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

Features:[3][2]

  • 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. 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://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.