Non-neuropathic Gaucher disease presenting in infancy.

Abstract

The non-neuropathic form of Gaucher disease was diagnosed in 11 children of non-Jewish ancestry in South Africa; all were under the age of 4 yr. None had any neurological involvement and, apart from the precocious presentation and rapid course, the features in each resembled those of the classical adult or chronic non-neuropathic form of Gaucher disease. By contrast, the condition presented after puberty in 24 of 28 Ashkenazi Jews who were studied during the same investigation. Activity of .beta.-glucosidase was defective in both groups of patients and they could not be distinguished by histological criteria. Only 1 child with the infantile neuropathic form of Gaucher disease was identified during the survey. The preponderance of the atypical non-neuropathic form of the disorder in young children is of practical importance from the viewpoint of differential diagnosis in any child with hepatosplenomegaly.