Pediatrics Review – Emma Holliday Ramahi – Flashcards
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What does the APGAR tell you?
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General info about how the newborn tolerated labor (1min) and the newborn's response to resuscitation (5min)
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What does the APGAR not tell you?
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What to do next (does not guide therapy) How the baby will turn out (does NOT predict neurologic outcome)
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PE: When assessing Moro on an LGA newborn, the right arm remains extended and medially rotated.
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Erb-Duchenne C5-C6. (Klumpke is C7-C8 + T1) Refer if not better by 3- 6mo for neuroplasty
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PE: When palpating the clavicles on a LGA newborn, you feel crepitus and discontinuity on the left.
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Clavicular Fracture. Will form a callus in 1wk. No tx needed. Can use figure of 8 splint.
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"Edema. Crosses suture lines."
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Caput succedaneum
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"Fluctuance. Doesn't cross suture lines."
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Cephalohematoma
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Mongolian Spots
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Nevus Simplex (Salmon Patch)
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Milia
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Appears in up to half of newborns carried to term, usually between day 2-5 after birth. Resolves within first two weeks of life, and frequently individual lesions will appear and disappear within minutes or hours. It is a benign condition thought to cause no discomfort to the baby
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Erythema toxicum
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Strawberry Hemangioma
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Neonatal Acne
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"an area of alopecia with orange colored nodular skin" Remove before adolescence b/c it can undergo malignant degeneration.
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Nevus Sebaceous
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"thick, yellow/white oily scale on an inflammatory base". What to do? Gently clean w/ mild shampoo
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Seborrheic Dermatitis
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Two disorders screened for in every state because they are disastrous if not caught early (and happen to be a contraindication to breast feeding...)
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Phenylketonuria and Galactosemia.
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Galactosemia.
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Deficient G1p-uridyl- transferase. G1p accum to damage kidney, liver, brain. • Sxs = MR direct hyperbili ; jaundice, ?glc, cataracts, seizures. • Predisposed to E. coli sepsis. • No lactose por vida.
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Phenylketonuria.
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• Deficient Phe hydrolxalase. • Sxs = MR, vomiting, athetosis, seizures, developmental delay over 1st few mos • Signs = fair hair, eyes, skin, musty smell. • Low Phe diet.
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3 days old, bili @ 10, direct is 0.5. Eating ; pooping well.
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Physiologic Jaundice. Gone by 5th DOL. Liver conjugation not yet mature.
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7 days old, bili @ 12, direct is 0.5. dry mucous membranes, not gaining weight.
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Breast feeding Jaundice. ?feeding = dehydration = retain meconium ; re- absorb deconjugated bili.
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14 days old, bili @ 12, direct is 0.5. Baby regained birth weight, otherwise healthy.
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Breast milk Jaundice. Breast milk has glucuronidase and de-conj bili.
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1 day old, bili @ 14, direct is 0.5. Are you worried? Next best test? If positive? If negative?
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Pathologic Jaundice = on 1st DOL, bili ;12, d-bili ;2, rate of rise ;5/day. Test: Coombs Positive: Rh or ABO incompatability Negative: twin/twin or mom/fetus transfusion, IDM, spherocytosis, G6p-DH deficiency, etc.
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7 days old. Dark urine, pale stool. Bili @ 12, dbili is 8. LFTs also elevated.
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Biliary atresia. Bile ducts cannot drain bile. Causes liver failure. Need surgery.
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Other causes of direct hyperbilirubinemia?
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Always r/o sepsis! Galactosemia Hypothyroid Choledochal cyst CF Biliary atresia (;2mo)
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Random inherited causes of indirect hyperbili? (2)
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Gilbert - ?glucoronyl transferase level Crigler-Najjar (type1) - total deficiency
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Random inherited causes of direct hyperbili (2)
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Dubin-Johnson Sx - asx, black liver Rotor Sx - NO black liver
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Why do we care about hyperbilirubinemia?
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Indirect bili can cross BBB, deposit in basal ganglia and brainstem nuclei and cause *kernicterus*. (esp if bili is ;20)
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Treatment for hyperbilirubinemia
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Phototherapy (Tbil;20)--> ionizes the uncoj bili so it can be excreted. Double volume exchange transfusion (Tbil>25) if that doesn't work.
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Baby is born w/ respiratory distress, scaphoid abdomen ; this CXR. • Biggest concern? • Best treatment?
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Diaphragmatic hernia Concern: Pulmonary hypoplasia Txt: If dx prenatally, plan delivery at @ place w/ ECMO. Let lungs mature 3-4 days then do surg
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Baby is born w/ respiratory distress w/ excess drooling. Best Dx test? What else do you look for?
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TE- Fistula Dx: Place feeding tube, take xray, see it coiled in thorax Also look for: VACTER associated anomalies- vertebral, anal atresia, cardiac, radial and renal.
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1 week old baby becomes cyanotic when feeding but pinks up when crying. • What else do you look for?
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Choanal Atresia Also look for: CHARGE associated anomalies- coloboma, heart defects, retarded growth, GU anomalies , Ear anomalies and deafness
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32 wk premie has dyspnea, RR of 80 w/ nasal flaring. - Prenatal Dx? - Pathophys? - Txt?
;img src=;https://chmanchacentro.com/wp-content/uploads/2018/04/rdsprenatal-dx-l-s.jpg; title=;RDS Prenatal Dx: L/S;2, give antenatal betamethasone Pathophys: Surfactant def, can't keep alveoli open. Txt: O2 therapy with nasal CPAP to keep alveoli open; alt=;RDS Prenatal Dx: L/S
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RDS Prenatal Dx: L/S;2, give antenatal betamethasone Pathophys: Surfactant def, can't keep alveoli open. Txt: O2 therapy with nasal CPAP to keep alveoli open
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38 wk LGA infant born by C/S to an A2GDM has dyspnea/grunting - Pathophys? - Prognosis?
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TTN Pathophys: Lung fluid not squeezed out, retained Prognosis: Usually minimal O2 needed. Self resolves in hrs to days
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41 wk AGA infant was born after ROM yielded greenish- brown fluid. *Next best step? *Complications?
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Meconium Aspiration Syndrome Next: intubate and suction before stimulation Complications: Pulmonary artery HTN, pneumonitis
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Defect lateral (usually R) of midline, no sac - Assoc w/ other d/o? - Complications?
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Gastroschisis will see high maternal AFP Not usually associated w/ other d/o Complications: May be atretic or necrotic req removal. Short gut syndrome
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Defect in the midline. Covered by sac. - Assoc w/ other disorders?
