儿童眼球阵挛-肌阵挛综合征9例临床诊治与标准化分级量表的应用  

Clinical diagnosis and treatment of 9 childhood opsoclonus-myoclonus syndrome patients and application of standard rating scale

作　　者：汤倩茜 王新华 李凯[2] 周水珍 Tang Qianqian;Wang Xinhua;Li Kai;Zhou Shuizhen(Department of Neurology,Children′s Hospital of Fudan University,National Children′s Medical Center,Shanghai 201102,China;Department of Surgical Oncology,Children′s Hospital of Fudan University,National Children′s Medical Center,Shanghai 201102,China)

机构地区：[1]国家儿童医学中心复旦大学附属儿科医院神经科,上海201102 [2]国家儿童医学中心复旦大学附属儿科医院肿瘤外科,上海201102

出　　处：《中华神经科杂志》2022年第3期223-228,共6页Chinese Journal of Neurology

摘　　要：目的:总结儿童眼球阵挛-肌阵挛综合征(OMS)的临床特征,使用OMS严重程度标准化分级量表进行病情严重程度的评估与预后分析。方法:回顾性分析2011—2019年就诊于复旦大学附属儿科医院神经科、肿瘤科门诊和病房的诊断为OMS的9例患儿的临床表现、诊断治疗及随访,使用OMS严重程度标准化分级量表进行病情评估及预后分析。结果:9例OMS中男性4例,女性5例。OMS发病年龄14个月至5岁,中位年龄17个月。主要症状为眼球阵挛、肌阵挛、共济失调、运动功能倒退、行为和情绪改变、睡眠障碍等。其中8例合并肿瘤,7例行手术后病理示神经母细胞瘤,1例未经治疗肿瘤自发消退、症状缓解。确诊后8例均先予激素联合静脉注射免疫球蛋白治疗,其中3例行促肾上腺皮质激素治疗,5例行甲泼尼龙冲击治疗,后均泼尼松序贯口服,逐渐减量;3例年复发≥2次者予利妥昔单抗治疗。9例均使用严重程度标准化分级量表对治疗前病情严重程度进行评估,结果为:轻度1例,中度3例,重度5例。轻度1例随访3年无复发,无后遗症;中度3例中的2例随访1~2年,无复发,无后遗症;其余1例中度以及重度的5例随访1~8年,均有不同程度的运动、认知后遗症。结论:儿童OMS发病年龄早,治疗前病情评估程度重、多相病程与预后不良相关;初诊时OMS严重程度标准化分级量表评分可用于远期预后的评估。Objective To summarize the clinical features of childhood opsoclonus-myoclonus syndrome(OMS),evaluate severity degree and prognosis using OMS Symptom Severity Standard Rating Scale.Methods The clinical features,diagnosis,therapeutic regimen and follow-up of 9 children with OMS in Department of Neurology and Oncology Department of Children's Hospital of Fudan University between 2011 and 2019 were retrospectively reviewed.Severity degree and prognosis were evaluated using OMS Symptom Severity Standard Rating Scale.Results Among the 9 children with OMS,4 were males and 5 were females.The onset age ranged from 14 months to 5 years,with a median of 17 months.Main symptoms were opsoclonus,myoclonus,ataxia,motor function regression,behavior and mood changes and sleep disorders.Eghit patients were combined with tumor.Seven of them with neuroblastoma were confirmed by surgical pathology,the other one showed spontaneous regression and symptom remission without treatment.Eight patients received hormone combined with intravenous immunoglobulin,of which 3 cases received adrenocorticotropic hormone,while 5 cases received methylprednisolone pulse therapy,with prednisone sequential therapy,decreasing dose gradually.Rituximab was administrated in 3 patients whose annual recurrent time was≥2.Nine patients were divided into 3 groups according to OMS Symptom Severity Standard Rating Scale,1 of mild degree,3 of moderate degree,5 of severe degree.There was no recurrence and sequelae in the mild-degree patient after 3 years follow-up.There was no recurrence and sequelae in 2 of the moderate-degree patients after 1-2 years follow-up.Different degrees of motor,cognitive sequelae were found in 1 of moderate-degree patients and all of severe-degree patients after 1-8 years follow-up.Conclusions Childhood OMS patients have early onset age.Bad symptom severity before treatment and multiphase course are associated with poor prognosis.OMS Symptom Severity Standard Rating Scale is suitable for estimations of long-term prognosis.

关 键 词：肌阵挛 眼球运动障碍 神经母细胞瘤 儿童 预后 标准化分级量表 眼球阵挛-肌阵挛综合征 

分 类 号：R748[医药卫生—神经病学与精神病学]