抗谷氨酸脱羧酶抗体相关神经系统综合征的临床特点分析  

Clinical characteristics of neurological syndrome associated with anti-glutamic acid decarboxylase antibodies

作　　者：刘慧勤[1] 董泽钦 徐佳佳 张弥兰[1] 庞瑞 蒋玙姝 袁丽品[1] 黄月[1] 李玮[1] Liu Huiqin;Dong Zeqin;Xu Jiajia;Zhang Milan;Pang Rui;Jiang Yushu;Yuan Lipin;Huang Yue;Li Wei(Department of Neurology,Henan Provincial People's Hospital,People's Hospital of Henan University,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院,河南大学人民医院神经内科,郑州450003

出　　处：《中华神经医学杂志》2023年第7期683-689,共7页Chinese Journal of Neuromedicine

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20200027);河南省科技攻关计划项目(212102310833)。

摘　　要：目的探讨抗谷氨酸脱羧酶(GAD)抗体相关神经系统综合征的临床特点。方法收集河南省人民医院神经内科自2019年1月至2022年7月诊治的6例抗GAD抗体相关神经系统综合征患者的临床表现、影像学及实验室检查结果、治疗方案及随访预后情况等,分析总结其相关特点。结果6例患者中男性3例,女性3例;发病年龄为(54.3±17.7)岁。3例临床表型为僵人综合征,1例为边缘叶脑炎+全面性癫痫,1例为边缘叶外脑炎+枕叶癫痫,1例为小脑性共济失调(确诊为小细胞肺癌相关副肿瘤综合征)。4例患者甲状腺过氧化物酶抗体水平升高,1例重叠抗γ-氨基丁酸B型受体抗体及抗Amphiphysin抗体阳性。2例僵人综合征患者腰穿失败,1例脑脊液白细胞数、蛋白轻度升高,余3例基本正常;2例脑脊液中特异性寡克隆区带阳性。1例患者头颅MRI示双侧枕叶异常信号,余患者未见特异性炎性病灶。6例患者均接受激素+免疫球蛋白/血浆置换治疗,除1例小细胞肺癌相关副肿瘤综合征患者外,余患者出院时改良Rankin量表(mRS)评分均有明显改善,并接受长程免疫治疗。2例僵人综合征患者病情逐渐进展,末次随访时(1例3年,1例2年)mRS评分达5分。结论抗GAD抗体相关神经系统综合征的临床表型包括僵人综合征、边缘叶脑炎、边缘叶外脑炎、癫痫、小脑性共济失调,部分患者为副肿瘤综合征。除副肿瘤综合征患者外,其余患者对免疫治疗反应良好。部分僵人综合征患者病程呈慢性化,预后不良。Objective To explore the clinical characteristics of neurological syndrome associated with anti-glutamic acid decarboxylase(GAD)antibodies(Abs).MethodsSix patients with neurological syndrome associated with anti-GAD-Abs admitted to Department of Neurology,Henan Provincial People's Hospital from January 2019 to October 2022 were chosen.The clinical manifestations,imaging and laboratory results,therapeutic schedules,and follow-up prognoses of these patients were collected and summarized.ResultsThree females and 3 males were included,with onset age of(54.3±17.7)years.Three patients had stiff-person syndrome(SPS),1 had limbic encephalitis+generalized epilepsy,1 had extralimbic encephalitis+occipital epilepsy,and 1 had cerebellar ataxia who was diagnosed with paraneoplastic syndrome associated with small cell lung cancer.Four patients had elevated level of thyroid peroxidase antibodies,and 1 patient was positive for overlapping anti-gamma aminobutyric acid B receptor antibodies and Amphiphysin antibodies.Two patients with SPS had failed lumbar puncture;1 had slightly increased white blood cells and proteins in cerebrospinal fluid(CSF);the remaining 3 patients were basically normal.Specific oligoclonal bands in CSF were observed in 2 patients.Brain MRI showed abnormal signals in the bilateral occipital lobes in 1 patient,and no specific inflammatory lesions in other patients.All patients accepted corticosteroids and intravenous immunoglobulin/plasma exchange therapies;except for the one with paraneoplastic syndrome associated with small cell lung cancer,the remaining 5 patients had improved modified Rankin scale(mRs)scores at discharge and received long-term immunotherapy.Two patients with SPS had gradually aggravated symptoms,and mRs scores reached 5 at the last follow-up(one for 3 years and the other one for 2 years).ConclusionsThe clinical manifestations of patients with neurological syndrome associated with anti-GAD-Abs include SPS,limbic encephalitis,extralimbic encephalitis,epilepsy and cerebellar ataxia;some of

关 键 词：抗谷氨酸脱羧酶抗体 僵人综合征 脑炎 小脑性共济失调 副肿瘤综合征 

分 类 号：R741[医药卫生—神经病学与精神病学]