics -REMEMBER; SICKLE CELL DOES NOT PRESENT UNTIL 6 MONTHS!!!!

CLINICAL PRESENTATION: 16 y/o F c/o with joint pain, pruritic rash and fever. 2 days had 10 days of Augmentin for otitis media. PE: blanchable, erythematous urticarial rash on hands/feet, lymphadenopathy, tender joints. Labs: normal CBC, CMP, U/A 1. What is the dx? 2. What is the presentation? 3. Treatment? 4. DDx?

SERUM SICKNESS-LIKE REACTION: triggered by Beta-lactam (amoxicillin) or sulfa antibiotics 5-14 days from genetic deficiency in eliminating metabolic by-products of meds --> hapten-mediated cytotoxic T cell injury 2. Presentation: fever, arthralgia (joint pain), urticarial rash, diffuse lymphadenopathy 3. Treatment: spontaneous but discontinue drug 4. DDx: Serum sickness triggered by foreign proteins in antitoxins, antivenoms, monoclonal Abs --> generate high titer immune complex --> extensive complement activation --> high fever, arthralgia, urticaria --> resolve spontaneously

CLINICAL PRESENTATION: 1 y/o M c/o with severe respiratory distress and hypoxia needing endotracheal intubation and mechanical vent. PMH of pneumonia, chronic thrush, otitis media. Vaccines not UTD due to prior illness. Small for age. PE: diffuse crackles in b/l lungs. PE: low WBC, low CD19+, no CD3+. low IgG, IgA, IgM. 1. What is the diagnosis? 2. Explain labs. 3. Management?

SEVERE COMBINED IMMUNODEFICIENCY: X-linked/autosomal recessive caused by gene defect leading to failure of T cell development --> increase risk for infections + cause B cell dysfunction + failure to thrive + chronic diarrhea 2. Labs: low WBC, low CD19+, no CD3+, low IgG, IgA, IgM 3. Management: stem cell transplant

CLINICAL PRESENTATION: 4 y/o M c/o with fever, runny nose, cough, increasingly restless, hallucinations. Treated with OTC nasal decongestants and antihistamines. PE: slightly red oropharynx and hallucinations. 1. Why is the patient having hallucinations? 2. What could be other causes?

SIDE EFFECT OF ANTIHISTAMINES (DIPHENHYDRAMINE, DOXYLAMINE): also have anticholinergic properties that cause confusion and hallucinations. 2a. Also Alpha-adrenergic agents (phenylephrine, pseudoephedrine): constrict blood vessels + decrease nasal congestion + agitation/psychosis b. Dextromethorphan (cough suppressant): NMDA antagonist that causes dissociative symptoms + hallucinations -This is NOT encephalitis b/c no focal neuro deficits, ataxia, seizures -This is NOT hyperpyrexia which can cause delirium and hallucinations but high fevers (>103) -This is NOT Reye syndrome caused by kid taking aspirin which causes hepatic failure, altered mental status, vomiting, seizure, coma

CLINICAL PRESENTATION: 2 y.o M c/o with convulsions that lasted 3 min. EMT said kid woke up sleepy and confused. Had rhinorrhea for past 2 days and fever. Family hx of epilepsy. PE: fever, clear rhinorrhea. 1. What is the dx? 2. Presentation? 3. Management?

SIMPLE FEBRILE SEIZURE: benign convulsion when kids age 6 months-5 years have high fever, recent immunization and family hx of febrile seizure 2. Presentation: generalized tonic-clonic that last <15 min, postictal period but return to baseline within mins. Do NOT recur within 24 hrs. 3. Management: a. abortive therapy, Tylenol, reassurance

CLINICAL PRESENTATION: 10 y/o F c/o with limp, Rt groin pain 2 weeks ago after falling. Unable to bear weight on RT leg. PMH of autoimmune hypothyroidism and takes levothyroxine. PE: RT hip is flexed, there is external rotation of hip. When LT hip is flexed hip remains in neutral position. 1. What is the dx? 2. What is a risk factor? 3. What is presentation? 4. Treatment? What is NOT recommended?

