中国西部70例室管膜下型灰质异位症伴癫痫患者的回顾性研究

Retrospective study of seventy patients with periventricular nodular heterotrophic and epilepsy in west China

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 The purpose of this study was to better delineate the clinical spectrum of periventricular nodular heterotopia( PNH) in a large patient population to better understand social support in people with PNH and epilepsy in west China. Specifically,this study aimed to relate PNH subtypes to clinical or epileptic outcomes and epileptic discharges by analyzing anatomical features. Methods The study included 70 patients with radiologically confirmed nodular heterotopias and epilepsy. We also recruited healthy controls from nearby urban and rural areas. People with PNH and epilepsy and healthy controls were gender-and age-matched. Two-sided Chi-square test and Fisher's exact t-test were used to assess associations between the distribution of PNHs and specific clinical features. Results Based on imaging data, patients were subdivided into three groups:(a) classical(bilateral frontal and body, n = 25),(b) bilateral asymmetrical or posterior( n = 9) and( c) unilateral heterotopia(n = 36). Most patients with classical heterotopia were females, but were mostly seizure-free. Patients with unilateral heterotopia were prone to develop refractory epilepsy. Conclusions Each group's distinctive genetic mutations, epileptic discharge patterns and overall clinical outcomes confirm that the proposed classification system is reliable. These findings could not only be an indicator of a more severe morphological and clinical phenoype, but could also have clinical implications with respect to the epilepsy management and optimization of therapeutic options.