Pediatric

Question 1

Patient presents with ketotic hypoglycemia, seizures, hepatomegaly and doll-like facies

Answer 1

Von Gierke (Glucose-6-phosphatase deficiency)
Think like a German doll named "Von Gierke"

Question 2

Childhood disorder presents with hypotonia and HCOM

Answer 2

Pompe (Lysosomal acid maltase deficiency)

Think like the song “Pompei” by Bastille, gets your heart pumping and dancing around all floppy

Question 3

Childhood disorder characterized hepatomegaly and hypoglycemia

Answer 3

Glycogen storage disease
Cori Disease (debranching enzyme)

Question 4

Patient presents with cirrhosis of the liver and liver failure by age 2

Answer 4

Andersen Disease (Glycogen branching enzyme deficiency)
Think AND(erson) that's a wrap (i.e. early liver failure)

Question 5

Child presents with fatiguability and limited physical activity

Answer 5

GLYCOGEN STORAGE DISEASE
McArdle disease (muscle phosphorylase deficiency)
McArdle starts with "m" and so does "m"uscle

Question 6

Cherry red macula
Intellectual disability/developmental delay
Seizures
Lysosomes with onionskin-whorled membranes

Answer 6

Tay-Sachs (Hexosaminidase “A” deficiency)
“Tay” put his “cherries” and “onions” in a “Sach”
There are many similarities with Niemann-Pick; however, Tay “S”achs also has “S”eizures

Question 7

Hepatosplenomegaly
Aseptic necrosis of femur
Lytic Lesions
Cytopenias
Macrophages that look like crumpled paper

Answer 7

Lysosomal Storage Disease:
Ga(u)cher disease (β-gl(U)cocerebrosidase deficiency)
Think: you got a “gash” to your liver and spleen

Question 8

Childhood disorder:
Optic atrophy
Developmental delay

Answer 8

Kr(a)bbe disease (G(a)lactocerebrosidase deficiency)

Think: squinted eyes (optic atrophy) because you are Krabby

Question 9

Child presenting with peripheral neuropathy (burning pain) of hands/feet

Answer 9

Fabry disease (Alpha-galactosidase A)
"F"abry the Alpha is on "F"ire (paresthesias)

Question 10

Cherry red macula
Neurodegeneration
HSM
Foam cells

Answer 10

Niemman-Pick disease (Spingomyelinase deficiency)

Question 11

Demyelination with ataxia and dementia

Answer 11

Metachromatic leukodystrophy (Arylsulfatase A)