中枢神经系统受累的儿童噬血细胞性淋巴组织增生症临床分析  

Central nervous system involvement in children with haemophagocytic lymphohistiocytosis

作　　者：陈颖洁 谢丽冰 覃丽波 莫晓露 黄伟萍 CHEN Yingjie;XIE Libing;QIN Libo;MO Xiaolu;HUANG Weiping(Department of Pediatrics,Liuzhou Workers Hospital,Liuzhou 545005,China)

机构地区：[1]柳州市工人医院儿科,广西壮族自治区柳州545005

出　　处：《中华实用诊断与治疗杂志》2020年第2期155-156,共2页Journal of Chinese Practical Diagnosis and Therapy

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z20180493).

摘　　要：目的分析儿童噬血细胞性淋巴组织增生症(hemophagocytic lymphohistiocytosis, HLH)患儿中枢神经系统受累的临床特征和预后。方法回顾性分析13例出现中枢神经系统受累的HLH患儿的临床及影像学资料,并应用Kaplan-Meier法分析5年生存率。结果 13例HLH患儿中癫痫发作7例,意识障碍3例,面神经麻痹1例,烦躁1例,吞咽困难和构音障碍1例;1例有恶性血液病家族史;3例MUNC13-4基因突变,1例编码perforin-1基因突变;4例感染EB病毒;13例患儿均行脑CT和MRI检查,7例影像学表现正常,6例异常;7例癫痫发作患者中2例服用抗癫痫药物治疗,5例未服用抗癫痫药物情况下癫痫停止发作;13例患儿死亡4例,5年生存率为69%。结论中枢神经系统受累的HLH患者死亡风险较高,脑CT/MRI影像检查可表现异常,对提高HLH诊断有一定价值。Objective To analyze the clinical features and prognosis of central nervous system(CNS) involvement in children with hemophagocytic lymphohistiocytosis(HLH). Methods The clinical and imaging data of CNS involvement were retrospectively analyzed in 13 children with HLH. Kaplan-Meier was used to analyze the 5-year survival rate. Results In 13 children with HLH, there were 7 with epilepsy, 3 with consciousness disorder, 1 with facial palsy, 1 with irritability, and 1 with dysphagia and dysarthria. One child had family history of malignant hematopathy. MUNC13-4 gene mutation was found in 3 children, and perforin-1 gene mutation was found in 1. Four children were infected with EB virus. All patients underwent brain CT and MRI examinations, showing normal in 7 and abnormal in 6. In 7 children with epilepsy, 2 received anti-epileptic drugs and the other 5 stopped seizures without taking anti-epileptic drug. Four children died. The 5-year survival rate was 69%. Conclusion HLH patients with CNS involvement has high fatality risk. The cerebral CT/MRI could show abnormalities and contributes to the diagnosis of HLH.

关 键 词：噬血细胞性淋巴组织增生症 儿童 中枢神经系统受累 CT MRI 

分 类 号：R725.5[医药卫生—儿科]