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.


MeSH Terms

Biopsy
Brain
Dementia
Diagnosis
Epilepsy
Humans
Liver
Myoclonic Epilepsies, Progressive
Myoclonus
Siblings
Skin
Full Text Links
  • JKNA
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr