6-5

Question 1

10yo w/ white plaques scattered about brain MRI; following infection or immunization

Answer 1

Acute disseminated encephalomyelitis (ADEM) - tx w/ high-dose steroid infusion

Question 2

infant w/ poor growth, dislocated lenses, stroke

Answer 2

homocysteinuria - can have thrombolic phenomena

Question 3

long/narrow skull in otherwise healthy baby

Answer 3

simple primary craniosynostosis

Question 4

tay sachs deficiency

Answer 4

B-hexosaminidase A

Question 5

neimann-pick deficiency

Answer 5

sphingomyelinase

Question 6

gaucher deficiency

Answer 6

B-glucosidase

Question 7

Fabry deficiency

Answer 7

a-galactosidase

Question 8

krabbe deficiency

Answer 8

B-galactosidase

Question 9

CSF with high protein, low glucose, high lymphocytes

Answer 9

TB meningitis

Question 10

tumor in young child w/ CN + UMN deficits, nonspecific gait

Answer 10

pontine glioma

Question 11

“ash-leaf” lesions

Answer 11

tuberous sclerosis - renal angiomyolipoma, infantile spasms

Question 12

milkmaids grip

Answer 12

assoc w/ sydenham chorea

Question 13

girl w/ precocious puberty + unilateral cafe au lait spots

Answer 13

mccune-albright