摘要：

研究背景 局灶性皮质发育不良是一组包括皮质分层异常、细胞结构异常和细微白质异常的疾病，是难治性癫的主要病因。本研究总结儿童和青少年局灶性皮质发育不良的临床表现、脑电图和头部MRI特点，以期提高诊断与治疗水平。 方法 回顾分析22 例儿童和青少年局灶性皮质发育不良患者的临床表现、脑电图和头部MRI 特点。 结果 22 例患者中13 例（59.09%）单纯表现为局灶性发作，6 例（27.27%）单纯表现为全面性发作，3 例（13.64%）表现为局灶性发作继发全面性发作；发作频率较频繁，6 例（27.27%）每日均有发作，13 例（59.09%）≥ 1 次/月，3 例（13.64%）< 1 次/月；21 例（95.45%）脑电图监测到异常慢波和样放电。12 例MRI 显示局灶性皮质发育不良位于额叶，头皮脑电图显示7 例（7/12）局灶性额区异常慢波和样放电，2 例（2/12）广泛性慢波和棘慢复合波，2 例（2/12）颞区尖波，1 例（1/12）中央中线少量尖波；单纯局灶性发作7 例（7/12），全面性发作4 例（4/12），局灶性发作继发全面性发作1 例（1/12）。6 例MRI 显示局灶性皮质发育不良位于顶叶，头皮脑电图显示3 例（3/6）局灶性顶区异常慢波和样放电，2 例（2/6）颞枕区样放电，1 例（1/6）无异常；单纯局灶性发作5 例（5/6），局灶性发作继发全面性发作1 例（1/6）。2 例MRI 显示局灶性皮质发育不良位于颞叶，头皮脑电图显示1 例（1/2）局灶性颞区异常慢波和样放电，1 例（1/2）额区样放电；均为全面性发作。2 例MRI 显示局灶性皮质发育不良位于岛叶，头皮脑电图显示1 例（1/2）双侧颞区样放电，1 例（1/2）全导联尖波和尖慢复合波；单纯局灶性发作1 例（1/2），局灶性发作继发全面性发作1 例（1/2）。 结论 局灶性皮质发育不良患者通常于学龄前期和学龄期发病，主要呈现局灶性或全面性发作，亦可见其他发作类型，发作频率较频繁；头部MRI是诊断局灶性皮质发育不良的重要方法；治疗方法主要是抗癫药物，发作控制欠佳的患者考虑癫外科手术。

关键词: 癫痫, 皮质发育畸形, 儿童, 青少年, 磁共振成像, 脑电描记术

Abstract:

Background  Focal cortical dysplasia (FCD) is a group of diseases including abnormal cortical layer, abnormal cell structure and abnormal white matter. It is one of the main causes of intractable epilepsy. In this paper, the clinical manifestations, EEG and MRI characteristics of FCD in children and adolescents were summarized in order to improve the diagnosis and treatment level of clinicians.  Methods  The clinical symptoms, EEG and MRI manifestations of 22 cases were retrospectively analyzed.  Results  Among 22 cases, 13 cases (59.09%) only showed focal seizures, 6 cases (27.27%) only showed generalized seizures, and 3 cases (13.64%) showed focal to generalized seizures. The seizure frequency of 22 patients was namely: 6 cases (27.27%) had seizures daily, 13 cases (59.09%) were more than one time/month, and 3 cases (13.64% ) were less than one time/month. EEG in 21 cases (95.45% ) showed abnormal slow waves and epileptiform discharges. MRI of 12 cases showed FCD infrontal lobe, the scalp EEG of whom showed abnormal slow waves and epileptiform discharges in focal frontal region in 7 cases (7/12), extensive slow waves and spike and slow wave complex in 2 cases (2/12), temporal sharp waves in 2 cases (2/12), and a small amount of sharp waves at midline in one case (1/12). Simple focal seizures occurred in 7 cases (7/12), generalized seizures occurred in 4 cases (4/12), and focal to generalized seizures occurred in one case (1/12). MRI of 6 cases showed FCD in parietal lobe, the scalp EEG of whom showed abnormal slow waves and epileptiform discharges in focal parietal region in 3 cases (3/ 6), epileptiform discharges in temporo-occipital region in 2 cases (2/6), and no abnormality in one case (1/6). Simple focal seizures occurred in 5 cases (5/6), and focal to generalized seizures occurred in one case (1/6). MRI of 2 cases showed FCD in temporal lobe, the scalp EEG of whom showed abnormal slow waves and epileptiform discharges in focal temporal region in one case (1/2) and epileptiform discharges in frontal region in one case (1/2). Generalized seizures occurred in those 2 cases. MRI of 2 cases showed FCD in insular lobe, the scalp EEG of whom showed epileptiform discharges in bilateral temporal regions in one case (1/2) and sharp waves and sharp and slow wave complex of all lead in one case (1/2). Simple ocal seizures occurred in one case (1/2) and focal to generalized seizures occurred in one case (1/2).  Conclusions  FCD mostly occurs in preschool and school ge. Epileptic seizures are focal or generalized, other seizure type can also be seen, and the frequency is high. Head MRI is an important method for diagnosing FCD. Antiepileptic drugs (AEDs) therapy is mostly used to control epileptic seizures. Epilepsy surgeries should be considered if the curative effect of AEDs is poor.  

Key words: Epilepsy, Malformation of cortial development, Child, Adolescent, Magnetic resonance imaging, Electroencephalography