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Omphalocele Assoc w/ Edwards ; Patau Trisomies, Beckwith Wiedemann Syndrome = big baby w/ big tongue, ?glc, ear pits
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Defect in the midline. No bowel present. - Assoc w/ other d/o? - Txt?
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Umbilical hernia Assoc w/ congenital hypothyroidism. (also big tongue) Repair not needed unless persists past age 2 or 3yo
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4wk old infant w/ non- bileous vomiting and palpable "olive" - Metabolic complications? - Txt?
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Pyloric stenosis Complications: hypochloremic metabolic alkalosis Txt: immediate surgery referral for myotomy
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2wk old infant w/ bileous vomiting. The pregnancy was complicated by poly- hydramnios. - Assoc w/?
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Intestinal Atresia (Or Annular Pancreas) Assoc w/ Down Syndrome (esp duodenal)
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1 wk old baby w/ bileous vomiting, draws up his legs, has abd distension. - Pathophys?
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Malrotation and volvulus *Ladd's bands can kink the duodenum Gut fails to rotate 270* counterclockwise around SMA
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A 3 day old newborn has still not passed meconium. - DDX? (name 2)
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Meconium ileus- consider CF if +FH *gastrograffin enema is dx & tx Hirschsprung's- DRE --> exposion of poo. bx showing no ganglia is gold standard
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A 5 day old former 33 weeker develops bloody diarrhea - What do you see on xray? - Treatment? - Risk factors?
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Necrotizing enterocolitis - What do you see on X-ray? pneumocystis intestinal (air in bowel wall) - Treatment? NPO, TPN (if nec), antibiotics and resection of necrotic bowel - Risk factors? Premature gut, introduction of feeds, formula.
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A 2mo old baby has colicky abd pain and current jelly stool w/ a sausage shapend mass in the RUQ.
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Intussusception *Barium enema is dx and tx
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Newborn male with no palpable testes. - Where are they usually? - Next best test? - When to do surgery?
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Cryptorchidism Assoc w/ prune belly syndrome - Where are they usually? Inguinal canal - Next best test? US if not palpable - When to do surgery? If not descended by 1yr to avoid sterility/cancer
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Newborn male with urethral opening on the ventral surface. - What do you NOT do?
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Hypospadias DON'T circumcise! Foreskin is used in eventual repair
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Newborn child with ambiguous genitalia. One month later has vomiting & ?Na ?K and acidosis. - Most common Cause? - Definitive test? - Tx?
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Congenital Adrenal Hyperplasia - Most common Cause? 21 Hydroxylase deficiency. (autosomal recessive) - Definitive test? 17-OH progesterone before and after ACTH bolus - Tx? Hydrocortisone and fludrocortisone (? doses in times of stress)
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Mothers with pre-existing diabetes (esp type 1) - Prenatal care? - Risks to fetus?
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- Prenatal care? Control glc in the 1st trimester & take 4mg folate/day - Risks to fetus? Placental insufficiency/IUGR, Congenital heart dz, NTD, Caudal regression syndrome, Small left colon syndrome
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Risks of infants born to mothers with gestational diabetes
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- LGA. ?risk of birth trauma (clavicle, Erbs), C/S & TTN - Hypoglycemia. Why? Maternal hyperglycemia --> fetal hyperinsulinemia. Complications? Neonatal seizure (always check glc!). Treatment? Feed frequently if <40. IV dextrose if ?EPO. Complications? Renal or splenic vein thromboses - Jaundice. More RBCs to bread down. Risk for kernicterus - RDS. ?insulin interferes w/ cortisol surge prior to birth that normally stimulates lung maturation. Check L/S ratio >2
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baby 100.4
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Sepsis until proven otherwise
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Sepsis workup in neonate
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CBC w/ diff, CXR, blood cultures, urine cultures (use catheter), LP
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Risk factors for neonatal sepsis?
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Prematurity, chorioamnionitis, intrapartum fever, maternal leukocytosis, prolonged rupture of membranes (>18hrs), GBS+ mom.
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Most common neonatal sepsis bugs?
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Group B Strep E. Coli Lysteria monocytogenes
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Empiric txt for neonatal sepsis?
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Ampicillin + Gentamicin until 48hr cx are negative Cefotaxime + Ampicillin if meningitis suspected
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Maculopapular rash on palms and soles, snuffles, periostitis. Txt?
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Syphilis Tx w/ PCN
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Hydrocephalus, intracranial calcifications and chorioretinitis. Txt?
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Toxoplasmosis Tx w/ sulfadiazine + leucovorin.
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Cataracts, deafness and heart defects (esp PDA, VSD), extramedullary hematopoeisis. Txt?
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Rubella No tx.
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Microcephaly, periventricular calcifications, deafness, thrombo- cytopenia and petechiae. Txt?
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CMV Tx w/ ganciclovir, but won't prevent MR
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Limb hypoplasia, cutaneous scars, cataracts, chorioretinits, cortical atrophy. Txt?
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Congenital Varicella if mom infected 1st or 2nd trimester. If mom is exposed 5 days before - 2 days after delivery, baby gets VZIG.
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Neonatal conjunctivitis: DOL 1-3, red conjunctiva and tearing.
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Chemical conjunctivitis caused by silver nitrate drops. Not common anymore b/c we use erythromycin.
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Neonatal conjunctivitis: DOL 3-5, bilateral purulent conjunctivitis can cause corneal ulceration.
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Gonococcal conjunctivitis tx w/ topical erythromycin and IV 3rd gen ceph.
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Neonatal conjunctivitis: DOL 7-14, red conjunctiva w/ mucoid discharge ; lid swelling
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Chlamydia conjunctivitis tx w/ oral erythromycin. Complication is chlamydial pneumonia --> cough, nasal drainage, scattered crackles + bilat infiltrates on CXR
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A newborn baby has decreased tone, oblique palpebral fissures, a simian crease, big tongue, white spots on his iris - What can you tell his mother about his expected IQ?
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Down's Syndrome He will likely have moderate MR. Speech, gross and fine motor skill delay
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Common medical complications of Down's Syndrome?
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- Heart? VSD, endocardial cushion defects - GI? Hirschsprung's, intestinal atresia, imperforate anus, annular pancreas - Endocrine? Hypothyroidism - Msk? Atlanto-axial instability - Neuro? Increased risk of Alzheimer's by 30-35. (APP is on Chr21) - Cancer? 10x increased risk of ALL
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Omphalocele, rocker-bottom feet/ hammer toe, microcephaly and clenched hand, multiple others.
