J Korean Neurol Assoc > Volume 21(2); 2003 > Article

Journal of the Korean Neurological Association 2003;21(2): 204-206.

황반앵두반점이 동반된 진행성 근간대성 간질

강규식 , 윤창호 이상건

서울대학교 의과대학 신경과학교실,인하대학교 의과대학 신경과학교실

"Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots"

Kyu Sik Kang

"Department of Neurology, College of Medicine, Seoul National University, Department of Neurology, College of Medicine, Inha University"

Abstract

"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.Key Words : Progressive myoclonus epilepsies, Macular cherry-red spot"