Difference between revisions of "Gaucher disease"
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*There are several. | *There are several. | ||
*All are autosomal recessive.<ref name=emedicine/> | *All are autosomal recessive.<ref name=emedicine/> | ||
Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | |||
*Type I: 99% of cases; no CNS involvment. | |||
*Type II: infantile. | |||
*Type III: mixed of type I & type II. | |||
===Clinical=== | ===Clinical=== | ||
*Pancytopenia - due to marrow replacement. | *Pancytopenia - due to marrow replacement. | ||
*Hepatosplenomegaly. | *Hepatosplenomegaly (type I). | ||
==Microscopic== | ==Microscopic== | ||
Features:<ref name=webpath>URL: [http://www.webpathology.com/image.asp?case=377&n=3 http://www.webpathology.com/image.asp?case=377&n=3]. Accessed on: 30 November 2010.</ref> | Features:<ref name=webpath>URL: [http://www.webpathology.com/image.asp?case=377&n=3 http://www.webpathology.com/image.asp?case=377&n=3]. Accessed on: 30 November 2010.</ref><ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | ||
* | *Mononuclear phagocytes with abundant eosinophilic cytoplasm with subtle irregular lines (~0.5 micrometers in width). | ||
**Known as "crumpled tissue paper cells". | |||
Images: | Images: | ||
*[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/> | *[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/> | ||
*[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref> | *[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref> | ||
==Stains== | |||
*Material in "crumpled tissue paper cells": PAS +ve.<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | |||
==See also== | ==See also== | ||
| Line 24: | Line 33: | ||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Weird stuff]] | [[Category:Weird stuff]] | ||
Revision as of 15:49, 4 May 2011
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]
Types:[2]
- Type I: 99% of cases; no CNS involvment.
- Type II: infantile.
- Type III: mixed of type I & type II.
Clinical
- Pancytopenia - due to marrow replacement.
- Hepatosplenomegaly (type I).
Microscopic
- Mononuclear phagocytes with abundant eosinophilic cytoplasm with subtle irregular lines (~0.5 micrometers in width).
- Known as "crumpled tissue paper cells".
Images:
Stains
- Material in "crumpled tissue paper cells": PAS +ve.[2]
See also
References
- ↑ 1.0 1.1 URL: http://emedicine.medscape.com/article/944157-overview. Accessed on: 3 December 2010.
- ↑ 2.0 2.1 2.2 Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 95. ISBN 978-1416054542.
- ↑ 3.0 3.1 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.