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Edward's syndrome (Trisomy 18)
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Holoprosencephaly, severe mental retardation and microcephaly, cleft lip/palate, multiple others.
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Patau's syndrome (Trisomy 13)
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14 year old girl with no breast development, short stature and high FSH. Txt?
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Turner's syndrome. XO. Most common genotype of aborted fetuses Txt? Estrogen replacement for secondary sex char, and avoid osteoporosis
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Anomalies assoc w/ Turner's syndrome?
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Horseshoe kidney, coarctation of aorta, bicuspid aortic valve
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18 year old tall, lanky boy with mild MR has gynecomastia and hypogonadism.
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Klinefelter's syndrome *increased risk for gonadal malignancy
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Café-au-lait spots, seizures, large head. Autosomal dominant
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Neurofibromatosis
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Mandibular hypoplasia, glossoptosis, cleft soft palate. W/ FAS or Edwards.
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Pierre Robin Sequence
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Broad, square face, short stature, self- injurious behavior.
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Smith Magenis Syndrome Deletion on Chr17
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Hypotonia, hypogonadism, hyperphagia, skin picking, agression.
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Prader-Willi Syndrome Deletion on paternal Chr15
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Seizures, strabismus, sociable w/ episodic laughter.
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Angelman Syndrome Deletion on maternal Chr15.
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Elfin-appearance, friendly, increased empathy and verbal reasoning ability.
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Williams Syndrome Deletion on Chr7.
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IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive.
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Cornelia de Lange
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Microcephaly, smooth philtrum, thin upper lip, ADHD-like behavior. Most common cause of mental retardation.
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Fetal Alcohol Syndrome
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Most common type of MR in boys, Macrocephaly, macro- orchidism, large ears.
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Fragile X Syndrome CGG repeats on the X-chr w/ anticipation.
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Autosomal dominant, or assoc w/ advanced paternal age. Short palpebral fissures, white forelock and deafness.
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Waardenburg Syndrome
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2 y/o M w/ multiple ear infxns, diarrheal episodes & pneumonias. No tonsils seen on exam. - Labs?
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Bruton agammaglobulinemia - x-linked - infx start @ 6-9mo - Absence of B cells on flow cytometry - low levels of all Igs
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17 y/o F with decreased levels of IgG, IgM, IgE, and IgA but normal numbers of B cells.
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Combined variable immune deficiency. (acquired)
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Complication of Combined variable immune deficiency?
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Increased lymphoid tissue--> increased risk for lymphoma
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Most common B-cell defect. Recurrent URIs, diarrhea.
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Selective IgA deficiency
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Complication of Selective IgA deficiency?
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Anaphylaxis reaction if given blood containing IgA
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3wk old M with seizure, truncus arteriosus, micrognathia.
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DiGeorge Syndrome
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Genetic defect of DiGeorge Syndrome?
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Microdeletion on Chr22
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Types of childhood infections in DiGeorge Sx?
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Candida viruses PCP pneumonia
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Infant w/ severe infxns, no thymus or tonsils. Severe lymphopenia.
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SCID. See infxns w/ bacterial, viral and opportunistic bugs.
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SCID inheritance? Txt?
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Most common inheritence is XLR. AR is ADA deficiency. Pediatric emergency! Need bone marrow transplant by age 1 or death.
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3 y/o M child w/ recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses.
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Chronic granulomatous disease XLR. PMNs can ingest but not kill catalase + bugs.
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How to dx CGD?
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Nitrotetrazolium blue (yellow means they have the dz). New test is Flow cytometry w/ DHR-123
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18mo M baby w/ severe ezcema, petechiae, and recurrent ear infxns.
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Wisckott-Aldrich Syndrome. Often present w/ prolonged bleeding after circumcision. Low IgM, high IgA and IgE, slightly low IgG.
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Newborns lose 10% of birth weight in 1st week. Why? Should regain BW by? Should double weight by? Should triple weight by?
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Diuresis of extravascular fluid • Should regain birth weight by? 2wk • Should double weight by? 6mo • Should triple weight by? 1yr
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Newborns increase 50% of length by? Double length by?
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increases 50% by 1 year doubles by 5 years
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Contraindications to breastfeeding.
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Galactosemia, PKU, HIV, HSV on the breast, chemo, Li, Iodide, alcohol.
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Nutritional characteristics of Breast milk vs. Formula
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Breast milk is - whey dominant - more lactose - more LCFA - less Fe but its better absorbed
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14 y/o boy, always been below 5% in height. Parents are tall & were "late bloomers". Bone age < Real age.
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Constitutional Growth Delay Child is likely to have normal final adult height.
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14 y/o boy, always been below 5% in height. Father is 5'2" and mom is 4'10" Bone age = Real age.
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Familial Short Stature
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14 y/o boy, 50% in height, 97% for weight.
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Obesity Bone age ; Real age.
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Bone age ; Real age.
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Obesity Precocious puberty CAH Hyperthyroidism
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14 y/o boy, starts out in 50% for height, in the past 2 years is now between the 5%-10%. Other risks to consider?
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Pathologic Short Stature Craniopharyngioma (vision problems, chect CT) Hypothyroidism (check TFTs) Hypopituitarism (check IgF1) Turners (check karyotype).
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Primitive Reflex: When head is extended, arms and legs both flex.
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Moro Reflex From birth - 4/6mo
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Primitive Reflex: When you place your finger in palm, flexes hand.
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Grasp From birth - 4/6mo
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Primitive Reflex: Rub cheek, head turns to that side
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Rooting. From birth - 4/6mo
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Primitive Reflex: When stimulate dorsum of foot, steps up.
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Placing. From birth - 4/6mo
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Primitive Reflex: When neck is turned to one side, opposite arm flexes and ipsilateral arm extends
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Tonic neck. From birth - 4/6mo
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Primitive Reflex: When a fall is simulated, arms are extended.
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Parachute. From 6-8mo - por vida
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CNS origin of primitive reflexes?
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Brainstem and vestibular nuclei
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Milestones: Roll over?
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6mo. Also, sits w/ support, creep/crawl, stranger anxiety.
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Milestones: Skips ; copies a triangle?
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60mo. Also draws a person w/ 8-10 parts.
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Milestones: Walk alone?
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15mo. Also, builds 3 cube tower and scribbles w/ crayon.
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Milestone: Walk upstairs w/ alternating feet?
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30mo. Also, stands on 1 foot, knows name, refers to self as "I"
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Milestones: Copy cross and square?
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48mo. Also, hops on 1 foot, throws ball overhead, group play and goes to toilet alone.
