6-10

Question 1

12 y/o w/ pancytopenia, hepatosplenomegaly, erlenmeyer flask long bones

Answer 1

gaucher - glucocerebrosidase deficiency

Question 2

cardiac involvement in neonatal thyrotoxicosis

Answer 2

heart failure

Question 3

2 wk old w/ dehydration, lack of weight gain, jaundice, hepatosplenomegaly, E Coli UTI/bacteremia

Answer 3

galactosemia

Question 4

mousy odor

Answer 4

PKU

Question 5

immunodeficiency + ataxia

Answer 5

immunodeficiency ataxia-telangiectasia

Question 6

eczema, staph aureus skin infection, high IgE

Answer 6

wiskott-aldrich (high IgA, IgE, low IgM)

Question 7

hyponatremia + hypo-osmolarity serum w/ inappropriately concentrated urine following pneumonia

Answer 7

SIADH - tx w/ fluid restriction if hyponatremia is asymptomatic

Question 8

4yo w/ short stature, brachydactyly, obesity w/ round facies + short neck, cutaneous calcifications

Answer 8

albright hereditary osteodystrophy (pseudohypoparathyroidism) - low Ca, high phos but w/ high PTH b/c resistant to action of PTH

Question 9

kid immobilized in double hip spica cast w/ new constipation, nausea, HTN

Answer 9

immobilization hypercalcemia - check urine Ca:Cr

Question 10

newborn w/ hyponatremia, hyperkalemia, hypoglycemia

Answer 10

CAH (21-hydroxylase def)

Question 11

urine turns dark when exposed to air

Answer 11

alkaptonuria - def in homogentisic acid oxidase

Question 12

low glu w/ high insulin + no c-peptide

Answer 12

exogenous insulin

Question 13

vit D def: Ca, Phos, Alk phos levels

Answer 13

nml Ca, low Phos, high alk phos (w/ high PTH)

Question 14

newborn w/ tetany + seizures

Answer 14

hypocalcemia

Question 15

3 boys in family w/ hypodense calcification of bones + hx of fractures; nonresponsive to dietary changes

Answer 15

familial rickets - nml Ca, low phos

Question 16

CAH electrolyte

Answer 16

low Na, high K

Question 17

hyperaldosteronism: Na, K, Cl, acid

Answer 17

high Na, low K, high Cl, alkalosis

Question 18

addisonian crisis: Na, K

Answer 18

low Na, high K, shock

Question 19

tanner level: sparse, thin, long pubic hair

Answer 19

tanner 2