Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots.
- Author:
Kyu Sik KANG
1
;
Chang Ho YUN
;
Sang Kun LEE
Author Information
1. Department of Neurology, College of Medicine, Seoul National University, 28 Yeongeon-dong, Jongno-gu, Seoul, 100-744, Korea. sangunlee@dreamwiz.com
- Publication Type:Case Report
- Keywords:
Progressive myoclonus epilepsies;
Macular cherry-red spot
- MeSH:
Adolescent;
Adult;
beta-Galactosidase;
Dementia;
Epilepsy, Generalized;
Female;
Gait;
Glycosaminoglycans;
Hexosaminidase A;
Humans;
Leukocytes;
Lysosomal Storage Diseases;
Myoclonic Epilepsies, Progressive*;
Myoclonus;
Neuraminidase;
Seizures
- From:Journal of the Korean Neurological Association
2003;21(2):204-206
- CountryRepublic of Korea
- Language:Korean
-
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.
