目的总结儿童眼球阵挛-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。 Objective To summarize the clinical features of children with opsoclonus myoclonus syndrome (OMS) and the response to adrenocorticotropic hormone (ACTH) treatment. Methods The clinical manifestations, signs, laboratory tests, treatment effects and recurrence of 14 OMS patients admitted to the First Hospital of Peking University from 2006 to 2010 were evaluated. Results 14 cases of OMS were 8 males and 6 females. The age of onset was 12 to 44 months (average 20.7 months). The main symptoms were opsoclonus, myoclonus, ataxia, sleep disorders and irritability. One case had neuroblastoma. No abnormal EEG discharge in all children. Clearly diagnosed in the first 14 cases were misdiagnosed, of which 7 cases misdiagnosed as acute cerebellar ataxia, 3 cases misdiagnosed as epilepsy, 3 cases had misdiagnosed as encephalitis, 1 case misdiagnosed as genetic metabolic disease. All 14 cases were treated with ACTH and were effective, and 7 cases relapsed 3 to 12 months (mean 5.7 months) after ACTH treatment. Conclusion OMS is a rare neurological autoimmune disease, more common in infants and young children, and is associated with neuroblastoma. Clinical manifestations of fast, involuntary, irregular eye movements (eye clonus), myoclonus, ataxia, sleep disorders, behavioral changes, due to lack of knowledge of the current disease, easily misdiagnosed. ACTH treatment effective, but easy to relapse and neurological sequelae obvious, long-term prognosis is poor.