Lafora disease. A difficult patient in the neurologist's practice

Abstract

© The authors team, 2018.All Rights Reserved. We described a clinical case of Lafora disease, a rare genetically determined disease (mutations in the EPM2A or EPM2B genes) from the group of progressive myoclonus-epilepsy forms with an autosomal recessive type of inheritance. The symptoms of the beginning of Laphora disease are similar to the symptoms of idiopathic generalized epilepsy. The absence of the effect of treatment with an-tiepileptic drugs, the manifestation of new types of seizures, the progression of cognitive impairments allowed us to exclude idiopathic generalized epilepsy with isolated convulsive seizures and juvenile myoclonic epilepsy. The case described in the article indicates the need for the neurologist to be aware of rare genetic syndromes and alertness to progressing myoclonus-epilepsies.