儿童抗γ-氨基丁酸B受体脑炎1例并文献复习

Anti-gamma-aminobutyric acid B receptor encephalitis in children:a case report and literature review

目的探讨儿童抗γ-氨基丁酸B(GABAB)受体脑炎的发病机制、临床特点、辅助检查以及诊断与治疗方法。方法回顾性分析我院随诊15个月的1例抗GABAB受体(GABABR)脑炎患儿的临床资料,总结患儿临床特征、影像学改变、血清(脑脊液)免疫学检查及临床诊疗经过,并分别以“自身免疫性脑炎”“γ-氨基丁酸B受体”“autoimmune encephalitis”“anti-gamma-aminobutyric acid B receptor”为检索词,分别在中国知网、万方、Pubmed数据库查询建库至2023年1月的相关文献,总结分析儿童抗GABABR脑炎的临床特点及影像学改变。结果本研究中患儿急性起病,以肌张力障碍、情绪异常为主要表现,头颅MRI提示基底节区对称性损害,血清抗GABABR抗体阳性,脑脊液抗GABABR抗体阴性,诊断为“抗GABABR脑炎”,经丙球加类固醇免疫治疗后病情缓解。检索到8篇文献,结合本研究,共11例患儿,男性居多,一线治疗主要是皮质类固醇、静注免疫球蛋白、血浆置换。11例患儿中,除1例自发缓解外,其余患儿均接受一线治疗,2例死于严重感染,其余均预后良好。结论临床上对于单纯头颅MRI基底节区对称性损害的患者,排除感染、代谢、肿瘤等常见病因后需注意鉴别抗GABABR脑炎,尽早完善自身免疫性脑炎抗体检测,及早发现并积极治疗能改善患者预后。

Objective To investigate the pathogenesis,clinical features,ancillary tests,diagnosis and treatment of anti-gamma-aminobutyric acid B receptor(GABABR)encephalitis in children.Methods Clinical data of a child with anti-GABABR encephalitis who had been followed up for 15 months were analyzed retrospectively.The clinical features,imaging changes,serum(cerebrospinal fluid)immunological examination and clinical diagnosis and treatment were summarized,the terms"Autoimmune encephalitis","GABA B receptor","Anti-gamma-aminobutyric acid B receptor"were retrieved,to analyze the clinical features and imaging changes of anti-GABABR encephalitis in children,the relevant literatures were sourced from CNKI,Wanfang and Pubmed databases from construction of database to Jan 2023.Results The child with acute onset,mainly with dystonia and mood abnormalities,head MRI suggested symmetry impairment of the basal ganglia,serum anti-GABABR antibody positive,cerebrospinal fluid anti-GABABR antibody negative,diagnosed as"anti-GABABR encephalitis".A total of 8 articles were found in the literature search.Combined with this case,a total of 11 children were the subjecs,and the first-line treatment was mainly corticosteroids,intravenous immunoglobulin and plasma exchange.Of these 11 children,all but one received first-line treatment,two died of severe infection,and the rest had a good prognosis.Conclusion For the patients with symmetric damage in the basal ganglia of cranial MRI alone,anti-GABABR encephalitis should be identificated after excluding infection,metabolism,tumor.The other common causes,The early detection and active treatment of autoimmune encephalitis can improve the prognosis.