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Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis
Author(s) -
Sharpe L.R.,
Ancliff P.,
Amrolia P.,
Gilmour K. C.,
Vellodi A.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-1091-2
Subject(s) - medicine , hemophagocytic lymphohistiocytosis , human genetics , metabolic disease , disease , pathology , genetics , biology , gene
Summary 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.