Liver & intrahepatic bile ducts
Metabolic diseases
Niemann-Pick disease
Author: Komal Arora, M.D.
Last author update: 1 April 2012
Last staff update: 29 January 2024
Copyright: 2002-2025, PathologyOutlines.com, Inc.
PubMed Search: Niemann-Pick disease liver
Table of Contents
Definition / general | Microscopic (histologic) description | Microscopic (histologic) images | Electron microscopy description | Additional referencesCite this page: Arora K. Niemann-Pick disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/liverniemannpick.html. Accessed April 3rd, 2025.
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