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Milestones: Sit unsupported + Pincer grasp?
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9mo. Also, walks w/ hand held, object permanence, peak-a-boo ; bye-bye
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Milestones: walks downstairs, copies a circle, con jump w/ both feet?
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36mo. Also, knows age and sex. Understands taking turns. Counts to 3.
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Milestones: 1?2 of speech is comprehensible ; 2-3word sentences?
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24mo. Also, runs well, builds 7 cube tower, holds spoon, helps undress.
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Milestones: Social smile, start to coo?
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2mo. Also, sustains head in plane of body, follows an object 180deg, some vowel sounds
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Urinary continence should be attained by?
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5yo
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Enuresis: medical causes to r/o?
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UTI (do a UA) Constipation (disimpact) Diabetes (check sugar)
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Txt of enuresis
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Primary if continence never achieved, Secondary if after a 6mo period of dryness. *1st* - behavioral- reward system, pee before bed, bell- alarm pad. *2nd* - pharmacological- DDAVP or imipramine
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Fecal continence should be attained by?
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4yo
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Most common cause of fecal incontinence?
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constipation, fecal retention Txt: Disimpact, stool softeners, high fiber diet Behavioral modification: post-prandial toilet sitting
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Immunizations: birth
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HepB (remember to give HepBIV if mom is HbsAg +)
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Immunizations: 2mo, 4mo, 6mo
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HepB (3) Rotavirus (2-3) Dtap (3) HiB (2-4) PCV (4) IPV (4) +flu (starting at 6mo)
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Contraindications to flu shot?
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Egg allergy, also CI for yellow fever vac
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Immunizations: 12mo
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MMR Varicella HepA (live vaccines not for kiddos;12mo) Also maybe: 3rd HBV 3rd Hib 4th PVC13 3rd IPV + flu
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Contraindications to MMR
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Neomycin or streptomycin allergy
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Immunizations: before 2yo
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4 of 5 DTaP 3 of 4 IPV 1 of 2 MMR 1 of 3 Varicella +flu Completed: 3 HepB 2-3 Rotavirus 3-4 Hib 4 PVC13 2 HepA (6mo after the 1st one)
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Immunizations: before kindergarten
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Last of: IPV (4) Dtap (5) MMR (2) Varicella (2) +flu
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Immunizations: 12yo
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1st Tdap booster 1st meningococcal vaccine 1st HPV
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SYSTOLIC, ;II/VI, soft, vibratory and musical, heard best @ lower mid-sternum
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Stills murmur - benign
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best heard in anterior neck, disappears when jugular vein is compressed.
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Venous hum - benign
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Characteristics of abnormal heart murmurs
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- Anything DIASTOLIC. - Anything ;II/VI -; Get an echo
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Newborn is cyanotic @ birth, O2 does not improve
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Transposition of great arteries
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Transposition of great arteries: - Common in? - Murmur? - Txt?
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- Most common in infants of DM mom - Associated murmur: NONE! (unless PDA or VSD) - Immediate tx: PGE1 to keep PDA patent
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2yo who gets cyanotic and hypernea while playing, squats down
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Tetralogy of Fallot
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Tetralogy of Fallot: - tetralogy? - Murmur? - Txt?
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+ Pulmonary stenosis + RA hypertrophy + Over riding aorta + VSD - Murmur: Harsh SEM + single S2 - Txt: O2 and knee-chest position, surgical correction
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Bipolar woman gives birth to a child w/ holosystolic murmur worse on inspiration.
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Ebstein Anomaly Tricuspid insuficciency 2/2 TV displacement into RV.
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Arrhythmia associated w/ Ebstein Anomaly?
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Wolff-Parkinson-White
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Cyanosis @ birth with holosystolic murmur, depends on VSD or ASD for life. EKG shows LVH. Txt?
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Tricuspid atresia. Give PGE1 until surgery
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Heart defect associated with DiGeorge syndrome. CXR shows ?pulm blood flow and bi-ventricular hypertrophy. Txt?
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Truncus arteriosis. Eisenmenger develops early. Do surg in 1st few weeks of life
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#1 congenital heart lesion. Harsh holosystolic murmur over LL sternal border, loud P2.
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Ventriculoseptal defect Most close by 1-2yr
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VSD: When is surgery indicated? Is louder better or worse?
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FTT, 6-12mo w/ pHTN, ;2yrs w/ Qp/Qs ;2:1 Louder is Better. It means the defect is small. Most often membranous. More likely to spontaneously close.
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Loud S1 w/ fixed and split S2. Older child w/ exercise intolerance.
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ASD
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Most common defect in Down Syndrome baby. Fixed ; split S2 + SEM w/ diastolic rumble. Txt?
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Endocardial Cushion Defect @ risk for early Eisenmengers. Surgery before pHTN @ 6-12mo.
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Continuous machine-like murmur w/ bounding pulses and wide pulse pressure.
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PDA
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PDA: Associations?
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Prematurity, congenital rubella syndrome
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PDA: Txt?
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If not closed by 1wk, give indomethacin or surgically close
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Most common defect in Turner's baby. Decreased femoral pulses, "reverse 3 sign", "notching" @ inf rib border 2/2 incr collateral. May see asymmetry in arm BPs
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Coarctation of the Aorta
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15 year old athlete complains of occasional palpations angina and dizziness. Last week he fainted during the 1st inning of his baseball game. - Murmur? - Txt?
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HOCM - Murmur: SEM, better w/ ? preload (squat, handgrip) louder w/ valsalva, standing, exercise (?preload) - Treatment of this child: Beta blockers or CCB (no diuretics or dig- why?). Alcohol ablation or surgical myotomy - No sports or heavy exercise!
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7 year old girl presents with vague chest pain, pain in several different joints over the past few days, and a rash. Her ESR is elevated, and her EKG shows prolongation of the PR interval. - Txt? - Complications?
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Acute Rheumatic Fever - Treatment: Oral PCN (erythromycin) for 10 days, then prophylactic till 20 - Complications: Mitral stenosis, (then aortic or tricuspid involvment)
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In early childhood, suspect it when: failure to thrive (<5th % weight & height), foul-smelling, bulky, floating stools, recurrent respiratory infections and nasal polyps.
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Cystic Fibrosis AR, mutation on Chr7, CFTR protein.
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CF signs at birth?
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Meconium ileus = dilated loops, "ground glass", dx/tx with gastrograffin enema Can also see rectal prolapse from chronic diarrhea.
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CF: Dx? Txt?
