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Progressive cerebeilar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child

Juvenile Sandhoff disease

Departments of Medical Genetics, Paediatrics (Divisions of Neurobgy and Paediatric Pathology) and Pathology, University of British Colurnbia, Vancouver, B.C., Canada.

During the course of investigating a 10-year-old boy because of progressive deterioration of intellectual functioning, ataxia, and hemiplegia, an absence of serum hexosaminidase activity was noted. A skin biopsy examined by electron microscopy showed axonal accumulations of dense osmiophilic deposits. Because of the patient's age at onset and the slowly progressive nature of his illness, we are reporting an atypical juvenile case of Sandhoff disease.

Reprint requests should be addressed to Dr. MacLeod, Department of Medical Genetics, 855 W. 10th Ave, Vancouver, B.C., V5Z 1L7, Canada.

Received for publication July 6, 1976.

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