抗谷氨酸脱羧酶65抗体相关自身免疫性脑炎的临床特点

Clinical features of anti glutamic acid decarboxylase 65 positive autoimmune encephalitis

目的 探讨抗谷氨酸脱羧酶-65(GAD65)抗体相关自身免疫性脑炎(AE)的临床特点。方法 回顾性分析4例抗GAD65抗体相关AE患者的临床资料。结果 4例患者男女比例为1∶1,发病年龄分别为43岁、26岁、43岁、15岁。4例患者均出现癫痫发作,首发症状为痫性发作3例,以记忆力下降1例。4例患者中,合并甲状腺功能亢进1例,合并桥本氏甲状腺炎1例,甲状腺相关抗体阳性3例。3例患者头颅MRI发现海马或颞叶异常信号,1例未见异常。腰穿CSF检查示压力升高2例,蛋白轻度升高2例,4例均以单个核细胞升高为主。2例患者发病初期出现不同程度EEG异常,表现为慢波增多,其中1例示癫痫样异常放电,并监测到临床发作数次。所有患者均接受糖皮质激素治疗,3例予免疫球蛋白治疗。出院后随访1~18个月,2例患者mRS评分0分,2例患者mRS评分1分。结论 抗GAD65抗体相关脑炎以新发痫性发作为主要临床症状,易出现头颅MRI边缘系统病灶及甲状腺相关抗体阳性,应积极行其他免疫性疾病及肿瘤筛查,免疫治疗对多数患者有效。

Objective To investigate the clinical features of anti glutamic acid decarboxylase 65(GAD65) positive autoimmune encephalitis(AE).Methods The clinical data of 4 patients with anti-GAD65-positive AE were retrospectively analyzed.Results The ages at onset of 4 patients were 43,26,43 and 15 years old,respectively,with a male to female ratio of 1∶1.All the 4 patients suffered seizures.The first clinical manifestations included seizures(3 cases) and cognitive dysfunction(1 case).Among the 4 patients,1 case was complicated with hyperthyroidism,1 case was complicated with Hashimoto’s thyroiditis,and there were increased thyroid-related antibodies in 3 cases.Three cases showed abnormal signals in the hippocampus or temporal lobe on MRI,and another one was normal.CSF pressure was increased in 2 cases,protein was increased in 2 cases,and CSF concentration was mainly increased in mononuclear cells in 4 cases.Two cases showed abnormal EEG in the early stage of the disease,characterized by increased slow waves.One case showed epileptic discharge and clinical seizures several times.All the patients received hormone therapy,of which three were also treated with immunoglobulin.1-18 months after discharge,mRS scores were 0 in 2 cases and 1 in 2 cases.Conclusions New-onset epilepsy is the primary symptom of anti-GAD65-positive AE.It frequently accompanies limbic system lesions in MRI accompanied by the positive thyroid-related antibody.Other autoimmune diseases and tumor screening should be actively performed.Most patients respond to immunotherapy effectively.