SLIPPED CAPITAL FEMORAL EPIPHYSIS: displacement of proximal femur usually seen in obese boys. 2. Risk factor: hypothyroidism --> b/l disease 3. Presentation: limited internal rotation of hip. 4. Treatment surgical screw fixation -Closed reduction not recommended since it can cause damage to tenuous blood supply of femoral head --> avascular necrosis

12 y/o obese F c/o with dull ache in left thing worse with jumping rope and better with rest/ibuprofen. PE: soft, nontender, mobile lymph node, left hip decreased ROM with internal rotation, left foot points laterally. 1. What is the diagnosis and pathophys? 2. Symptoms? 3. What about the lymph nodes?

SLIPPED CAPITAL FEMORAL EPIPHYSIS: if obese teen --> if excess shearing at growth plate --> anterosuperior displacement of proximal femur diaphysis --> posteriorly displaced femoral head 2. Symptoms: chronic dull ache of hip/thigh/knee worse with activity, limited internal rotation of hip, knee points laterally upon hip flexion, affected foot sole points to the other foot, Trendelenburg sign, atrophy of quads + gluteus muscles 3. There are no systemic findings (fever/weight loss/lymphadenopathy) so no leukemia. Those are normal physiological nodes.

CLINICAL PRESENTATION: 9 y/o M c/o with behavioral changes (always been active --> more irritable). Got into fight, upset in mornings because doesn't wan to go to school, declining academics, doesn't participate in group activities. Classmates called him a baby b/c he uses fingers to count and reads slowly 1. What is the dx? 2. Risk factors?

SPECIFIC LEARNING DISORDER: difficulty acquiring core academic skills and achievement below potential --> negative self concept, social anxiety, behavioral issues -> doesn't want to go to school 2. Risk factors: a. premature b. prenatal alcohol exposure c. low SES d. Psych problems -This is NOT Disruptive mood dysregulation disorder: persistent irritable or angry mood with repetitive temper outbursts out of proportion

CLINICAL PRESENTATION: 4 y/o M c/o with crossed eyes. LT eye slightly deviated towards nose. Visual acuity: 20/20 on RT and 20/50 on LT. Corneal light reflex is central in RT and temporal in LT eye. When RT is covered, LT shifts from nose to temporal. When LT is covered, RT stays in midline. Red reflex more intense in LT eye. 1. What is the diagnosis? 2. How does it present? 3.

STABISMUS (OCULAR MISALIGNMENT):

CLINICAL PRESENTATION: 5 Y/O F spits up breast milk while asleep. Rests on mom's chest in prone position when both awake. Uses pacifier. Parents concerned about varied breathing pattern because she takes rapid, shallow breaths after 5-10 sec pauses. Dad smokes cigarettes. Neighbor's 2 month old recently passed away in her sleep. 1. What did the other infant have? 2. Of all these factors which impacts patients' safety? 3.

SUDDEN INFANT SYNDROME: leading cause of mortality in baby from 1 month-1 yr from delayed brain maturation from inadequate CNS arousal responses to hypoxia and hypercarbia 2. Risk factors: -substance abuse (cigarettes, drugs, alcohol) -maternal age <20 -inconsistent prenatal care --premature or low birth weight -sleeping prone or side-sleep (should be supine with nothing on crib) -soft sleep surface -bed sharing -Pt has normal breathing with bried 5-10 sec pauses.

CLINICAL PRESENTATION: 8 y/o F c/o with involuntary movements of hans and body. Worse when pt is anxious and can;t suppress them. Urge for frequent hand cleaning. PE: inappropriate laughing and frequent throat clearing. Tonsils enlarged and hyperemic. Generalized involuntary movements of body. Pt can't maintain grip strength because of irregular hand and arm movements. 1. What is the dx? 2. Presentation? 3. How to dx? 4. Treatment? 5. Prognosis?

SYNDENHAM CHOREA: autoimmune complication after Group A strep infection --> structures similarities b/w epitopes of GAS and surface gangliosides of dopaminergic neurons in basal ganglia (molecular mimicry = cross reactivity of ASO) 2. Presentation: a. Chorea: jerky irregular involuntary contractions o flimbs + face b. Milkmaid grip: poor execution of motor tasks due to hypotonia + chorea --> weak hand grip c. Tics (repeated throat clearing) d. Emotional lability, OCD, anxiety 3. To diagnose: GAS testing (throat cx, ASO, anti-DNAse B titers), cardiac testing (echo, EKG to rule out rheumatic fever) 4. Treatment: chronic antibiotics (penicillin G), symptomatic (haloperidol) 5. Prognosis: spontaneous remission + increased risk of rheumatic heart disease

CLINICAL PRESENTATION: 7 month old M c/o with recurrent infections (otitis media, bronchiolitis). PE: red, scaly lesions over cheeks b/l with surrounding excoriations. Labs: low IG, normal response to vaccine (titers) 1. What is the dx? 2. Treatment?

