J Korean Neurol Assoc.
1995 Mar;13(1):96-103.
Two Cases of Lafora's Disease
- Affiliations
-
- 1Department of Neurology, Keimyung University School of Medicine, Korea.
- 2Department of Neurology, Taegu Catholic University School of Medicine, Korea.
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.
