Difference between revisions of "Gaucher disease"

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Images:
Images:
*[http://commons.wikimedia.org/w/index.php?title=File:Gaucher_disease_-_very_high_mag.jpg Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)].
*[[WC]]:
*[http://commons.wikimedia.org/wiki/File:Gaucher_disease_-_high_mag.jpg Gaucher disease - high mag. (WC)].
**[http://commons.wikimedia.org/w/index.php?title=File:Gaucher_disease_-_very_high_mag.jpg Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)].
*[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].
**[http://commons.wikimedia.org/wiki/File:Gaucher_disease_-_high_mag.jpg Gaucher disease - high mag. (WC)].
*[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>
*www:
*[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://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].
**[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>


==Stains==
==Stains==

Revision as of 07:07, 2 January 2012

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

Features:[3][2]

  • 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).

Images:

Stains

  • Material in "crumpled tissue paper cells": PAS +ve.[2]

See also

References

  1. ↑ 1.0 1.1 URL: http://emedicine.medscape.com/article/944157-overview. Accessed on: 3 December 2010.
  2. ↑ 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. ↑ 3.0 3.1 URL: http://www.webpathology.com/image.asp?case=377&n=3. Accessed on: 30 November 2010.
  4. ↑ URL: http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm. Accessed on: 28 May 2011.
  5. ↑ URL: http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.
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