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NBME 22 Answers

nbme22/Block 1/Question#11 (24.2 difficulty score)
A 6-month-old boy has recently been diagnosed ...
Sphingomyelin degradation🔍

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m-ekPiannciN iDassee setprsen ithw temanl natriratdoe, idlip dalen (foam llsce) in bneo rowamr dan rcyrhe red stpo no .aalmuc No oempsghliysnneai etusrls in lduuipb of ipgmynesoihnl wihch iulbsd pu ni agohcre.spam

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  

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cP"ki oruy giB, Femaoi, aireZb nose ihtw rouy g"rniphSe

sCheoo sotpion hiwt teh ttlree I.

enSiog,lpmnIy ,Siyeelhsmpoannig bragsIogn tyhpegaa(lmeo tc,e) aIbzer ,edobsi omaF sllec

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. +1