Two Cases of Lafora's Disease

J Korean Neurol Assoc > Volume 13(1); 1995 > Article

Journal of the Korean Neurological Association 1995;13(1): 96-103.

Lafora씨 병 2례

이승환, 이 형, 이상도, 임정근, 이동국, 박영춘

계명대학교 신경과, 대구 가톨릭 의대 신경과

Two Cases of Lafora's Disease

Seung Hwan Lee, M.D., Hyung Lee, M.D., Sang Doe Yi, M.D., Jeong Geun Lim, M.D., Dong Kuck Lee, M.D., Young Choon Park, M.D.

Department of Neurology, Keimyung University School of Medicine, Department of Neurology, Taegu Catholic University School of Medicine

Abstract

Lafora's disease is one of the major causes of progressive myoclonic epilepsy. The main clinical manifestrations are epilepsy, both generalized and focal, severe and progressive myoclonus, progressive dementia and cerebellar sign, then leading to death within 2-10 years. The definite diagnosis depends on the detection of the characteristic PAS positive inclusions, which are present in various tissues including the brain, liver, muscle and skin. We presented two brothers who showed typical clinical features of this disorder, confirmed by skin and muscle biopsy.