ISSN 1301 - 0883 / E-ISSN 1309 - 3886
 
 








  A type of progressive myoclonic epilepsy, Lafora disease: A case report [Eastern J Med]
Eastern J Med. 2013; 18(1): 34-36

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

Ömer Bektaş1, Arzu Yılmaz1, Aylin Heper Okcu2, Serap Teber3, Erhan Aksoy1, Gülhis Deda1
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Lafora disease is a rare group of progressive myoclonic epilepsies characterized with progressive neurological dysfunction, myoclonus, focal and generalized seizures. Generally, a generalized tonic clonic seizure is the first symptom of the disease. An 11-year-old male patient had been followed-up at another center for epilepsy for 8 years. The patient had a history of myoclonic seizures for nearly every day for the last 2 years and cognitive detoriation for the last 8 months. He admitted to our hospital with the desire of his family. Eccrine sweat gland biopsy was performed. The biopsy of the sweat gland was positive for PAS and contained diastase resistant polyglican content (Lafora bodies), and thus, a diagnosis of Lafora disease was established. The patient presented here constitutes a rare case of pediatric epilepsy, which caused neurodegeneration in late-childhood and onset with typical epilepsy symptoms. This report also aimed to show that biopsy obtained from proper area is important for diagnosis Our patient developed cognitive dysfunction a short period of eight months. To our knowledge, this is the shortest period in literature.

Keywords: Lafora Disease, progressive myoclonic epilepsy, neurodegeneration


Ömer Bektaş, Arzu Yılmaz, Aylin Heper Okcu, Serap Teber, Erhan Aksoy, Gülhis Deda. A type of progressive myoclonic epilepsy, Lafora disease: A case report. Eastern J Med. 2013; 18(1): 34-36


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