NBME 22 Sphingomyelin degradation (NBME Answers)

need help with your account or subscription? click here to email us (or see the contact page)

You must be logged in to vote!

Retired NBME 22 Answers

nbme22/Block 1/Question#11 (reveal difficulty score)
A 6-month-old boy has recently been diagnosed ...
Sphingomyelin degradation 🔍 / 📺 / 🌳 / 📖
tags:

+5 upvote downvote
submitted by ∗atstillisafraud(217)

get full access to all content ⋅ pick a username

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.

get full access to all content ⋅ pick a username

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

You must be logged in to vote!

+3 upvote downvote
submitted by ∗meningitis(644)

get full access to all content ⋅ pick a username

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

Choose options with the letter I.

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

get full access to all content ⋅ pick a username

You must be logged in to vote!

+2 upvote downvote
submitted by ∗castlblack(78)

get full access to all content ⋅ pick a username

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

get full access to all content ⋅ pick a username

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

You must be logged in to vote!

+0 upvote downvote
submitted by ∗chaosawaits(93)

get full access to all content ⋅ pick a username

Can someone please explain why this is not hypercholesterolemia? It also presents with HSM and there are numerous foam cells. Since hypercholesterolemia also presents with pancreatitis, couldn't that explain recurrent vomiting? FA2019, p94. Thank you for your responses!

get full access to all content ⋅ pick a username

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

You must be logged in to vote!

Must-See Comments from nbme22

sacredazn on Unrearranged immunoglobulin gene
seagull on Decreased binding of RNA polymerase
seagull on Anticholinergic
mcl on Area labeled ‘D’
liverdietrying on Release of stored thyroid hormone from a ...
kernicterusthefrog on Displacement
keycompany on Negative nitrogen balance
joha961 on Displacement
imgdoc on Area labeled ‘C’ (Abducens nucleus, right)
alwaysanonymous on 25 mL/cm H2O
drdoom on 1 in 600
seagull on Glutamine
yotsubato on Phase variation
bubbles on Acute retroviral infection