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目的室管膜下型灰质异位症(Periventricular nodular heteropia,PNH)是皮质发育畸形的一种主要类型,越来越成为难治性癫痫的重要病因。通过连续观察PNH伴癫痫患者,了解中国西部PNH患者的社会支持情况及其影响因素。方法2012年9月-2016年12月连续招募华西医院癫痫专科门诊70例影像学磁共振(MRI)确诊为PNH且伴发癫痫的患者,并从成都市及其周边乡镇招募健康对照(70名)。癫痫患者和健康对照按性别和年龄匹配成对。根据患者结节位置,分为经典型、双侧不对称型、单侧型3个亚组,进行临床特点的比较。结果患者70例,女39例(55.7%),男31例(44.3%);年龄6~67岁,平均23.1岁。在3个亚组中,经典型有25例,双侧不对称型有9例,最常见的类型为单侧型36例。统计分析发现,经典型多发于女性,大多数癫痫控制良好;单侧型患者癫痫预后较其他两种类型更差。结论 MRI在PNH的诊断和分类中至关重要,经典型、双侧不对称型、单侧型3个亚组的临床表现、脑电图特征及癫痫预后各有不同。经典型患者癫痫控制最好,而在单侧型患者中,难治性癫痫为其主要临床特征,提示结节位置或许是癫痫预后的指征。
Objective Periventricular nodular heteropia (PNH) is one of the major types of cortical malformations and is increasingly becoming an important cause of refractory epilepsy. Through continuous observation of PNH patients with epilepsy, understand the social support situation and its influencing factors of PNH patients in western China. Methods From September 2012 to December 2016, 70 consecutive patients with epilepsy diagnosed as PNH and epilepsy by imaging magnetic resonance imaging (MRI) were enrolled from 70 epilepsy specialist clinics in West China Hospital, and 70 healthy controls were recruited from Chengdu and its surrounding towns and villages. ). Epileptic patients and healthy controls matched by sex and age. According to the location of patients with nodules, divided into classic, bilateral asymmetric, unilateral type 3 subgroups, the clinical features of the comparison. Results There were 70 patients, 39 women (55.7%) and 31 males (44.3%). The patients were 6 to 67 years old with an average of 23.1 years. Of the three subgroups, 25 were classic, 9 bilateral unilateral, and the most common type was unilateral 36. Statistical analysis found that the classic multiple in women, most of the control of epilepsy; unilateral patients with epilepsy prognosis worse than the other two types. Conclusion MRI is very important in the diagnosis and classification of PNH. The clinical manifestations, EEG features and epilepsy prognosis of the three subgroups of classic, bilateral asymmetric and unilateral type are different. Classic patients with the best control of epilepsy, and in unilateral patients, refractory epilepsy is its main clinical features, suggesting that nodular position may be an indicator of epilepsy prognosis.