TRANSIENT HYPOGAMMAGLOBINEMIA OF INFANCY: low IgG and normal Ab response to vaccine -prolonged physiologic nadir of IgG beyond 6 months (infant make their own IgG) -recurrent respiratory infections -Eczema, food allergies, asthma 2. Treatment: self-resolves -NOT Wiskott-Aldrich syndrome: genetic disorder with eczema, recurrent infections, microthrombocytopenia

CLINICAL PRESENTATION: 1 y/o M c/o after moving with not eating any fruits or vegetables. CBC: microcytic anemia, high reticulocytes, normal RCDW and normal RBC count 1. What is is the dx? 2. What do labs show?

THALASSEMIA MINOR: impaired production of globin chains of Hb --> incidental on lab test and dc at universal screening at age 1. 2. Labs: a. Microcytic anemia (decreased MCV) b. normal RDW c. Normal RBC increased d. Hb electrophoresis: -for Alpha-thalassemia minor: normal -for Beta-thalassemia minor: elevated Hb A2 e. Mentze Index (MCV/RBC) <13 f. Increased reticulocytes (compensatory bone marrow response) g. Peripheral smear: target + teardrop cells

CLINICAL PRESENTATION: 8 y/o F c/o with breast mass that is tender and on RT side. PE: tender, firm 2 cm mass posterior to RT nipple. Pubic hair is tanner stage 1. 1. What is the diagnosis? 2. What is the cause of puberty?

THELARCHE (Breast development): unilateral firm tender mass posterior to nipple. 2. Puberty caused by: pulsatile release of GnRH from hypothalamus --> stimulates anterior pituitary to release LH and FSH --> stimulate ovaries to make estradiol --> breast tissue development from 8-10 y/o PE: breast bud = enlargement of areola, elevation of papilla, firm retroareolar tender mass unilateral (asymmetric growth) -This is NOT fibrocystic changes = cyclic premenstrual tender breast tissue in Upper outer quadrant after menarche -This is NOT Juvenile fibroadenoma: firm mobile well circumscribed nontender mass in upper outer quadrant -This is NOT mammary duct ectasia = inflammation of subareolar milk ducts = nipple, discharge, erythema, nipple inversion

CLINICAL PRESENTATION: 6 y/o M c/o with neck lump noticed when he had cold symptoms. Nasal congestion and fever resolved. PE: 1.5 cm soft mildly tender mass in midline upper neck. Moves up and down when pt swallow. 1. What is the Dx? 2. What is it caused by? 3. What is it associated with?

THYROGLOSSAL DUCT CYST: secondary to URI 2. Cause: -normal: thyroid formed as outpouching from pharyngeal epithelium at base of tongue --> descends to base of anterior neck via thyroglossal duct --> if duct fails to atrophy = midline cystic mass forms -Swallowing or protrusion of tongue causes TDC to move superiorly 3. Associated with: ectopic thyroid tissue 4. Management confirm presence of normal thyroid tissue --> surgical resection of cyst (infection risk) -This is NOT Cervical Reactive Lymphadenopathy: enlarged neck mass post URI that is lateral and involved multiple nodes + doesnt move with swallowing -This is NOT Psuedocyst from obstruction of salivary gland: lateral _ would not move with swallowing -This is NOT suppurative sialadenitis (salivary gland infection): swollen tender neck mass that is firm, nonmbile with swallowing and not in midline -This is NOT nontuberculous mycobacterial lymphadenitis: enlarging lateral neck mass with purple discoloration of skin

CLINICAL PRESENTATION: 8 y/o F c/o with hair loss on scalp which is enlarging and is scratchy. Recently changed schools and anxious. Look at image. 1. What is the dx? 2. Epidemiology? 3. Symptoms? 4. Dx? 5. Treatment?

