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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)


Charles E. Kahn, Jr., MD  -  2 February 1995
Last updated:  1 September 2006


 

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

 

Medical College of Wisconsin Copyright © 2006, Charles E. Kahn, Jr.
Medical College of Wisconsin