Difference between revisions of "Gaucher disease"
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'''Gaucher disease''' a rare thingy seen in people that marry their cousins. | '''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''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref> | |||
===Subtypes=== | |||
*There are several. | |||
*All are autosomal recessive.<ref name=emedicine/> | |||
===Clinical=== | |||
*Pancytopenia - due to marrow replacement. (???) | |||
*Hepatosplenomegaly. | |||
==Microscopic== | ==Microscopic== | ||
Revision as of 06:19, 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.