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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
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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.
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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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submitted by โatstillisafraud(217)
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.