Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

J Inherit Metab Dis. 2009 Dec:32 Suppl 1:S107-10. doi: 10.1007/s10545-009-1091-2. Epub 2009 Mar 11.


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.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Gaucher Disease / complications*
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / genetics
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / diagnosis*
  • Lymphohistiocytosis, Hemophagocytic / etiology*
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics


  • Membrane Proteins
  • UNC13D protein, human