Liver and intrahepatic bile ducts - nontumor
Metabolic diseases
Niemann-Pick disease

Author: Komal Arora, M.D. (see Authors page)

Revised: 27 October 2017, last major update April 2012

Copyright: (c) 2002-2017,, Inc.

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

Cite this page: Arora, K. Niemann-Pick disease. website. Accessed September 25th, 2018.
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

Images hosted on PathOut server:

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

Electron microscopy description
  • Intralysosomal myelin-like inclusions
Electron microscopy images

Images hosted on other servers:

Retinal ganglion cell with Niemann-Pick disease shows numerous membranous cytoplasmic bodies

Additional references