Liver & intrahepatic bile ducts

Metabolic diseases

Niemann-Pick disease

Last author update: 1 April 2012
Last staff update: 29 January 2024

Copyright: 2002-2024,, Inc.

PubMed Search: Niemann-Pick disease liver

Komal Arora, M.D.
Page views in 2024 to date: 230
Cite this page: Arora K. Niemann-Pick disease. website. Accessed April 14th, 2024.
Definition / general
  • Autosomal recessive lysosomal storage disease clinically characterized by neurodegeneration and liver disease (Wikipedia: Niemann-Pick Disease [Accessed 29 January 2024])
  • Mutations in the NPC1 and NPC2 genes cause impaired egress of free cholesterol from lysosomes, leading to accumulation of cholesterol and glycosphingolipids
Microscopic (histologic) description
  • Foamy Kupffer cells and hepatocytes
Microscopic (histologic) images

AFIP images

Foamy, vacuolated appearance

Electron microscopy description
  • Intralysosomal myelin-like inclusions
Additional references
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