J Korean Neurol Assoc.
2003 Apr;21(2):204-206.
Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots
- Affiliations
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- 1Department of Neurology, College of Medicine, Seoul National University, 28 Yeongeon-dong, Jongno-gu, Seoul, 100-744, Korea. sangunlee@dreamwiz.com
- 2Department of Neurology, College of Medicine, Inha University, Korea.
Abstract
- Myoclonus, generalized epilepsy, and progressive neurological decline characterize progressive myoclonus epilepsy. A 25-year-old woman was admitted for the evaluation of seizure, progressive myoclonus and ataxic gait. Her symptoms had developed since she was 13 years old. She did not have facial dysmorphism, hepatosplenomegaly, or dementia. Fundoscopic evaluation revealed cherry-red spots in both macular regions. Biochemical assays of hexosaminidase A, beta-galactosidase, and neuraminidase in leukocytes and urine mucopolysaccharides were free of any abnormality. The patient might have an unknown type of lysosomal storage disease.
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