title: Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis.
abstract: 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.
authors.affiliation: Department of Haematology, Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health, London, UK.
authors.forename: L-R
authors.initials: LR
authors.lastname: Sharpe
authors.forename: P
authors.initials: P
authors.lastname: Ancliff
authors.forename: P
authors.initials: P
authors.lastname: Amrolia
authors.forename: K C
authors.initials: KC
authors.lastname: Gilmour
authors.forename: A
authors.initials: A
authors.lastname: Vellodi
mesh_terms: D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000209:etiology*; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human