抗体阳性的自身免疫性癫痫42例临床特征分析  

Clinical analysis of 42 autoimmune epilepsy patients with autoantibody

作　　者：吕瑞娟[1] 邵晓秋[1] 崔韬[1] 刘茅茅[1] 李志梅[1] 史伟雄[1] 陈超[1] 王群[1] Lyu Ruijuan;Shao Xiaoqiu;Cui Tao;Liu Maomao;Li Zhimei;Shi Weixiong;Chen Chao;Wang Qun(Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China)

机构地区：[1]首都医科大学附属北京天坛医院神经病学中心、国家神经系统疾病临床医学研究中心,100050

出　　处：《中华神经科杂志》2018年第6期444-450,共7页Chinese Journal of Neurology

基　　金：国家自然科学基金项目(81301119);北京市医管局青苗人才计划项目(QML20160504);中国抗癫痫协会癫痫科研基金-UCB基金资助项目(CAAE-UCB2016008);科技部“国家关键项目研究和发展”项目(2013BA109B03)

摘　　要：目的 回顾分析各种抗体类型自身免疫性癫痫（autoimmune epilepsy,AE）的临床、结构及功能影像、炎性脑脊液、脑电图、伴发肿瘤等特征.方法 收集2014年5月至2017年5月首都医科大学附属北京天坛医院确诊的AE 42例,分析其临床资料、头颅MRI及正电子发射计算机断层显像-CT、脑脊液炎性改变、伴发肿瘤和生化检查结果等,总结其临床特征.结果 42例AE中抗amphiphysin抗体相关者1例,抗接触蛋白相关蛋白2抗体相关2例,抗γ-氨基丁酸B受体抗体相关6例,抗富亮氨酸胶质瘤失活1蛋白（LGI1）抗体相关24例,抗N-甲基-D-天冬氨酸受体（NMDAR）抗体相关9例.患者平均年龄（49.9±14.5）岁,男女比为5：1.除抗NMDAR相关AE外,多表现为边缘叶脑炎的症状,以颞叶癫痫发作为其核心症状（21/33）,发作多短暂且频繁,常出现睡眠中抽搐发作,伴认知功能减退、性格改变、精神行为异常,影像上常见内侧颞叶异常信号或异常代谢,脑脊液可呈炎性反应.面臂肌张力障碍及低钠血症是抗LGI1抗体相关AE比较特异性的临床表现.所有抗体类型相关AE对抗癫痫药物治疗的疗效均较差,加用免疫治疗后预后良好.结论 不同类型抗体相关AE具有不同的临床特征,除抗NMDAR相关AE外,发作症候学多呈短暂、频繁的特点.AE均表现为药物难治性癫痫,免疫治疗＋抗癫痫治疗可使得这部分患者的发作得到良好的控制.Objective To analyze the characteristics of clinical manifestation, brain magnetic resonance imaging （ MRI ） and 18 F-fluoro-deoxy-glucose positron emission tomography （ FDG-PET ） , inflammatory cerebrospinal fluid （ CSF ） , electroencephalography （ EEG ） , and associated tumour in autoimmune epilepsy （ AE） patients with different autoantibodies. Methods Forty-two patients diagnosed as AE with different autoantibodies in Beijing Tiantan Hospital, Capital Medical University between May 2014 and May 2017 were recruited. The clinical manifestation, brain MRI and PET, CSF findings, EEG and biochemical examination of these patients were analyzed. Results Specific autoimmune antibodies were detected in 42 patients, including anti-amphiphysin in one patient, anti-contactin-associated protein 2 in two, anti-γ-aminobutyric acid-B receptor in six, anti-leucine-rich glioma inactivated 1（LGI1） in 24, anti-N-methyl-D-aspartate receptor （ NMDAR ） in nine. The case series of 42 patients had an average age of （49. 9 ± 14. 5） years with a male to female ratio of 5：1. Except anti-NMDAR associated AE, most patients （21/33） presented with the symptoms of limbic encephalitis including temporal lobe seizures, memory decline, personality and neuropsychiatric changes, mesial temporal lobe abnormality in MRI or FDG-PET, and CSF inflammation. The seizure semiologic characteristics included frequent seizure, short seizure duration and common secondarily generalized tonic-clonic seizures during sleeping. Faciobrachial dystonic seizures and hyponatremia were the special clinical manifestation of AE with anti-LGI1. AE patients with all kinds of antibodies presented as initial resistance to anti-epilepsy drugs （ AEDs） and favorable outcome of immunosuppressive treatment in combination with AEDs. Conclusions AE patients with each type of antibody have the special clinical manifestation. Except anti-NMDAR associated AE, the seizure semiologic characteristics often present as frequent and short seizures

关 键 词：癫痫 自身免疫 低钠血症 抗癫痫药物 免疫治疗 

分 类 号：R742.1[医药卫生—神经病学与精神病学]