TINEA CAPITIS: dermatophyte infection due to Trichophyton tonsurans, Microsporum canis,Microsporum audouinii 2. Epidemiology: Kids, immunocompromised, or African American and transmission through fomites (shared combs) 3. Symptoms: broken hair (patchy alopecia with residual black dot), pruritus, occipital/postauricular lymphadenopathy 4. Dx: Clinical but can confirm with KOH of hair stubs 5. Treatment: griseofulvin or terinafine

CLINICAL PRESENTATION: 7 y/o M can't make friends, kept raising hand but just stretching. plays along, prefers to read books and do jigsaw puzzles. Family Hx: OCD in dad. PE: frequent head turning and shoulder shrugging. Seems remorseful and anxious. 1. What is the diagnosis? 2. Presentation?

TOURETTE SYNDROME: multiple motor (facial grimacing, blink, headneck jerk, shoulder shrug, tongue protrusion, sniff) or >1 vocal tics (grunt, snort, throat clearing, barking, yelling, obscenities) in kids <18 3. Management: a. Habit reversal training (behavioral therapy that increases tic awareness) b. Second gen antipsychotics (risperidone, aripiprazole): dopamine antagonists c. Dopamine depleters (tetrabenazine): vesicular monoamine transporter type 2 inhibitors d. Alpha adrenergic agonists (guanfacine, clonidine) -NOT methyphenidate (stimulant) for ADHD -NOT atomexitine (nonstimulant) for ADHD -not CBT for OCD -not Fluoxetine for childhood major depressive dosrder and OCD

CLINICAL PRESENTATION: 18 month old F c/o with decreased energy and anemia. Pt is admitted to hospital and given packed RBC. After 1 hour she has respiratory distress, tachycardiac, tachypnea. PE: Pulse ox is 89%. She is grunting with retractions. S3 gallop. Diffuse crackles b/l. 1. What is the dx? 2. Risk factors? 3. Presentation? 4. Management?

TRANSFUSION-ASSOCIATED CIRCULATORY OVERLOAD (TACO): when large volume of blood transfused --> fluid overload 2. Risk factors: a. Age <3 and >0 b. Underlying cardiac or renal problem c. Large volume or fast infusion rate 3. Presentation: within 6 hrs of transfusion --> respiratory distress,, HTN, tachycardiac, pulmonary edema (b/l crackles), heart failure (S3 gallop, JVD) 4. Management: respiratory support (supplemetal O2) + furosemide -This is NOT TRALI: hypotension + no S3 gallop or diffuse crackles

CLINICAL PRESENTATION: 8 y/o F c/o with lethargy, fever, cough and headache. This morning dad couldnt wake her up. Moved from Ecuador. PE: minimally responsive, papilledema, decreased breath sounds and crackles over RT middle lobe. CSF: Low glucose, high protein and high leukocytes 1. What is the dx? 2. Explain CSF 3. Presentation? 4. Treatment?

TUBERCULOUS MENINGITIS: rare complication of primary TB infection = abnormal lung exam + travel --> spread hematogenous to subarachnoid space 2. CSF: low glucose, high protein, high WBC with increased lymphocytic 3. Presentation: gradual nonspecific headache, fever, fatigue --> rapid lethargy, nuchal rigidity, focal neuro defects, seizures --> coma, herniation or death 4. Treatment: RIPE, glucocorticoids to reduce CNS swelling -NOT Aspergillus: brain abscess no meningitis -NOT Enterovirus: aseptic meningitis with increased lymphocytes in CSG but normal glucose -NOT Listeria monocytogenes: in neonates, elderly, pregnant women and predominantly lymphocytes -NOT Strep pneumonia: acute onset <7 days and predominance of neutrophils in CSF

CLINICAL PRESENTATION: 17 y.o M c/o unconscious after loud crash. PE: 2 cm contusion on forehead. Foot showed periungual fibroma. CT of head: look at it. 1. What is the Dx? 2. Pathophys? 3. Presentation? 4. What do you do for surveillance?

