NBME 22 Sphingomyelin degradation (NBME Answers)

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NBME 22 Answers

nbme22/Block 1/Question#11 (reveal difficulty score)
A 6-month-old boy has recently been diagnosed ...
Sphingomyelin degradation 🔍 / 📺 / 🌳 / 📖
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submitted by ∗atstillisafraud(217)

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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.

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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

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submitted by ∗meningitis(643)

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

Choose options with the letter I.

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

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submitted by ∗castlblack(78)

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

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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

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submitted by ∗chaosawaits(92)

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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!

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

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