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Diagnosis? Sweat test--> >60mEq/L chloride is diagnostic Treatment? - For thick resp. secretions? DNAse (mucolytic), albuterol/saline nebs - For pneumonia? Most often pseudomonas or colonized w/ b. cepacia Tx w/ piperacillin + tobramycin or ceftazidime - For pancreatic insuff? Enzy replacement w/ meals + ADEK supplement - For electrolyte loss through skin? Adequate fluid replacement when exercising or when hot.
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Asthma txt: If pt has sxs twice a week and PFTs are normal?
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Albuterol only
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Asthma Txt: If pt has sxs 4x a week, night cough 2x a month and PFTs are normal?
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Albuterol + ICS
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Asthma Txt: If pt has sxs daily, night cough 2x a week and FEV1 is 60-80%?
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Albuterol + inhaled CS + long-acting beta-ag (salmeterol)
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Asthma Txt: If pt has sxs daily, night cough 4x a week and FEV1 is <60%?
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Albuterol + inhaled CS + salmeterol + montelukast and oral steroids
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Mgmt of asthma exacerbation?
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txt w/ inhaled albuterol and PO/IV steroids. Watch peak flow rates and blood gas. PCO2 should be low. Normalizing PCO2 means impending respiratory failure --> INTUBATE.
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Asthma complications
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Allergic Brochopulmonary Aspergillus
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A 12 y/o girl presents with a 2 day history of vomiting. For the last 4 weeks, she noticed weight loss, polyphagia, polydipsia and polyuria. Na = 130, Cl = 90, HCO3 = 15, glucose = 436. Dx? Pathophys? Next step? Long term txt?
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Diabetes • Next best step? Start insulin drip + IVF. Monitor BGL and anion gap. Start K. Bridge w/ glargine once tolerating PO. • Pathophys? T-cell mediated destruction of islet cells, insulin autoAb, glutamic acid decarboxylase autoAb • Long term treatment? Will need insulin tx.
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Diagnostic criteria for DM?
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Fasting glc >125 (twice) 2hr OGTT (75g) > 200 Any glc > 200 + symptoms
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Dysmorphic RBCs or RBC casts in UA?
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glomerular source
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Definition of nephritic syndrome?
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Proteinuria (but <2g/24hrs) hematuria edema azotemia
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Hematuria 1-2 days after runny nose, sore throat & cough?
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Berger's Dz (IgA nephropathy). Most common cause.
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Hematuria 1-2 weeks after sore throat or skin infxn?
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Post-strep GN- smoky/cola urine, best 1st test is ASO titer. Subepithelial IgG humps
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Hematuria + Hemoptysis?
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Goodpasture's Syndrome. Abs to collagen IV
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Hematuria + Deafness?
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Alport Syndrome. XLR mutation in collagen IV
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Best test for kidney stones?
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CT
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Nephrolithaisis: Most common type?
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Calcium oxalate Txt w/ HCTZ
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Nephrolithiasis: Kid w/ family hx of stones. Type?
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Cysteine. Can't resorb certain AA.
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Nephrolithiasis: Chronic indwelling foley and alkaline pee?
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Mg/Al/PO4 = struvite Proteus, Staph, Pseudomonas, Klebsiella
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Nephrolithiasis: If leukemia being treated w/ chemo?
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Uric Acid Txt by alkalinizing urine + hydration
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Nephrolithiasis: s/p bowel resection for volvulus
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Pure oxalate stone. Ca not reabsorbed by gut (pooped out)
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Nephrolithiasis Treatment? - Stones 2cm? - Stones 5mm-2cm?
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- Stones Will pass spontaneously. Just hydrate - Stones ;2cm --> Open or endoscopic surgical removal - Stones 5mm-2cm --> Extracorporal shock wave lithotropsy
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Best initial test for proteinuria
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Repeat test in 2 weeks, then quantify w/ 24hr urine
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Definition of nephrotic syndrome?
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;3.5g protein/24hrs hypoalbuminemia edema hyperlipidemia (fatty/waxy casts)
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Most common cause of nephrotic sx in kids? Txt? Complications?
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Minimal change dz - fusion of foot processes - Treat with prednisone for 4-6wks. - Most common complication is infection- Make sure immunized against pneumococcus and varicella.
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nephrotic patient suddenly develops flank pain?
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Suspect renal vein thrombosis! 2/2 peeing out ATIII, protein C and S. Do CT or U/S stat!
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Swollen, painful hands and feet.
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Dactylitis. 2/2 necrosis of small bones
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Excruciating pain in the extremities, ulcers, hip pain.
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Pain crises. Ischemic damage 2/2 sickling
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Point tenderness on femur, fever, and malaise.
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Osteomyelitis. Most common bug is Salmonella
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?retics, nl MCV sickles, targets, HJ bodies
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Sickle cell blood smear
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Acute drop in HCT with ??retics?
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Aplastic crisis. Parvo B19
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Recurrent RUQ pain after meals.
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Pigment gallstones. Do Chole.
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Respiratory distress ; emergent tonsilectomy?
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Waldyer Ring hyperplasia.
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An African American (or Mediterranean) kid w/ sickle cell disease comes in...Proteinuria and increased creatinine + recurrent UTIs?
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Kidney infarcts due to sickled RBCs
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Most common cause of sepsis in sickle cell pts?
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Strep Pneumo
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Sickle cell pt presents w/ fever, cough, chest pain, chills, and SOB? Txt?
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Acute Chest syndrome. Pulmonary infarction. Most common cause of death. Txt: O2, Abx, exchange transfusion
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Sickle cell pt p/w acute confusion and focal neurologic deficits? Txt?
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Stroke Txt: Exchange transfusion (NOT tPA!) Assessing risk? Transcranial doppler (v ;200cm/sec), keep HbS ;30%
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Sickle cell Vax and ppx?
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*23-valent pneumococcal vaccine* @2yo H. flu *N. meningitides* +PCN prophylaxis from 2mo-6yo
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If sickle cell pt p/w fatigue and megaloblastic anemia? Txt?
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Most likely folate deficiency (higher need 2/2 ?retics) Txt: Hydroxyurea increases production of HbF. Treat infx aggressively and manage pain. Bone marrow transplant cures, but has 10% post op mortality
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Normal instances of childhood anemia?
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Physiologic drop in H;H 2-3mo Transient Erythroblastopenia 3mo-6yo - immune suppression after viral infection (not B19)
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18 mo kiddo, picky eater, drinks lots of cow's milk. ?H&H, MCV 75, ?ferritin, ?TIBC
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Fe-deficiency. Tx w/ oral ferrous salts.
