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March 1977

Macular Cherry-Red Spots and β-Galactosidase Deficiency in an Adult: An Autopsy Case With Progressive Cerebellar Ataxia, Myoclonus, Thrombocytopathy, and Accumulation of Polysaccharide in Liver

Author Affiliations

From the Department of Pediatrics (Drs Suzuki and Nakamura), the Third Department of Internal Medicine (Drs Shimada and Yotsumoto), and the Department of Pathology (Drs Endo and Nagashima), Faculty of Medicine, University of Tokyo, Tokyo.

Arch Neurol. 1977;34(3):157-161. doi:10.1001/archneur.1977.00500150043008

• An adult patient with macular cherryred spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of βgalactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocytes contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.

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