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]

Clinical

  • Pancytopenia - due to marrow replacement. (???)
  • Hepatosplenomegaly.

Microscopic

Features:[2]

  • "Crumpled tissue paper" cells = cells with abundant eosinophilic cytoplasm with subtle irregular lines (~0.5 micrometers in width).

Images:

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 URL: http://www.webpathology.com/image.asp?case=377&n=3. Accessed on: 30 November 2010.
  3. ↑ URL: http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.
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