热性惊厥伴部分性发作患者的临床特征分析

目的: 探讨我国部分性癫痫伴热性惊厥附加症患者临床特点及归类分析.方法: 分析诊断部分性癫痫伴热性惊厥附加症患者及其相关家属的临床资料.通过门诊就诊、个人访视、电话等方式收集总结其临床资料,包括临床表现、发病规律、脑电图、影像学资料以及治疗转归情况.结果: 选取的29例患者中,19例有家族史.临床表现为有热性惊厥史,均有部分性发作表现,以复杂部分性发作为主,全面性发作均为强直阵挛发作,1例同时有可疑失神发作,无肌阵挛,强直及失张力发作.16例患者行影像学检查有4例一侧海马萎缩.26例患者接受脑电图检查,16例有局限性癫痫样放电或慢波增多,9例有全面性异常放电,1例基本正常.治疗以卡马西平类效果欠佳,丙戊酸类、托吡酯效果好,对难治性患者,联合氯硝安定效果较好.结论: 部分性癫痫伴热性惊厥附加症可能为全面性癫痫伴热性惊厥附加症(GEFS )另一引申亚型,其发病机理可能与GEFS 相似,为离子通道病,其治疗不同于一般的部分性发作.

Clinical characteristics of Partial Epilepsy with Febrile Seizure Plus (PEFS+)

Objective:To explore the clinical findings and nosology of partial epilepsy with febrile seizure plus(PEFS+) in China.Methods: Clinical data on PEFS+ were analyzed in 29 patients and their family members.These data included symptoms and signs,pattern of onset,EEG,imaging findings and treatment outcomes,and were obtained via office consultation,home visits or telephone interview.Results: Twenty-nine patients were recruited,comprising 11 males and 18 females,of which 19 had family history.The clinical characteristics involved a history of febrile seizure,signs of partial seizure(mainly complex partial seizure) or general seizure(all in form of tonic-clonic seizures).In one patient who did not show signs of myoclonia,tonus or atonia,absence seizure was suspected.Unilateral hippocampus atrophy was found in 4 of 16 patients evaluated with imaging techniques.Of 26 patients who had EEG,16 showed focal discharges or increased slow waves,9 showed generalized pathological discharges,and 1 was largely normal.Treatment with carbamazepines appeared inefficient unless valproic acid(VPA) and Topamax(TPM) were administered.For refractory cases,VPA and TPM combined with clonazepam may result in better outcomes.Conclusion: PEFS+ may be a subset of generalized epilepsy with febrile seizure plus(GEFS+).As channelopathies,the both possibly share similar pathogenesis and should be managed specifically unlike common partial seizures.