Ömer BEKTAŞ, Arzu YILMAZ, Aylin Heper OKCU, Serap TEBER, Erhan AKSOY, Gülhis DEDA

A type of progressive myoclonic epilepsy, Lafora disease: A case report

Abstract. Lafora disease is arare group of progressive myoclonic epilepsies characterized with progressiveneurological dysfunction, myoclonus, focal and generalized seizures. Generally,a generalized tonic clonic seizure is the first symptom of the disease. An11-year-old male patient had been followed-up at another center for epilepsyfor 8 years. The patient had a historyof myoclonic seizures for nearly every day for the last 2 years and cognitivedetoriation for the last 8 months. He admitted to our hospital with the desireof his family. Eccrine sweat gland biopsy was performed. The biopsy of the sweatgland was positive for PAS and contained diastase resistant polyglican content(Lafora bodies), and thus, a diagnosis of Lafora disease was established. Thepatient presented here constitutes a rare case of pediatric epilepsy, whichcaused neurodegeneration in late-childhood and onset with typical epilepsysymptoms. This report also aimed to show that biopsy obtained from proper areais important for diagnosis Our patient developed cognitive dysfunction a short period of eight months.To our knowledge, this is the shortest period in literature. Key words: Lafora Disease, progressive myoclonic epilepsy, neurodegeneration

Keywords:

Lafora Disease, progressive myoclonic epilepsy, neurodegeneration,

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