The varied clinical and laboratory manifestations of type II Gaucher's disease.
An infant of Arab extraction with the Type II form of Gaucher's disease is described. His clinical presentation was unusual because in addition to the extensive neurological involvement and marked hepatosplenomegaly a severe congestive cardiomyopathy and renal tubular dysfunction were present. In addition, marked hypergammaglobulinemia and raised serum angiotensin converting enzyme levels were found. It is suggested that these varied manifestations may be ascribed to the consequences of glucocerebroside deposition within the macrophages of the reticuloendothelial system.
D002311:Cardiomyopathy, Dilated / Q000175:diagnosis; D005776:Gaucher Disease / Q000175:diagnosis*; D006529:Hepatomegaly / Q000175:diagnosis; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis; D007223:Infant; D007684:Kidney Tubules / Q000503:physiopathology; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000097:blood; D013163:Splenomegaly / Q000175:diagnosis
D007703:Peptidyl-Dipeptidase A