Osseous Gaucher's Disease in Early Childhood

Abstract

A seldom considered cause of pathological fractures in children is Gaucher's disease. In our investigation of a patient with this disease, it was found that the occurrence of extensive bone erosion without splenomegaly has not been previously reported in the very young. Although there is no specific test for the abnormal cerebroside, thorough histological studies corroborated the diagnosis. The elevation of acid phosphatase demonstrated in this case is particularly significant since it is almost invariably associated with this disease and represents a simple confirmatory test. The course of this patient has been unpredictable as might be expected since there is little correlation between the clinical manifestations and the degree of histological infiltration by the abnormal cells.