摘要
目的 分析中国急性坏死性脑病(ANE)患者的临床特征、RAN结合蛋白2(RANBP2)基因变异情况与预后。方法 回顾性收集2022—2024年北京协和医院等医院向北京协和医院脑炎登记系统登记入组的明确诊断的ANE患者。采用调整的ANE诊断标准,对其临床特点、治疗转归信息、脑脊液及影像学结果进行总结。应用全外显子测序技术检测基因突变。结果 共纳入18例ANE患者,年龄2~72[20(5,43)]岁,男女比例为4∶5。全部患者均有前驱呼吸道感染史,包括新型冠状病毒、甲型流感病毒及肺炎支原体感染。所有患者临床症状均存在发热,其中16例患者存在不同程度的意识障碍,10例患者出现癫痫发作。所有患者均接受腰椎穿刺检查,脑脊液白细胞均正常或轻度升高[3(2,13)×106/L],蛋白含量以轻中度升高为主[1.90(0.92,4.65)g/L],其中6例行脑脊液IL-6检测,结果均明显升高[950(164,2000)pg/ml]。双侧对称的丘脑病灶为ANE的典型影像学特征,其他如幕上皮质及皮质下白质、脑干、小脑等均可受累。14例患者进行了基因检测,其中4例检出RANBP2基因突变(3例为c.1754C>T,1例为c.1966A>G)。所有患者均接受免疫治疗,出院时7例死亡,其余患者均遗留不同程度后遗症。结论 ANE是一种罕见且凶险的副感染性脑病,儿童及成人患者均可见,临床上以感染后快速进展的脑病和双侧丘脑对称性病灶为主要特点,RANBP2基因检测有助于ANE的诊断。
Objective To analyze the clinical characteristics,RAN-binding protein 2(RANBP2)gene variations,and prognosis in Chinese acute necrotizing encephalopathy(ANE)patients.Methods A retrospective analysis of ANE cases registered in the Peking Union Medical College Hospital Encephalitis Registry System from 2022 to 2024,involving patients from Peking Union Medical College Hospital and other hospitals,was conducted.A descriptive study was performed on the clinical characteristics,treatments and prognosis,cerebrospinal fluid examination results,and imaging findings of these patients based on adjusted ANE diagnostic criteria.Whole-exome sequencing technology was used to detect gene mutations in these patients.Results A total of 18 ANE cases were included,ranged in age from 2 to 72[20(5,43)]years.The male-to-female ratio was 4:5.All patients were found with precipitating infections including COVID-19,influenza A virus and Mycoplasma pneumoniae infections.All patients presented with fever,with varying degrees of consciousness disturbance observed in 16 cases,and seizures in 10 cases.All patients underwent lumbar puncture,with normal or mildly elevated white cell counts[3(2,13)×10°/L]and mildly to moderately elevated protein levels[1.90(0.92,4.65)g/L].A total of 6 patients were found with extremely elevated interleukin-6 level[950(164,2000)pg/ml]in cerebrospinal fluid.Bilateral symmetric thalamic lesions were typical imaging features of ANE,while involvement of other areas such as cortical and subcortical white matter,brainstem,and cerebellum was also observed.A total of 14 patients performed genetic tests while 4 patients were identified with RANBP2 gene mutations(c.1754C>T in 3 cases,c.1966A>G in 1 case).All patients received immunotherapy,and 7 patients died at discharge while other patients presented with neurological sequelae of varying degrees.Conclusions ANE is a rare and severe parainfectious encephalopathy that can occur in both children and adults.Clinically,it is characterized by rapidly progressing encephalopathy following systematic infection,with bilateral symmetric thalamic lesions.The detection of RANBP2 gene mutations could help make the diagnosis.
作者
耿畅
宫利
张炜华
杨笑
赵伟丽
王勤周
蒋东晓
武进
任海涛
范思远
关鸿志
彭斌
Geng Chang;Gong Li;Zhang Weihua;Yang Xiao;Zhao Weili;Wang Qinzhou;Jiang Dongxiao;Wu Jin;Ren Haitao;Fan Siyuan;Guan Hongzhi;Peng Bin(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Neurology,Yantai Yuhuangding Hospital,Qingdao University,Yantai 264099,China;National Center of Children's Health,Department of Neurology,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China;Department of Neurology,General Hospital of Ningxia Medical University,Yinchuan 750003,China;Department of Neurology,Affiliated Hospital of Chifeng University,Chifeng 024005,China;Department of Neurology,Qilu Hospital of Shandong University,Jinan 250012,China;Department of Neurology,Weihai Central Hospital,Qingdao University,Weihai 264400,China;Department of Neurology,Ordos Central Hospital,Ordos 017000,China)
出处
《中华神经科杂志》
北大核心
2025年第5期494-500,共7页
Chinese Journal of Neurology
关键词
呼吸病毒感染
支原体感染
急性坏死性脑病
副感染脑病
RANBP2基因
Respirovirus infections
Mycoplasma infections
Acutenecrotizing encephalopathy
Parainfectious encephalopathy
RANBP2gene