TUBEROUS SCLEROSIS: autosomal dominant mutation in TSC1 or TSC2 gene 3. Presentation: Hamartoma in skin/CNS (cortical glioneural hamartoma) Angiofibroma (acne on nose) Mitral regurg Ash-leaf Rhabdomyoma Tuberous sclerosis dOminant autosomal Mental disability Angiomyolipoma (renal tumor) Seizures (Subependymal nodule) Shagreen patches -Also had periungual fibroma (fibrous growths from nail fold) 4. Surveillance: -Tumor screening (skin + eye exam, brain + kidney MRI, echo, EKG) -EEG -Neuropsychiatric screening -This is NOT Ataxia-Telangiectasia: autosomal recessive disorder in childhood with unstable gait + uncoordinated eye movements + telangiectasia

CLINICAL PRESENTATION: 12 y/o M c/o with skin bruising, muscle aches, fatigue, nausea. PE: mucosal pallor and ecchymosis on b/l extremities. Labs: anemia, low platelets very high WBC (28.8K), low bicarb, high BUN, high creatinine. High lactate dehydrogenase, high uric acid. Peripheral blood smear: immature myeloid cells 1. What is the dx? 2. Explain labs. 3. Presentations? 4. Management?

TUMOR LYSIS SYNDROME from AML: cab happen from cytotoxic chemo or leukemia. 2. a. Hyperuricemia: from purine nucleic acids so xanthine oxidase becomes uric acid --> tubule obstructing uric acid stones --> AKI b. Hyperphosphatemia: causes Calcium Phosphate stones --> AKI + systemic hypocalcemia c. Hyperkalemia: can lead to cardiac arrhythmias 3. Presentation: Nausea, vomiting, myalgia, fatigue 4. Management: IV hydration, allopurinol, rasburicase + fix electrolytes

CLINICAL PRESENTATION: 8 Y/O M c/o with LT sided neck swelling which has gotten bigger, fever. PE: red, tender and fluctuant anterior cervical mass in LT anterior lymph node chain. I & D done, given antibiotics, and purulent fluid aspiration: anaerobic bacteria. 1. What is the diagnosis and presentation? 2. What is the organism? 3. What are risk factors? 4. What is the management? 5. What if it was b/l?

UNILATERAL CERVICAL LYMPHADENITIS: infection with enlarged, tender, warm, erythematous lymph node. 2/3-Usually due to gram + (S. aureus, S. pyogenes) in <5 -If anaerobic bacteria (oropharyngeal flora) esp in older kids with poor dental hygiene --> spread from oropharynx into surrounding tissues --> locally drain lymph nodes 4. If abscess --> I&D. Antibiotics need to cover gram + and anaerobic = Augmentin, clindamycin 5. If it was b/l --> viral = EBV, CMV for chronic and adenovirus of acute -NOT Diphtheria = from Corynebacterium diphtheriae --> cervical lymphadenopathy with sore throat w/ adherent posterior pharyngeal psuedomembrane -NOT Bartonella henselae (anaerobic gram -) transmitted by cat scratch or bite = lymphadenitis + papular lesion at site of injury -NOT Sporotrichosis: chronic infection from moss/soil exposure (gardening) with fungus sporothrix schenckii = nodular papules or ulcers at site of exposure + draining lymphatic chain -Azithromycin = treat cat scratch disease which has chronic lymphadenitis after cat bite or scratch. Also non Tb mycobacterial lymphadenitis

CLINICAL PRESENTATION: 4 month F c/o with fussiness, persistent fever (102.9), less interested feeding, vomited yesterday. Still makes wet diapers and urine has no foul odor or blood. PE: tired-appearing girl. 1. What is the dx? 2. Risk factors? 3. Presentation? 4. Next step?

UTI IN INFANTS: nonspecific fever in baby (no other source like otitis media or bronchiolitis) 2. Risk factors: a. F > M (or uncircumscribed male) b. Uro problems (vesicoureteral reflux) c. Bowel/bladder dysfunction (constipation) 3. Presentation: fever without source, fussiness, poor feeding 4. Next step: U/A and urine cx -Meningitis: febrile in <21 days, lethargy, bulging fontanelle

CLINICAL PRESENTATION: Mom gave birth to baby (complicated by preeclampsia) had fever and vesicular rash on face. On day of delivery, rash spread to chest and abdomen and became pruritic. Skin-to-skin contact b/w mom and baby was deferred. Dad had similar rash during childhood. 1. What does the mom have? 2. How is this transmitted? 3. How do you prevent this?

