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首页> 外文期刊>Eastern Journal of Medicine >A type of progressive myoclonic epilepsy, Lafora disease: A case report
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A type of progressive myoclonic epilepsy, Lafora disease: A case report

机译：一种进行性肌阵挛性癫痫，拉福拉病：一例报告

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A type of progressive myoclonic epilepsy, Lafora disease: A case report ?mer Bekta? 1 , Arzu Y?lmaz 1 , Aylin Heper Okcu 2 , Serap Teber 3 , Erhan Aksoy 1 , Gülhis Deda 1 1 2 3 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.
机译：一种进行性肌阵挛性癫痫，拉福拉病：一例报告“ mer Bekta” 1 ，阿尔苏（Arzu Y？lmaz） 1 ，艾琳·赫珀·奥克库（Aylin Heper Okcu） 2 ，塞拉普·特伯（Serap Teber） 3 ，埃尔汉·阿克苏伊（Erhan Aksoy） 1 ，GülhisDeda 1 1 2 3 拉福拉病是一种罕见的进行性肌阵挛性癫痫病表现为进行性神经功能障碍，肌阵挛，局灶性和全身性癫痫发作。通常，全身性强直阵挛性癫痫发作是该病的首发症状。一名11岁的男性患者在另一个癫痫中心进行了8年的随访。该患者在过去2年中几乎每天都有肌阵挛性癫痫病史，在最近8个月中都有认知能力下降。他带着家人的希望入了我们医院。进行内分泌汗腺活检。汗腺活检对PAS呈阳性，并且含有抗胰酶的多聚糖成分（拉福拉氏体），因此可以诊断为拉福拉病。此处介绍的患者是小儿癫痫的罕见病例，小儿癫痫会导致儿童晚期神经变性并出现典型的癫痫症状。该报告还旨在表明从适当区域进行的活检对诊断很重要。我们的患者在短短八个月内发展出认知功能障碍。据我们所知，这是文学史上最短的时期。

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