CHORUS

Collaborative Hypertext of Radiology

Multisystem entities

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Niemann-Pick disease

• very rare abnormality of lipid metabolism
• autosomal recessive, 50% in Ashkenazi Jews

• Erlenmeyer flask deformity

• DDx: Gaucher (bony infarcts, AVN)

Related CHORUS documents: Gaucher disease Wilson disease hepatomegaly fatty liver Erlenmeyer flask deformity chronic granulomatous disease of childhood

Copyright © 2013, Charles E. Kahn, Jr.