抗谷氨酸脱羧酶65抗体阳性的自身免疫相关性癫痫的临床特征分析  

Analysis of clinical characteristics of antiglutamic acid decarboxylase 65 antibody-positive autoimmune-associated epilepsy

作　　者：吴辉婷 黄珊珊[1] 刘晓艳[1] 朱遂强[1] Wu Huiting;Huang Shanshan;Liu Xiaoyan;Zhu Suiqiang(Department of Neurology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院神经内科,武汉430030

出　　处：《中华神经科杂志》2024年第9期959-967,共9页Chinese Journal of Neurology

摘　　要：目的:探讨抗谷氨酸脱羧酶65(GAD65)抗体阳性的自身免疫相关性癫痫(AAE)患者的临床表型、辅助检查特征、治疗方式及预后。方法:回顾性分析2019年7月至2023年12月就诊于华中科技大学同济医学院附属同济医院神经内科的9例抗GAD65抗体阳性的自身免疫相关性癫痫患者的临床资料,并随访预后。结果:9例患者的发病年龄为13.0~59.0(29.0±13.4)岁,其中8例为女性,1例为男性。起病时的临床表型包括边缘性脑炎/边缘外脑炎(6例)和慢性癫痫(3例,其中1例合并僵人综合征)。前者发病时的头颅磁共振成像多显示海马、杏仁核T 2/液体衰减反转恢复序列(FLAIR)异常信号或肿胀(5例),可伴有脑膜受累(2例合并软脑膜炎,1例合并硬脑膜炎),后者的头颅磁共振成像正常(2例)或出现双侧海马体尾T 2/FLAIR信号增高(1例)。脑电图检查常显示异常慢波(6例)或颞区为著的痫样放电(6例)。5例合并一种或多种系统性自身免疫性疾病,其中1例为自身免疫性多内分泌腺病综合征Ⅱ型。所有患者均接受一线免疫治疗,7例长期口服免疫抑制剂。随访5~45个月,2例脑炎复发(新发癫痫发作),末次随访时所有患者预后良好(改良Rarkin量表评分均≤2分),4例癫痫发作改善,其中2例达到癫痫无发作状态。结论:抗GAD65抗体阳性的AAE主要包括脑炎后癫痫和慢性颞叶癫痫。患者常合并系统性自身免疫性疾病,少数磁共振成像可表现为脑膜受累。免疫治疗和抗癫痫发作药物通常反应不佳,部分接受早期免疫治疗和长期免疫抑制剂的脑炎后癫痫患者可达到持续无发作。Objective:To explore the clinical manifestations,auxiliary examinations,treatment,and outcomes of autoimmune-associated epilepsy(AAE)with anti-glutamic acid decarboxylase 65(GAD65)antibodies.Methods:Nine patients diagnosed with AAE with anti-GAD65 antibodies between July 2019 and December 2023 at the Department of Neurology of Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,were enrolled.Their clinical data and prognosis were retrospectively analyzed.Results:The onset age of these 9 cases was 13.0-59.0(29.0±13.4)years,with 8 females and 1 male.The main clinical phenotypes at onset included limbic encephalitis/extralimbic encephalitis(6 cases)and chronic epilepsy(3 cases,of whom 1 case was accompanied with stiff person syndrome).The former often demonstrated T 2/fluid attenuated inversion recovery(FLAIR)hyperintensities and enlargement of hippocampus and amygdala(5 cases),and may present with concomitant meningoencephalitis(2 cases)or hypertrophic pachymeningitis(1 case).The latter showed normal(2 cases)or increased T 2/FLAIR signals in the hippocampal tails(1 case)in magnetic resonance imaging.Electroencephalogram findings were usually characterized by slow activities(6 cases)and temporal epileptiform discharges(6 cases).Five cases concurrently presented with one or more other autoimmune diseases,including the autoimmune polyendocrine syndrome typeⅡin 1 case.All cases received first-line immunotherapy and 7 cases received long-term immunosuppressive agents.Eight cases were followed up for 5-45 months and 2 cases experienced relapse of autoimmune encephalitis(presented with new-onset seizures).At the last follow-up,all cases achieved favourable outcomes according to the modified Rankin Scale scores(all≤2)and 4 patients had reduced seizures,of whom 2 were seizure-free.Conclusions:Anti-GAD65 antibody-positive AAE is mainly composed of postencephalitic epilepsy and chronic temporal lobe epilepsy.The co-occurrence of systemic autoimmune diseases is common,and meningeal lesions

关 键 词：谷氨酸脱羧酶 脑炎 神经系统自身免疫疾病 自身免疫相关性癫痫 

分 类 号：R742.1[医药卫生—神经病学与精神病学]