Difference between revisions of "Gaucher disease"
Jump to navigation
Jump to search
(more) |
m (wikify) |
||
| Line 1: | Line 1: | ||
'''Gaucher disease''' a lysosomal storage disease. It is a rare thingy seen in people that marry their cousins. | '''Gaucher disease''' a [[lysosomal storage diseases|lysosomal storage disease]]. It is a rare thingy seen in people that marry their cousins. | ||
==Pathology== | ==Pathology== | ||
Revision as of 13:16, 3 December 2010
Gaucher disease a lysosomal storage disease. It is a rare thingy seen in people that marry their cousins.
Pathology
- Accumulation of glucocerebroside in monocytes/macrophages due to deficiency of glucocerebrosidase.[1]
Subtypes
- There are several.
- All are autosomal recessive.[1]
Clinical
- Pancytopenia - due to marrow replacement. (???)
- Hepatosplenomegaly.
Microscopic
Features:[2]
- "Crumpled tissue paper" cells = cells with abundant eosinophilic cytoplasm with subtle irregular lines (~0.5 micrometers in width).
Images:
See also
References
- ↑ 1.0 1.1 URL: http://emedicine.medscape.com/article/944157-overview. Accessed on: 3 December 2010.
- ↑ 2.0 2.1 URL: http://www.webpathology.com/image.asp?case=377&n=3. Accessed on: 30 November 2010.
- ↑ URL: http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.