Gaucher disease

Gaucher disease a lysosomal storage disease. It is a rare thingy that may be seen in people that marry their cousins.

Pathology

• Accumulation of glucocerebroside in monocytes/macrophages due to deficiency of glucocerebrosidase.
• Defect in acid beta-glucosidase gene (GBA gene).

Subtypes

• There are several types - all are autosomal recessive.

Types:

• 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:

• 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."

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:

• WC:
  • Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC).
  • Gaucher disease - high mag. (WC).
• www:
  • Gaucher disease - bone marrow aspirate (swmed.edu).
  • Gaucher disease (webpathology.com).
  • Gaucher disease (neuropathologyweb.org).

Stains

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

See also

• Fabry disease.