儿童眼球阵挛-肌阵挛综合征14例临床特征及治疗分析

总结儿童眼球阵挛-肌阵挛综合征（OMS）的临床特征及对促肾上腺皮质激素（ACTH）治疗反应。方法　对北京大学第一医院儿科2006—2010年收治的14例OMS患儿的临床表现、体征、实验室检查及治疗效果、复发情况进行评估。结果　14例OMS中男8例,女6例。发病年龄12～44个月（平均20.7个月）,主要症状为眼球阵挛、肌阵挛、共济失调、睡眠障碍、易激惹。其中1例合并神经母细胞瘤。所有患儿脑电图均未见异常放电。明确诊断前14例均被误诊,其中7例误诊为急性小脑共济失调,3例误诊为癫痫,3例曾误诊为脑炎,1例误诊为遗传代谢病。14例均予ACTH治疗且均有效,7例在ACTH治疗后3～12个月（平均5.7个月）复发。结论　OMS是一种罕见的神经系统自身免疫性疾病,多见于婴幼儿,且与神经母细胞瘤相关。临床表现为快速、不自主、无规律的眼球运动（眼球阵挛）、肌阵挛、共济失调、睡眠障碍、行为改变,因目前对本病认识不足,易被误诊。ACTH治疗有效,但易复发且神经系统后遗症明显,远期预后不良。

Clinical features of opsoclonus-myoclonus syndrome in children and the analysis of the treatment.

Abstract：Objective　To identify the clinical features of opsoclonus-myoclonus syndrome and its response to adrenocorticotropic hormone （ACTH）. Methods　Fourteen OMS cases who were diagnosed during 2006～2010 in Peking University First Hospital were enrolled in this study. Data on medical history, neurological signs,laboratory tests,response to ACTH and the relapse were evaluated. Results　Among 14 cases, eight were male and six were female. Age at presentation ranged from 12 to 44 months （average 20.7 months）. Main symptoms at presentation were opsoclonus （14/14）,myoclonus and ataxia （14/14）,poor sleeping （14/14）,irritability （14/14）. Neuroblastoma was found in one of the fourteen cases. EEGs of all showed no epileptic discharges. Before the diagnosis of OMS,7 cases were ever misdiagnosed as acute cerebellar ataxia,4 were misdiagnosed as epilepsy, 4 were misdiagnosed as encephalitis and 1 was misdiagnosed as hereditary metabolic disease. All patients received ACTH therapy. Neurologic function improved in all children, but seven children had relapse within 3～12months （average 5.7 months）. Conclusion　OMS is a rare autoimmune neurological disorder which is often present in young chlidren.Neuroblastoma is common in children with OMS.OMS is characterized by rapid,involuntary and irregular conjugate eye movements （opsoclonus）,myoclonic jerking of the limbs and trunk,ataxia,poor sleep and behavioral disturbances. Due to the possible immune-mediated mechanisms, treatment with ACTH can be successful, but relapse rate is high and the outcome is unfavourable. Neurological sequelae such as behavioral, language and cognitive problems occur in the majority.