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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Tuberous Sclerosis: A Rare Cause of Seizure in an Older Adult
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Tuberous Sclerosis: A Rare Cause of Seizure in an Older Adult

机译:结核硬化症:老年人癫痫发作的罕见原因

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Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by mutation of TCS1 or TCS2 gene. The birth incidenceis estimated to be 1 in 6000. It is a multisystem neurocutaneous disorder characterised by widespread hamartomas, cutaneouschanges and neurological manifestations. It may present as seizures in adult patients and being a rare aetiology, presents a diagnosticchallenge to physicians. Here, the authors report a case of a 48-year-old male who presented with recent onset of seizures andsubsequently was found to have tuberous sclerosis. He was managed with oral levetiracetam and remained asymptomatic duringfollow-ups, over a period of two years.
机译:肺结核硬化是由TCS1或TCS2基因突变引起的稀有常染色体显性遗传障碍。避孕率估计为6000人。它是一种多系统神经皮肤病,其特征是普遍的Hamartomas,CenfiSeChanges和神经表现。它可能在成人患者中癫痫发作并作为罕见的缓解学,为医生提供诊断。在这里,提交人报告了一个48岁的男性案件,其中包含最近发病的癫痫发作,被发现有肺结核生硬化。他用口服左旋虫治疗,在两年内留下了无症状的症状。

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