Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis.
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.
Sharpe
L-R
LR
Department of Haematology, Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health, London, UK.
Ancliff
P
P
Amrolia
P
P
Gilmour
K C
KC
Vellodi
A
A
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
D008565:Membrane Proteins; C507969:UNC13D protein, human