VARICELLA-ZOSTER VIRUS (VZV or chickenpox): leads to fever, vesicular eruption (chickenpox) and can have systemic involvement (pneumonia, hepatitis, meningoencephalitis) 2. Transmission: aerosolized droplets and contagious 3. Prevention: Post-exposure prophylaxis of people who are not immune -2 doses in pts who can get it with live VZV vaccine -can't get vaccine (neonates, preg women, IMC): varicella-zoster Ig (VZIG) esp if maternal infection developed 5 days before or 2 days after delivery = passive immunization

CLINICAL PRESENTATION: 4 month old M c/o with noisy breathing which worsen when he cries or eats. No improvement with bronchodilator or corticosteroid. Takes a long time to finish bottle. PE: biphasic stridor that is louder on exhalation, which improves with extension of neck but not improve with prone. 1. What is the dx? 2. Presentation? 3. How to dx? 4. Treatment?

VASCULAR RINGS: congenital malformation of aortic arch that encircle trachea/esophagus --> compression 2. Presentation: a. biphasic stridor that worsens with increased work of breathing (crying, feeding) b. Extend neck better (decreases tracheal compression) c. Vomiting, solid food dysphagia (esophageal compression) 3. Diagnose: CT --> direct laryngoscopy, bronchoscopy, echo 4. Treatment: surgery

CLINICAL PRESENTATION: 15 y/o F c/o for wellness visit. UDT with vaccine. Started vegan diet (unprocessed, locally produced foods, fruits, veggies, grains, legumes, nuts). a. What nutritional deficiencies could she have?

VEGAN DIET: missing out on: a. Vitamin D: from dairy + sun --> need to reduce risk of osteoporosis b. Vitamin B12 (Cobalamin): led to megaloblastic anemia + dorsal column problem c. Iron: in leafy greens, but not enough for growing kids or menstruating women Is getting enough essential amino acid

CLINICAL PRESENTATION: 5 y/o F c/o with chronic renal insufficiency. Had multiple UTIs and takes TMP-SMX daily for prophylaxis. Hx of poor growth and mild HTN. PE: mild b/l lower extremity edema. U/A: mild proteinuria but no WBC or bacteria. Renal scintigraphy with dimercaptosuccinic acid: b/l focal parenchymal scarring and blunted calyces. 1. What is the dx? 2. How to dx? 3. Complication?

VESICOURETERAL REFLUX: urinary reflux from bladder into kidney --> hydroureter _ hydronephrosis --> recurrent UTIs in babies + kids 2. To diagnose: contrast voiding cystourethrogram. Use renal U/S to screen for hydronephrosis. Also use renal scintigraphy with dimercaptosuccinic acid to evaluate for renal scarring (chronic pyelonephritis --> blunting of calices = calyceal clubbing + focal parenchymal scarring) 3. Complication: chronic renal insufficiency (HTN and anemia) -Posterior urethral valves only in boys -NOT ARPKD = pulm hypoplasia, Potter syndrome, flank mass

CLINICAL PRESENTATION: 18 month old M c/o with worsening chronic cough, fever. O2 sat = 96%. PE: mild tachypnea, intermittent suprasternal retractions. Scattered wheezing and crackles over b/l lung fields. Look at CXR. 1. What is the diagnosis? 2. Presentation? 3. Explain XRAY. 4. Management?

VIRAL BRONCHIOLITIS FROM RSV: lower resp tract infection in kids <2 yrs 2. Presentation: worsening cough, nasal congestion, increased work of breathing (tachypnea, retractions), diffuse wheezing/crackles. 3. CXR: increased interstitial markings, peribronchal cuffing (haziness around bronchial wall), maybe hyperinflation, atelectasis, no focal consolidation 4. Management: Supportive (nasal suctioning, hydration), followup. If premature or <2 months may need supplemental O2 or CPAP. -Fungal pneumonia = Aspergillus in IMC

CLINICAL PRESENTATION: 2 y/o M c/o with fever, respiratory distress. Had rhinorrhea and nasal congestion that resolved. PE: scattered, mobile lymph nodes in anterior cervical chain b/l. Tachycardia. S3 gallop, mitral regurg, tachypnea, nasal flaring, subcostal retractions. Scattered wheezes at lung bases. Hepatomegaly 1. What is the dx? 2. Underlying cause? 3. Workup?

