Non-neuropathic Gaucher disease presenting in infancy

Abstract

The non-neuropathic form of Gaucher's disease was diagnosed in 11 children of non-Jewish ancestry in South Africa; all were under the age of 4. 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 out 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 one 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 point of view of differential diagnosis in any child with hepatosplenomegaly.