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Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

L-R Sharpe1, P Ancliff, P Amrolia

  • 1Department of Haematology, Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health, London, UK.

Journal of Inherited Metabolic Disease
|March 10, 2009
PubMed

Haemophagocytic lymphohistiocytosis (HLH) is a rare and rapidly progressive disease which, untreated, invariably leads to death. Gaucher disease is a rare lysosomal storage disorder. The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting as HLH. Immunoblot revealed a deficiency of Munc 13-4, an intracellular protein responsible for docking of secretory lysosomes. This, and other possible pathogenetic mechanisms to explain the link are discussed.

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