Liver & intrahepatic bile ducts
Metabolic diseases
Niemann-Pick disease

Topic Completed: 1 April 2012

Minor changes: 30 September 2020

Copyright: 2002-2021,, Inc.

PubMed Search: Niemann-Pick disease[TI] liver[mh]

Komal Arora, M.D.
Page views in 2020: 1,295
Page views in 2021 to date: 77
Cite this page: Arora K. Niemann-Pick disease. website. Accessed January 25th, 2021.
Definition / general
  • Autosomal recessive lysosomal storage disease clinically characterized by neurodegeneration and liver disease (Wikipedia: Niemann-Pick Disease [Accessed 27 October 2017])
  • 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

Hepatocytes and Kupffer cells have a foamy, vacuolated appearance due to deposition of lipids

Electron microscopy description
  • Intralysosomal myelin-like inclusions
Additional references
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