Two Cases of Lafora's Disease.
- Author:
Seung Hwan LEE
1
;
Hyung LEE
;
Sang Doe YI
;
Jeong Geun LIM
;
Dong Kuck LEE
;
Young Choon PARK
Author Information
1. Department of Neurology, Keimyung University School of Medicine, Korea.
- Publication Type:Case Report
- MeSH:
Biopsy;
Brain;
Dementia;
Diagnosis;
Epilepsy;
Humans;
Liver;
Myoclonic Epilepsies, Progressive;
Myoclonus;
Siblings;
Skin
- From:Journal of the Korean Neurological Association
1995;13(1):96-103
- CountryRepublic of Korea
- Language:Korean
-
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.