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首页> 外文期刊>Seizure: the journal of the British Epilepsy Association >Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient
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Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient

机译:1型神经纤维瘤病患者的皮质畸形引起的癫痫

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Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by cafe-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people.1 Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8-7% of NF1 patients.2 Rarely, case reports have described patients with NF1 and epilepsy due to malformations of cortical development. The types of malformations have included hemimegalencephaly, cerebellar leptomeningeal heterotopias, transmantle cortical dysplasia, periventricular band of heterotopic gray matter, pachygyria, occipital encephalocele, and unilateral as well as bilateral polymicrogyria.3 We report an additional case of epilepsy in a Neurofibromatosis 1 patient with heterotopic gray matter and closed-lip schizencephaly.
机译:神经纤维瘤病1,一种常染色体显性遗传性神经皮肤疾病,特征是咖啡馆黄斑,Lisch结节,神经纤维瘤和学习障碍,约有3000人患病。1与结节性硬化症等其他神经皮肤疾病不同,癫痫不是常见的临床特征,发生在3.8-7%的NF1患者中。2很少有病例报告描述由于皮层发育畸形而导致NF1和癫痫的患者。畸形的类型包括半巨脑,小脑软脑膜异位症,经皮层皮质发育异常,异位灰质的脑室周围带,绒毛膜回,枕叶脑膨出,单侧以及双侧多毛状回。3我们在神经纤维瘤患者中发生了另一例癫痫病。异位灰质和闭唇裂脑。

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