脑组织宏基因组二代测序单纯疱疹病毒1型阳性的颅内血肿患儿1例并文献复习  

Metagenomic next-generation sequencing of a case of intracranial hemorrhage with positive herpes simplex virus 1 and literature review

作　　者：刘丽[1] 王纪文[1] 王翠锦 王英燕 贺影忠[1] 周昀箐[1] 杨波[2] 陶悦[3] 钟玉敏[4] 苟雪静 Liu Li;Wang Jiwen;Wang Cuijin;Wang Yingyan;He Yingzhong;Zhou Yunqing;Yang Bo;Tao Yue;Zhong Yumin;Gou Xuejing(Department of Neurology,Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Me-dicine,National Children′s Medical Center,Shanghai 200127,China;Department of Neurosurgery,Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine,National Children′s Medical Center,Shanghai 200127,China;Institute of Translational Medicine Infection,Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine,National Children′s Medical Center,Shanghai 200127,China;Department of Radiology,Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine,National Children′s Medical Center,Shanghai 200127,China;Guangzhou Weiyuan Gene Technology Co.,Ltd,Guangzhou 510500,China)

机构地区：[1]国家儿童医学中心,上海交通大学医学院附属上海儿童医学中心神经内科,上海200127 [2]国家儿童医学中心,上海交通大学医学院附属上海儿童医学中心神经外科,上海200127 [3]国家儿童医学中心,上海交通大学医学院附属上海儿童医学中心转化医学感染研究所,上海200127 [4]国家儿童医学中心,上海交通大学医学院附属上海儿童医学中心放射科,上海200127 [5]广州微远基因科技有限公司,广州510500

出　　处：《中华实用儿科临床杂志》2020年第16期1263-1266,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：上海市级医院新兴前沿技术项目(SHDC12015113)。

摘　　要：目的探讨以脑血肿为突出表现的单纯疱疹病毒脑炎的临床特点及宏基因二代测序(mNGS)对单纯疱疹病毒脑炎诊断的价值。方法回顾性分析2019年6月上海交通大学医学院附属上海儿童医学中心诊治的1例以脑血肿为突出表现的单纯疱疹病毒脑炎患儿的临床表现、诊断过程和临床治疗及预后,并检索及复习相关文献。结果患儿,男,4岁,伴有低热、头痛、抽搐和呕吐,于当地医院行影像学检查后考虑患儿颅内占位,瘤内出血可能。来上海交通大学医学院附属上海儿童医学中心后行头颅CT检测显示颅内多发出血灶,伴血液系统疾病并发症可能,查血常规及凝血常规未发现异常,骨髓细胞学检查未见异常,脑脊液生化正常,常规白细胞8×10^6/L,脑脊液涂片、培养、二代测序均为阴性,脑脊液自身免疫性脑炎抗体检查亦均为阴性,脑组织活检提示炎症可能。行脑组织mNGS提示单纯疱疹病毒1型双份标本阳性,明确为单纯疱疹病毒脑炎。给予阿昔洛韦抗病毒治疗3周后,患儿病情好转,随访5个月,患儿四肢瘫痪,仅有眨眼及吞咽等活动。结论临床上不能排除脑炎的脑血肿等颅内出血,要考虑到单纯疱疹病毒脑炎的可能性;mNGS有助于明确中枢神经系统病原体的诊断。Objective To investigate the clinical features of Herpes simplex virus encephalitis(HSE)with cerebral hematoma as the prominent manifestation and the significanc of metagenomic next-generation sequencing(mNGS)in the diagnosis of HSE.Methods The clinical manifestations,diagnostic process,clinical treatment and prognosis of a case of HSE with cerebral hematoma as the prominent manifestation at Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine in June 2019 were retrospectively analyzed.The relevant literatures were also searched and reviewed.Results A 4-year-old boy presented with slight fever,headache,convulsion and vomiting was considered to have intracranial space-occupying lesions and possible intratumoral hemorrhage after undergoing imaging examination at a local hospital.The patient was checked by head CT in Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine,which showed that there were many bleeding foci in the brain,indicating the possibility of complications of blood system diseases.Therefor the child was given the examination of blood routine and coagulation routine,but the results were normal,the bone marrow cytology was negative,the cerebrospinal fluid(CSF)of lumbar puncture was biochemically normal,and mNGS were 8×106/L.Besides,CSF smear,culture and next-generation sequencing were negative,the autoimmune encephalitis CSF testing was negative,and brain biopsy suggested inflammation.The mNGS brain tissue showed herpes simplex virus 1 was positive in two specimens,confirming the diagnosis of HSE.After 3 weeks of antiviral treatment with Aciclovir,the child′s condition improved.After a 5-month follow-up,the patient had quadriplegia and only had activities such as blinking and swallowing.Conclusions When the intracerebral hemorrhage such as hematoma caused by encephalitis clinically can not be ruled out,the possibility of HSE should be considered,and mNGS is helpful for identifying the central ner-vous system

关 键 词：颅内出血 脑血肿 单纯疱疹病毒脑炎 脑组织宏基因二代测序 

分 类 号：R725.1[医药卫生—儿科]