VIRAL MYOCARDITIS: can be lethal any caused in kids by viral infection (Coxsackie B, adenovirus) --> myocyte necrosis --> impaired systolic and diastolic function -Have viral syndrome -Have chest pain + respiratory distress from acute LT heart failure + pulmonary edema -Dilated cardiomyopathy --> mitral regurg -Hepatomegaly from passive congestion from RT heart failure 3. Workup: EKG, CXR (cardiomegaly), Echo (global hypokinesis with decreased ejection fraction) -NOT rheumatic fever =myocarditis, fever, arthritis after untreated strep (no sore throat)

CLINICAL PRESENTATION: 3 y/o M c/o with dry eyes, photophobia, difficulty adapting to darkness, poor eater (canned foods). PE: dry, scaly skin, follicular hyperkeratosis in extensor, dry silver-gray plaques on bulbar conjunctiva) 1. What is the dx? 2. Presentation?

VITAMIN A DEFICIENCY: 2. Presentation: a. impaired adaptation to darkness b. photophobia c. dry scaly skin d. dry conjunctiva = xerosis conjunctiva e. dry cornea = xerosis cornea f. keratomalacia = wrinkled, cloudy cornea g. Bitot spots = dry silver-gray plaques on bulbar conjunctiva h. Follicular hyperkeratosis on shoulder, butt, extensor -This is NOT due to hypervitaminosis A: anorexia, pruritus, lack of weight gain, increased irritability, limited ROM, bone swelling, alopecia, seborrheic cutaneous lesion, mouth fissures, increased ICP, hepatomegaly

CLINICAL PRESENTATION: 3 y/o M from refugee camp c/o with rash, hunger, malnourished with minimal subcut fat, scaling and fissures at mouth corners, cracked and inflamed lips, swollen and hyperemia tongue and oropharyngeal mucus membranes, erythematous scaly patches on eyebrows/cheek/nose, rash on scrotal skin and extends to medial aspect of both thighs. Pales skin and conjunctiva and brittle finger and toenails. Labs: anemic, MCV = 82 (normocytic) 1. What is the deficiency? 2. What is the presentation?

VITAMIN B2 (RIBOFLAVIN): from no dairy. eggs, meat, green, vegetables. 2. Presentation: angular cheilosis (red swollen patches around mouth corners), stomatitis, glossitis, normocytic anemia, seborrheic dermatitis

CLINICAL PRESENTATION: newborn M has no iris in b/l eyes. PE: urethral opening at ventral side of penile shaft. LT testis not palpable but RT testis present. 1. What is the dx? 2. How do you manage these pts? 3. Prognosis?

WAGR SYNDROME/11q DELETION SYNDROME: deletion on 11q13 presenting with: Wilms Tumor Aniridia (no iris) GU abnormalities (hypospadias, cryptorchidism) Retardation (mental disability) 2. Screening: abodminal U/S every 3 months in infancy for early detection + treatment 3. Prognosis: ESRD

CLINICAL PRESENTATION: 1 y/o F c/o with fever and drowsiness. PE: hypothermic, lethargic, nuchal rigidity. When she flexes hips her neck flexes. Looks septic and has large petechial and purpuric lesion. She suddenly becomes hypotensive. Child dies. 1. What is the cause of death?

WATERHOUSE-FRIDERICHSEN SYNDROME: baby with meningococcemia --> adrenal hemorrhage --> sudden vasomotor collapse and large purpuric lesions --> DEATH

CLINICAL PRESENTATION: 3 y/o M c/o with red tinged urine but no dysuria. Last week treated with strep pharyngitis. PE firm, nontender palpable mass in LT abdomen. Labs: RBC 30, WBC 1, Blood 2+ 1. What is the dx? 2. What are 3 associations? 3. Presentation? 4. Next step? 5. Treatment

WILMS TUMOR (NEPHROBLASTOMA): most common renal malignancy in kids age 2-5 and affects 1 kidney. 2. 3 associations: a. WAGR b. Beckwith Wiedemann Syndrome c. Denys-Drash syndrome 3. Presentation: a. Asymptomatic b. Unilateral abdominal mass c. Hematuria d. May have HTN e. May have abdominal pain 4. Next step: CT abdomen + chest (pulm mets) 5. Treatment: surgery + chemo + radiation

CLINICAL PRESENTATION: 15 y/o M c/o with declining academic performance, moody, irritable, talking to wall, hearing voices. PE: diminished facial expressivity. Excess saliva. Increased tone in arms and mild tremor. Irritable affect and minimal eye contact. 1. What is the dx? 2. Presentation? 3. How to diagnose? 4. Treatment?

