误诊为急性小脑共济失调的眼阵挛-肌阵挛综合征(附1例报告及文献复习)  

Opsoclonus Myoclonus Syndrome Misdiagnosed as Acute Cerebellar Ataxia(A Case Report and Literature Review)

作　　者：刘学芳 孙素真[1] 陈芳[1] 李鑫[1] 张晓青 LIU Xue-fang;SUN Su-zhen;CHEN Fang;LI Xin;ZHANG Xiao-qing(Department of Neurology,Children's Hospital of Hebei Province,Shijiazhuang 050031,China)

机构地区：[1]河北省儿童医院神经内一科,石家庄市050031

出　　处：《中国临床神经科学》2020年第4期416-421,共6页Chinese Journal of Clinical Neurosciences

摘　　要：目的探讨与神经母细胞瘤相关的儿童眼阵挛-肌阵挛综合征(OMS)的临床表现、治疗及预后。方法回顾性分析1例被误诊为急性小脑性共济失调OMS患儿的临床资料,并结合文献复习对该病例的年龄、性别、临床症状和体征、实验室检查、治疗及转归等进行分析。结果包括本病例及文献报告总计22例与神经母细胞瘤相关的OMS病例中,男性3例、女性11例,<2岁16例。手术治疗18例,免疫治疗19例。随访(4个月至15年)7例遗留神经系统后遗症。OMS主要表现为眼球阵挛、肌阵挛、共济失调,也可出现行为异常、睡眠障碍、运动语言退步。除针对肿瘤的治疗外,还需给予免疫治疗,以类固醇激素为首选,免疫球蛋白、环磷酰胺、利妥昔单抗等也被证实有效。结论OMS属于副肿瘤综合征,极易被误诊或漏诊,部分病例可能历时数年才被确诊。合并OMS的神经母细胞瘤患儿相对而言预后较好,但易复发,且可能遗留各种神经系统后遗症。Aim To study the clinical manifestations,treatment and prognosis of opsoclonus myoclonus syndrome(OMS)associated with neuroblastoma in children.Methods One case of OMS misdiagnosed as acute cerebellar ataxia was reported and the characteristics of age,sex,clinical symptoms,laboratory tests,treatment and outcomes were analyzed with the related literature.Results Twenty two cases of OMS associated with neuroblastoma were summarized,including the cases reported this paper and the cases in the literature.In the cases,there were 3 male and 11 female,than other cases did not indicated gender.And 16 children were less than two years old.Eighteen cases were treated with surgery and nineteen with immunotherapy.Seven patients were followed-up from 4 months to 15 years,with residual neurological sequelae.The characteristic symptoms are opsoclonus,myoclonic jerking of the limbs and trunk,ataxia,and with behavioral disturbance,sleep disorders and regression of language development.In addition to tumor therapy,immunotherapy was also required.Steroid hormones was the first choice.Immunoglobulin,cyclophosphamide and rituximab had been proved effective.Conclusion OMS is a paraneoplastic syndrome,which is often misdiagnosed or missed.Some patients were diagnosed after many years.Children with neuroblastoma and OMS have a better prognosis than that with cancer,but have a high recurrence rate and with a variety of neurological sequelae.

关 键 词：急性小脑性共济失调 眼阵挛-肌阵挛综合征 副肿瘤综合征 儿童 

分 类 号：R742[医药卫生—神经病学与精神病学] R730.246[医药卫生—临床医学]