NBME 22 Answers : Block 1 : #11 = A 6-month-old boy has recently been diagnosed with ...

NBME 22 Answers ↦

nbme22/Block 1/Question#11
A 6-month-old boy has recently been diagnosed ...
Sphingomyelin degradation🔍

+3 upvote downvote
submitted by atstillisafraud(110),

Niemann-Pick Disease presents with mental retardation, lipid laden (foam cells) in bone marrow and cherry red spot on macula. No sphingomyelinase results in buildup of sphingomyelin which builds up in macrophages.

meningitis "Pick your **Big** **Foamie** **Zeibra** nose with your Sphinger" Choose options with the letter I. SpIngomyelin, Sphingomyelinase, bIgorgans (hepatomegaly etc), zeIbra bodies, Foam cells +

+1 upvote downvote
submitted by meningitis(307),

"Pick your Big, Foamie, Zeibra nose with your Sphinger"

Choose options with the letter I.

SpIngomyelin, Sphingomyelinase, bIgorgans (hepatomegaly etc), zeIbra bodies, Foam cells

+0 upvote downvote
submitted by castlblack(8),

Huh. Who else thought this was Gaucher until you had to pick D?

elephantbuddy I think that the hepatosplenomegaly is definitely a common characteristic but you would see more bone abnormalities in Gaucher. This patient has no bone crises and exhibits developmental delay, HSM, and foam cells which is more characteristic of Niemann-Pick. +