Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver.
An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase 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. Hepatocyte 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.
D000328:Adult; D001791:Blood Platelet Disorders / Q000209:etiology; D001921:Brain / Q000201:enzymology / Q000473:pathology; D002524:Cerebellar Ataxia / Q000209:etiology; D004831:Epilepsies, Myoclonic / Q000209:etiology; D005677:G(M1) Ganglioside / Q000378:metabolism; D005696:Galactosidases / Q000032:analysis / Q000172:deficiency*; D006601:Hexoses / Q000032:analysis; D006801:Humans; D008099:Liver / Q000032:analysis / Q000201:enzymology / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000473:pathology; D011134:Polysaccharides / Q000032:analysis; D012867:Skin / Q000473:pathology; D012877:Skin Manifestations; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome
D006601:Hexoses; D011134:Polysaccharides; D005677:G(M1) Ganglioside; D005696:Galactosidases