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18 mo kiddo, eats a varied diet. Mom is Italian. ?H&H, MCV 60, ?RDW
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Thalassemia. Varying degrees. Tx w/ transfusion & deferoxamine. Can see expanded medullary space
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8 mo kiddo is irritable, has glossitis & FTT. Picky eater, drinks lots of goat's milk.
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Folate-deficiency. See low serum (RBC) folate. Tx w/ daily folate.
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4mo pale baby, normal plts and WBCs but hemaglobin is 4. Increased RBC ADA and low retics. Triphalangeal thumbs. Txt?
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Blackfan-Diamond Anemia Txt: Corticosteroids, transfusions, stem cell transplant.
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18mo baby presents w/ low plts, low WBCs, and profound anemia. He has café-au-lait spots, microcephaly, and absent thumbs. Dx? Txt?
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Fanconi Anemia - Dx? Bone marrow shows hypoplasia, Cytogenetic studies for chr breaks - Tx? Corticosteroids, androgens, bone marrow transplant.
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Complications assoc w/ Fanconi Anemia
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Increased risk for AML and other cancers.
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2 y/o baby presents w/ hyperactivity, impaired growth, abdominal pain and constipation. Dx?
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Lead poisoning Dx: venous blood sample, check lead level
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Txt for lead poisoning
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Check venous blood level ;45 Txt w/ Succimer ;70 admit and txt w/ EDTA + Dimercaprol
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Lead poisoning screening?
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Test blood lead levels btw 12-24mo if low SES or lives in an old house (;1960)
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15 y/o F recurrent epistaxis, heavy menses ; petechiae. ?plts only. Txt?
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ITP Tx w/ IVIG for 1-2 days, then prednisone, then splenectomy. NO plts!!
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15 y/o F recurrent epistaxis, heavy menses, petechiae, normal plts, ? bleeding time and PTT. Txt?
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VWD DDAVP for bleeding or pre-op. Replace factor VIII (contains vWF) if bleeding continues.
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7 y/o M recurrent bruising, hematuria, ; hemarthroses, ? PTT that corrected w/ mixing studies* Txt?
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Hemophilia If mild, tx w/ DDAVP, otherwise replace factors.
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1wk old newborn, born at home, comes in with bleeding from the umbilical stump ; bleeding diathesis. Txt?
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VitK def ? II, VII, IX and X (Same as CF kid with malabsorbtion) Txt: FFP acutely + vitK shot
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9 y/o F with Wilson's disease developed fulminant liver disease. 1st factor depleted? 2 factors not depleted?
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1st: VII, so PT increases 1st Not: VIII and vWF b/c they are made by endothelial cells.
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A 3 y/o child is brought in with petechiae, abdominal pain, vomiting and lethargy. He had bloody diarrhea 5 days ago after eating hamburgers at a family picnic. Labs reveal thrombocytopenia and ?creatinine
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Hemolytic Uremic Syndrome
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Most common cause of HUS?
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*E. Coli O157H7* Shigella Salmonella Campylobacter
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Txt for HUS?
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NO platelets! Tx w/ aggressive nutrition (TPN) and early peritoneal dialysis. Don't give abx for bloody diarrhea. Can ? risk of HUS
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A 5 y/o child is brought in with purpura on his legs and buttocks, abdominal pain, joint pain, current jelly stool. His smear appears normal, as are his coagulation studies and electrolytes. IgA and C3 are deposited in the skin.
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Henoch Schonlein Purpura Most common cause? Usually follows URI Treatment? Symptomatic treatment. Can use steroids for GI or renal dx.
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New onset seizure, ataxia and HA worse in the AM with vomiting for a month.
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Brain tumor. Most likely infratentorial
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Most common childhood brain tumor?
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Pilocytic astrocytoma of cerebellum. Resect:~90% survive
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2nd most common childhood brain tumor?
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Medulloblastoma. Vermis, obstruct 4th V
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Adolescent with height in 5th %, w/ bitemporal hemianopsia. See calcifications in sella turcica.
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Craniopharyngioma Suprasellar A remnant of Rathke's pouch.
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2 year old hypertensive child with asymptomatic abdominal mass. Workup? Associations? Txt?
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Wilm's tumor Best test: Abdominal CT. Do CXR to check lung involvement Assoc w/ Aniridia, GU anoms, Hemihypertrophy, Beckwith-Weidemann Txt: Surgery, chemo, rads
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4 year old with jerking movements of eyes and legs, bluish skin nodules and a tender abdominal mass Diagnostic tests?
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Neuroblastoma ?urine homovanillic or vanillylmandelic acid.
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;30% lymphoblasts Txt: VDP + CNS tx w/ intrathecal methotrexate Poor prognostic factors: 10, ;100K WBC" alt="ALL Best test: Bone marrow biopsy--> >30% lymphoblasts Txt: VDP + CNS tx w/ intrathecal methotrexate Poor prognostic factors: 10, >100K WBC">
3 year old girl w/ a limp ; left leg pain, T99.9, HSM, petechiae, ; pallor. Cells are CALLA and TdT +. Best test? Txt? Prognosis?
;30% lymphoblasts Txt: VDP + CNS tx w/ intrathecal methotrexate Poor prognostic factors: 10, ;100K WBC" alt="ALL Best test: Bone marrow biopsy--> >30% lymphoblasts Txt: VDP + CNS tx w/ intrathecal methotrexate Poor prognostic factors: 10, >100K WBC">answer
ALL Best test: Bone marrow biopsy--> >30% lymphoblasts Txt: VDP + CNS tx w/ intrathecal methotrexate Poor prognostic factors: 10, >100K WBC
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14 y/o boy w/ enlarged, painless, rubbery nodes, drenching fevers, and 10% weight loss. Best test? Txt?
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Hodgkin Lymphoma Best test: excisional bx, and then staging CT or laparoscopy to determine txt Txt: chemo + rads, 90% cure if stage I or II
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7 year old girl with non-productive cough and large anterior mediastinal mass on CXR. Best test? Txt?
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Non-Hodgkin Lymphoma Best test: Biopsy of mass, bone marrow bx for staging Treatment: Surgical excision if abdominal tumor. Can use anti-CD20 if B-cell tumor. Rads for some.
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2y/o w/ a fever to 105 3 days later gets a pink, maculopap rash on trunk arms and legs.
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Roseola (HHV6)
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2y/o w/ a low grade fever, lacy reticular rash on cheeks and upper body (spares the palms/soles)
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5th Disease/Erythema Infectiosum (Parvovirus B19)
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Fine, mac-pap desquamating rash begins on chest and spreads to neck, trunk, ; extremities + strawberry tongue. Sore throat 1-2wks prior. Txt?
