Difference between revisions of "Gaucher disease"
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*Type I: 99% of cases; no CNS | *Type I: 99% of cases; no CNS involvement - survive to adulthood. | ||
*Type II: infantile. | *Type II: infantile onset - CNS degeneration + death at young age. | ||
*Type III: mixed of type I & type II. | *Type III: mixed of type I & type II. | ||
Revision as of 15:50, 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 involvement - survive to adulthood.
- Type II: infantile onset - CNS degeneration + death at young age.
- 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.