Syndrome of the month

Type I Gaucher disease, the subject of this article, was initially reported by Gaucher' in 1882 as a non-leukaemic splenic epithelioma. The biochemical defect, an autosomal recessively inherited lysosomal glucocerebrosidase enzyme deficiency, was delineated in 1965,2 3 and more recently the full length coding DNA sequence has been cloned and characterised.4 Gaucher disease is conventionally classified into three types on the basis of neuronopathic manifestations and the natural course of the disorder.5 In contradistinction to type I Gaucher disease, types II and III have a primary neuronopathic infiltration with a progressive neurodegenerative course. The condition is acute in type II with death in early childhood, while type III is a subacute disorder with survival into adulthood.