WILSON DISEASE: autosomal recessive mutation of ATP7B --> hepatic copper accumulation --> hepatocellular apoptosis --> release of free copper into blood --> deposited into CNS, kidney and cornea 2. Presentation: a. Psych (deposit into frontal cortex and limbic): depression, personality changes, psychosis b. Neuro (deposit into basal ganglia): parkinsonism (increased tone, excess saliva, soft voice diminished expressivity), tremor c. Hepatic (liver failure, chronic hepatitis, cirrhosis, jaundice) 3. Dx: decreased ceruloplasmin + increased urinary exretion + Kayser-Fleischer rings on slip lamp, increased Copper in liver biopsy 4. Treatment: a. Chelators (D-penicillamine, trientine) b. Zinc (interferes with Cu absorption) -This is not Hereditary hemochromatosis: autosomal recessive disorder with increased absorption of Fe --> fatigue, hepatic dysfunction BUT NO neuropsych

CLINICAL PRESENTATION: 18 month old M c/o with bloody stool. Hx of recurrent otitis media, herpes labialis, pneumonia. PE: Eczema on cheecks. Scattered petechiae on lower extremities. Labs: low platelets. Peripheral smear: low platelet count and small platelets. 1. What is the dx? 2. Presentation? 3. Treatment?

WISKOTT-ALDRICH SYNDROME: X linked recessive defectin WAS protein gene --> abnormal actin cytoskeleton in WBC --> impaired cell migration and immune synapse formation --> increased risk of bacterial, viral and fungal infection 2. Presentation: Wiskott Aldrich Thrombocytopenia Eczema Recurrent infection 3. Treatment: stem cell transplant

CLINICAL PRESENTATION: 3 y/o M c/o with fever, respiratory distress, stridor, drooling.. PMH of otitis media and pneumonia. Pt is UTD with vaccines. Emergency intubation done and inflammed epiglottis noted. Blood culture: H flu type B. Labs: deficient antibody titers to tetanus, diphtheria, H flu type B, pneumococcus. 1. Why does the kid not have titers to these organisms even though he is UTD with vaccines? 2.How do you diagnose? 3. Treatment?

X-LINKED AGAMMAGLOBULINEMIA: BTK gene mutation --> defective Bruton tyrosine kinase --> prevents pre-B cells from maturing and exiting bone marrow --> low plasma cells --> decreased antibody production --> recurrent sinopulmonary infections by encapsulated (S. pneumonia, H flu) 2. Diagnosis: deficient Ab response to vaccines + Flow cytometry of peripheral blood = shows reduced CD19 B cells --> Genetic Test 3. Treatment: Life-long Ig replacement

CLINICAL PRESENTATION: 5 month old boy c/o with fever, runny nose, coughing, Brother had URI last week. PE: crusted rhinorrhea at nares. Look at XRAY. 1. What the xray pointing to?

Xray is pointing to THYMUS because of sail sign. Normally visible in kids <3 yrs and important for lymphocyte production and maturation. If it was absent (thymic hypoplasia/aplasia) = DiGeorge Syndrome If it remains in adults --> malignant transformation --> thymoma in Myasthenia Gravis

MANAGEMENT: a. When do you start doing visual acuity test? b. When do you start doing Autism screening? c. When do you start doing depression screening d. When do you give meningococcal vaccination? e. When do you give rotavirus vaccine?

Preventative Health Measures: a. Visual Acuity test = 4 y/o b. Autism screen = 18 months and 2 yrs c. Depression screen = 12 y/o d. Meningococcal vaccine = 11/12 --> booster at 16 (college outbreaks); earlier if asplenic, HIV or complement deficiency e. Rotavirus: 2-8 months