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Scarlett Fever (group A strep) Txt: PCN prevents rheumatic fever. Won't help reduce changes of APSGN
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Cough, runny nose, fever --> macular rash begins behind ears & spreads down. Gray spots on the buccal mucosa. Txt?
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Measles (paramyxovirus) Txt: Vitamin A + supportive care
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Sore throat, joint pain fever -->pinpoint rash on the face and spreads down. Rose spots on the palate.
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Rubella (paramyxovirus)
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Baby w/ poor feeding. Vesicles in mouth on palms and soles + rash on buttocks
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Hand-Foot-and-Mouth Disease (Coxsackie virus A16)
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16 year old M with swollen parotid glands, fever & HA. Complications?
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Mumps (paramyxovirus) Complications: orchidis and sterility
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8yo" alt="Lyme Dx (Borrelia burgorferi) Complications: arthritis, heart block, meningitis, Bells palsy Txt: Amoxicillin. Doxycycline if >8yo">
6y kid from central PA who went camping has fever. Complications? Txt?
8yo" alt="Lyme Dx (Borrelia burgorferi) Complications: arthritis, heart block, meningitis, Bells palsy Txt: Amoxicillin. Doxycycline if >8yo">answer
Lyme Dx (Borrelia burgorferi) Complications: arthritis, heart block, meningitis, Bells palsy Txt: Amoxicillin. Doxycycline if >8yo
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6y/o kid from coastal NC, went camping. Had fever, myalgias, abd pain. Complications? Txt?
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Rocky Mountain Spotted fever. (Rickettsia rickettsii) Complications: Vasculitis and gangrene Txt: Doxycycline no matter what age
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8yo kid, multiple excoriations on arms, itchy at night. Txt?
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Scabies Txt: 5% Permetrin for whole household
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Honey-colored crusted plaque on face. Txt?
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Impetigo (most common bug is Staph if bullous) Txt: topical Muciprocin if localized
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Inflamed conjunctiva and multiple blisters. Nikolsky's + Txt?
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Staph Scalded Skin Syndrome from exfoliative toxin Txt: IV Oxacillin or Nafcillin
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Meningitis bugs in kids? Txt?
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Strep Pneumo H. Influenza N. meningitidis Txt: Ceftriaxone and Vancomycin
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Meningitis bugs in immune suppressed? s/p brain surgery?
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Listeria, Txt: Ampicillin Staph, Txt: Vancomycin
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Txt for roommate of the kid in the dorms who has bacterial meningitis and petechial rash?
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Rifampin!!
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2 y/o w/ fever to 102, tugging on his right ear. Patient's tympanic membrane is red and bulging. Dx? Risk factors? Txt? Complications?
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Otitis Media Most sensitive dx test? Limited mobility on insufflation or air-fluid level Risks? ?SES, Native Americans, formula fed, tobacco smoke, around kids Treatment? Amoxicillin or azithromycin for 10days. If no improvement in 2-3 days, switch to amox-clav (augmenting) Complications? Effusion - place tubes if bilat effusion >4mo or if bilateral hearing loss.
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12y/o in summer swim league has pain when adjusting his goggle straps behind his ear. Thick exudates coming from the ear and tender posterior auricular nodes. Txt? Complicaitons?
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Otitis Externa Txt? Topical Ciprofloxacin Complications? Malignant external otitis-->can invade to temporal bone-->facial paralysis, vertigo. Need CT and IV abx. May need surgery
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7y/o w/ exudative pharyngitis w/ tender cervical lymph nodes and fever of 102. Dx? Txt?
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GABHS Pharyngitis Dx: rapid strep antigen, send culture if negative and high clinical suspicion Txt: PCN or Erythromycin to prevent Rheumatic fever
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A child presents w/ "muffled voice", stridor and refuses to turn her head to the left. Txt? Complications?
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Retropharyngeal abscess Txt: I&D for C&S. GAS + anaerobes --> 3rd gen cephalosporins + Ampicillin or Clindamycin Complications: Retropharyngeal space communicates with mediastinum --> mediastinitis
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A child presents w/ "hot potato voice" and upon throat exam her uvula is deviated to the right 2/2 a bulge. Txt?
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Peritonsillar abscess Txt: Aspiration or I&D + Abx Tonsillectomy if recurrent, >5 episodes of Strep/yr for 2yrs, or >3 episodes/yr for 3yrs
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Older kid w/ sore throat, fever, fatigue, generalized adenopathy and splenomegaly (anterior and posterior cervical nodes). Dx? Txt? Complications?
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Epstein-Barr virus Dx: blood smear shows atypical lymphocytes. + Heterophiles Ab (Monospot) test Txt: rest and symptomatic Caution: splenic hemorrhage or rupture (most in 2nd week) -> no contact sports until splenomegaly resolves
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What happens if you give an EBV pt Ampicillin or Amoxicillin?
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Maculopapular rash (immune mediated vasculitic)
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1 y/o w/ fever to 100.5 & "barking" cough and loud noises on inspiration. Bug? Txt?
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Croup (Parainfluenza virus) "steeple sign" Txt: mist, epinephrine nebs, steroids
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2 y/o w/ fever to 104 & drooling w/ intercostal retractions and tripod position. Bug? Txt?
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Epiglottitis (H. flu B in unimmunized, Strep pyo, Strep pneumo, Staph) "thumbprint sign" INTUBATE IN OR!!! Txt: anti-Staph Abx + 3rd gen cephalosporin
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Kid comes in w/ cough productive of yellow-green sputum, runny nose and T100.8. Lung exam only reveals some coarse rhonchi. Txt?
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Acute Bronchitis Supportive txt w/ anti-pyretic, tussives, histamines
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Kid comes in w/ cough productive of yellow-green sputum, runny nose and T100.8. Lung exam reveals decreased breath sounds and crackles in LLL. WBC = 16K. Dx?
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Pneumonia Dx: CXR, typical vs atypical
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Most common cause of pneumonia in neonates <28d?
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GBS E coli Listeria
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Most common cause of pneumonia in 1-3mo?
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C. trachomatis RSV Parainfluenzae Strep pneumo
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Findings specific for chlamydia pneumonia?
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Staccato cough eosinophilia
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Most common cause of pneumonia in kids 4mo-5yo?
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VIRAL (RSV) then Strep pneumo
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Most common cause of pneumonia in kids >5yo?
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Mycoplasma Strep pneumo
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9mo infant w/ runny nose, wheezy cough, T = 101.5, and RR = 60. Retractions are visible and pulse ox is 91%. CXR? Bug? Txt?
