Acute neuropathic Gaucher disease in a black infant

Abstract

GAUCHER DISEASE is a familial inborn error of metabolism that presents most often in an adult, nonneuropathic form (type 1) and usually follows a chronic, progressive course characterized by hepatosplenomegaly. Much rarer are the infantile, acute neuropathic (type 2) and juvenile, subacute neuropathic (type 3) forms that have extensive neurologic involvement as well as visceral organ involvement?. 2 Adult individuals with Gaucher disease are frequently of ashkenazic Jewish descent whereas patients with neurologic manifestations do not have any single ethnic predilection. All forms of Gaucher disease are characterized by a profound deficiency in lysosomal glucocerebrosidase? Although black adults with Gaucher disease have been described,' the occurrence of acute neuropathic Gaucher disease in blacks is rare? The present report describes clinical, biochemical, and morphologic characteristics of a black infant with acute neuropathic Gaucher disease.