Türk Nöroloji Dergisi (Mar 2010)
Two Siblings Diagnosed as Lafora Disease
Abstract
Lafora disease is a typical progressive myoclonic epilepsy that is characterized by autosomal recessive inheritance, myoclonic and occipital seizures, progressive dementia, ataxia, and dysarthria. Two siblings with myoclonic and generalized tonic clonic seizures, progressive dementia, ataxia and dysarthria, who were diagnosed as Lafora disease by sweat gland biopsy, are discussed.