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

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Abstract
Assays of serum enzymes in a 10 yr old boy, examined because of progressive deterioration of intellectual function, ataxia and hemiplegia revealed essentially complete hexosaminidase deficiency. This biochemical finding is usually pathognomonic for Sandhoff disease an inborn error of ganglioside metabolism in which cerebral accumulation of GM2 ganglioside and visceral accumulation of globoside occur because of the deficiency of N-acetyl-.beta.-hexosaminidase A and B (EC 3.2.1.30). Patients with this disease undergo a rapid progressive psychomotor deterioration, seizures and retinal degeneration and usually die by the 4th yr of life. The enzymatic lesion identified in cultured skin fibroblasts, serum and leukocytes from this patient resembles that of patients with Sandhoff disease. The patient''s age at onset and the slowly progressive nature of the disorder clearly differentiate his disease from the classic form of Sandhoff disease.

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