Department of Pediatrics, University of L'Aquila, Via Vetoio, 1. Coppito, L'Aquila, Italy.
Department of Neurophysiophatology, San Salvatore Hospital, L'Aquila, Italy.
Epilepsy Behav. 2020 Feb;103(Pt A):106578. doi: 10.1016/j.yebeh.2019.106578. Epub 2019 Nov 1.
The objective of the study was to describe the electroclinical features, seizure semiology, and the long-term evolution of gelastic seizures (GS) not associated with hypothalamic hamartoma (HH).
We reviewed video-electroencephalogram (video-EEG) recordings from pediatric patients with GS without HH admitted to 14 Italian epilepsy centers from 1994 to 2013. We collected information about age at onset, seizures semiology, EEG and magnetic resonance imaging (MRI) findings, treatment, and clinical outcome in terms of seizure control after a long-term follow-up.
A total of 30 pediatric patients were stratified into two groups according to neuroimaging findings: group 1 including 19 children (63.3%) with unremarkable neuroimaging and group 2 including 11 children with structural brain abnormalities (36.7%). At the follow-up, patients of group 1 showed better clinical outcome both in terms of seizure control and use of AED polytherapy. Our patients showed remarkable clinical heterogeneity, including seizure semiology and epilepsy severity. Electroencephalogram recordings showed abnormalities mainly in the frontal, temporal, and frontotemporal regions without relevant differences between the two groups. Overall, carbamazepine showed good efficacy to control GS.
Patients with nonlesional GS have a more favorable outcome with better drug response, less need of polytherapy, and good long-term prognosis, both in terms of seizure control and EEG findings.
本研究旨在描述与下丘脑错构瘤(HH)无关的发笑性癫痫(GS)的临床电特征、发作表现和长期演变。
我们回顾了 1994 年至 2013 年间,来自 14 个意大利癫痫中心的 30 名患有 GS 但无 HH 的儿科患者的视频脑电图(video-EEG)记录。我们收集了发病年龄、发作表现、脑电图和磁共振成像(MRI)结果、治疗以及长期随访后控制发作的临床结局等信息。
根据神经影像学结果,共将 30 名儿科患者分为两组:组 1 包括 19 名(63.3%)无明显神经影像学异常的患儿,组 2 包括 11 名有结构性脑异常的患儿(36.7%)。在随访中,组 1 的患者在控制发作和使用抗癫痫药物(AED)联合治疗方面的临床结局更好。我们的患者表现出明显的临床异质性,包括发作表现和癫痫严重程度。脑电图记录显示异常主要在前额、颞叶和额颞叶区域,两组之间无明显差异。总体而言,卡马西平对控制 GS 具有良好的疗效。
无病灶性 GS 患者的预后更好,药物反应更好,需要联合治疗的可能性更小,并且在控制发作和脑电图表现方面都有良好的长期预后。