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Bronchiolitis CXR: hyperinflation w/ patchy atelectasis Bug: RSV, confirm w/ swab Txt: hospitalize if respiratory distress, albuterol nebs, NO steroids Ppx: Palivizumab for premies, CHD, lung dx, immune dx
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9mo infant with severe coughing spells with loud inspiratory whoops and vomiting afterwards. 2 weeks ago she had runny nose and dry cough. Dx? Bug? Txt?
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Whooping cough (Bordetella pertussis) CBC: lymphocytosis Txt: Erythromycin x14d. Treat family members and daycare peers.
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Anatomic risk factor for UTI?
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Vesiculoureteral reflux Give ppx Abx
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Diagnosis of UTI?
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clean catch or cath sample, UA, UCx (>10K CFU) US: any febrile UTI for anatomy, abscess, or hydronephrosis
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Txt of UTI?
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PO Bactrim or Nitrofurantoin
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Txt of pyelonephritis?
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IV Ceftriaxone or Ampicillin + Gentamicin x14d
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Who needs VCUG s/p UTI?
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all males females 5yo w/ 2nd UTI
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Tc-labeled DMSA scan?
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Most sensitive and accurate study of scarring and renal size, but not first line for UTI workup
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DDx for limp?
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Trauma Dev hip dysplasia Legg-Calve-Perthes Dx Transient Synovitis SCFE Osgood-Schlatter JRA Kawasaki
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18mo F w/ asymmetric gluteal folds on exam. Dx? Txt? Risk factors?
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Developmental hip dysplasia Dx: "clunk" on Barlow, US of hip if unsure Txt: Pavilk harness, surgery Risks: 1st born, FHx, breech
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5 y/o M initially w/ painless limp now has pain in his thigh.
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Legg-Calve-Perthes Disease avascular necrosis
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5 y/o M initially w/ a cold 1wk ago now presents w/ a limp & effusion in the hip. X-rays are normal and ESR is 35 (?), T = 99.8, WBCs = 10K. Txt?
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Transient Synovitis Txt: bed rest x1wk + NSAIDS
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14 y/o lanky M w/ nagging knee pain and decreased ROM of the hip on exam. Txt?
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SCFE (Slipped Capital Femoral Epiphysis) Txt: surgically close and pin epiphysis to avoid osteonecrosis
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14 y/o basketball player has knee pain and swelling of the tibial tubercle.
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Osgood-Schlatter overuse injury from jumping
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12 y/o F w/ 2 wk history of daily fevers to 102 and a salmon colored evanescent rash on her trunk, thighs and shoulders. Her left knee and right knee are swollen. Prognostic factors? Txt?
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JRA +ANA good prognostic factor +RF poor prognostic factor (also polyarticular and older age of onset) Txt: NSAIDs > Methotrexate > Steroids
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2y/o F w/ a 2 wk history of daily fevers to 102 and a desquamating rash on the perineum. She has swollen hands and feet, conjunctivitis and unilateral swollen cervical lymph node. Lab results? Further workup? Txt? Complications?
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Kawasaki Dx Labs: ?plts (wk2-3), ? urine WBC, ?LFTs, ?CSF protein Workup: 2D Echo and ECG --> repeat Echo after 2-3wk of txt Txt: IVIG +ASA --> ASA + Warfarin Complications: coronary artery aneurysm or MI
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Bone pain, F. "Onion skinning" on xray. (layers of periosteal development). Txt?
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Ewing sarcoma More common if hx of retinoblastoma or previous radiation. Txt: Rads and/or surgery
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Bone pain, >10yo, M>F. "Sunburst" and "Codman's sarcoma triangle" on xray. Txt?
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Osteogenic sarcoma Txt: Chemo and/or surgery
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Diffuse bone pain in a pt w/ petechiae, pallor, and increased infections?
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Leukemia bone pain can be the presenting sx for leukemia
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Infant with increasing head size, prominent occiput, cerebellar ataxia and delayed motor development. What will you see in imaging?
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Dandy-Walker malformation CT or MRI: Cystic expansion of 4th ventricle. Can see Agenesis of cerebellar vermis.
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This morning, a 1 y/o develops a fever to 102.4. Four hours later, the parents bring her in after she has a 3-4 minute tonic-clonic seizure. Next best step?
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Febrile Seizure Give Acetamenophen. No increased risk for epilepsy
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An 8 year old boy gets in trouble in school because he is always "staring into space". These episodes last only seconds, have lip smacking, and he goes right about his business after they are done. Imaging? Txt?
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Absence Seizure EEG: 3Hz spike and wave discharge Txt: Ethosuxamide or Valproate
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A 6mo old is brought in for multiple symmetric contraction episodes of neck, trunk and extremities that occur in spells. Imaging? Txt?
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Infantile Spasms EEG: Hypsarrhythmia = asynchronous, chaotic, bilateral Txt: ACTH > Prednisone
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8y/o w/ difficulty w/ balance while walking, no DTRs, bilateral Babinski and "explosive, dysarthric speech". Most common cause of death?
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Friedrich Ataxia AR, trinucleotide repeat Most common cause of death is HOCM --> CHF
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2y/o w/ gait disturbance, loss of intellectual fxn, nystagmus and optic atrophy. Cresyl violet --> metachromatic staining.
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Metachromatic leukodystrophy AR, deficiency of Arylsulfatase A --> accumulation of cerebroside sulfate
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12y/o w/ decreased school performance, behavior changes, ataxia, spasticity, hyperpigmentation, ?K, ?Na, acidosis. Prognosis?
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Adrenoleukodystrophy XLR Death w/in 10yrs
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9mo who had previously been reaching milestones starts to lag. Seizures, hypotonia, cherry red macula.
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Tay-Sachs XLR, deficiency of hexosaminidase A --> accumulation of GM2
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3mo infant lays in the "frog-leg" position, <5th% 2/2 feeding difficulties, hypotonic, fasiculations of the tongue and absent DTRs.
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SMA 1-Werdnig-Hoffman Dx most die before age 2yo
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6y/o is brought in 2/2 "clumsiness" and frequent falls. The lower leg has decreased muscle bulk and appears "stork- like". There are multiple small injuries on the hands and feet. You notice pes cavus and claw hand. Tests? Txt?
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Marie-Charcot-Tooth Dx Tests: decreased motor/sensory nerve velocity, dural nerve biopsy. nml CPK Txt: stabilize ankles w/ surgical fusion, usually normal lifespan, most remain ambulatory
