Gaucher disease
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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" / "crumpled tissue paper cytoplasm."[4]
Notes:
- Crumpled tissue paper: crumpled tissue paper - image (123rf.com).
- The textbook case may look crumpled... along with some mind altering drugs.
- The typical case is:
- Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).
- The typical case is:
Images:
- Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC).
- Gaucher disease - high mag. (WC).
- Gaucher disease - bone marrow aspirate (swmed.edu).
- Gaucher disease (webpathology.com).[3]
- Gaucher disease (neuropathologyweb.org).[5]
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://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm. Accessed on: 28 May 2011.
- ↑ URL: http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.