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Liver and intrahepatic bile ducts-nontumor

Metabolic diseases

Niemann-Pick disease


Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 30 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.

General
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● Autosomal recessive lysosomal storage disease clinically characterized by neurodegeneration and liver disease (Wikipedia)
● Mutations in the NPC1 and NPC2 genes cause impaired egress of free cholesterol from lysosomes, leading to accumulation of cholesterol and glycosphingolipids

Micro description
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● Foamy Kupffer cells and hepatocytes

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

Electron microscopy description
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● Intralysosomal myelin-like inclusions

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

Additional references
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J Lipid Res 2009;50:327

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


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