NBME 22 Sphingomyelin degradation (NBME Answers)

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NBME 22 Answers

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A 6-month-old boy has recently been diagnosed ...
Sphingomyelin degradation 🔍 / 📺 / 🌳
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+15
submitted by ∗seagull(1794),

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shiT si a icen acohppra ot geynifitnid dan ntaregit iuscfttaoi ds.edoirr

oegi#cFtht:csgpvqa/k=hO?d./oM6=w6mphg&cwclbk8copnom+e:Rs/b.rat+xhtsiXa2rwblsa=mte

+6
submitted by ∗atstillisafraud(214),

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iameknNci-Pn aeDssie nsespter htwi mealtn aoiaettnrdr, ipldi adlen (famo cslel) ni beno rwmrao dna yhrcre red stpo no aul.amc oN nlanghpsesyoiemi surstel ni ldipbuu of nlpngiemhisyo hichw bilsdu pu ni eha.scgaporm

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 +2

+3
submitted by ∗meningitis(621),

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kiP"c uryo iBg, eaomFi, Zireab nose wtih yuro ernhgiSp"

eshoCo tosinpo wtih eth eelttr .I

noil,pmeyngSI eygipnSnmsliae,oh asrIngogb eatymel(hgoap t,ce) zearIb d,oeibs amoF elcls

+1
submitted by ∗castlblack(72),

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uH.h oWh eles uothhtg tshi aws Ghaercu ltinu ouy ahd to cpki ?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. +2

+0
submitted by ∗chaosawaits(63),

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Can nsoeome elesap anxpeil hyw iths is otn eorp?lleemteyhcriasoh It lsao strseepn twhi MSH dna trhee ear suoneurm fmoa cel.sl Seicn oheeaslmrroetlyehcpi aols stsernep hwti taectinip,ras tucdo'ln atth ixpelan erntrruec mviigt?on A91F0,2 49.p hankT yuo for yuro rsopesse!n

chaosawaits I mean Type I familial dyslipidemia (hyperchylomicronemia). Am I correct in assuming that the most differentiating presentation is the developmental delay? +