Objective: To summarize the clinical and prognostic features of children with opsoclonus-myoclonus-ataxia syndrome (OMAS). Methods: A total of 46 patients who met the diagnostic criteria of OMAS in the Department of Neurology, Beijing Children's Hospital from June 2015 to June 2023 were retrospectively analyzed. Centralized online consultations or telephone visits were conducted between June and August 2023. The data of the children during hospitalization and follow-up were collected, including clinical manifestations, assistant examination, treatment and prognosis. According to the presence or absence of tumor, the patients were divided into two groups. The chi-square test or Mann-Whitney U test was used to compare the differences between the two groups. Univariate Logistic regression was used to analyze the factors related to OMAS recurrence and prognosis. Results: There were 46 patients, with 25 males and the onset age of 1.5 (1.2, 2.4) years. Twenty-six (57%) patients were diagnosed with neuroblastoma during the course of the disease, and no patients were categorized into the high-risk group. A total of 36 patients (78%) were followed up for≥6 months, and all of them were treated with first-line therapy with glucocorticoids, gammaglobulin and (or) adrenocorticotrophic hormone. Among the 36 patients, 9 patients (25%) were treated with second-line therapy for ≥3 months, including rituximab or cyclophosphamide, and 17 patients (47%) received chemotherapy related to neuroblastoma. At the follow-up time of 4.2 (2.2, 5.5) years, 10 patients (28%) had relapsed of OMAS. The Mitchell and Pike OMS rating scale score at the final follow-up was 0.5 (0, 2.0). Seven patients (19%) were mildly cognitively behind their peers and 6 patients (17%) were severely behind. Only 1 patient had tumor recurrence during follow-up. The history of vaccination or infection before onset was more common in the non-tumor group than in the tumor group (55%(11/20) vs. 23%(6/26), χ²=4.95, P=0.026). Myoclonus occurred more frequently in the non-tumor group (40%(8/20) vs. 4%(1/26), χ²=7.23, P=0.007) as the onset symptom. Univariate Logistic regression analysis showed that the tumor group had less recurrence (OR=0.19 (0.04-0.93), P=0.041). The use of second-line therapy or chemotherapy within 6 months of the disease course had a better prognosis (OR=11.64 (1.27-106.72), P=0.030). Conclusions: OMAS in children mostly starts in early childhood, and about half are combined with neuroblastoma. Neuroblastoma in combination with OMAS usually has a low risk classification and good prognosis. When comparing patients with OMAS with and without tumors, the latter have a more common infection or vaccination triggers, and myoclonus, as the onset symptom, is more common. Early addition of second-line therapy is associated with better prognosis in OMAS.
目的： 总结儿童眼球阵挛-肌阵挛-共济失调综合征（OMAS）患儿的临床及预后特征。 方法： 对2015年6月至2023年6月于北京儿童医院神经内科住院的46例OMAS患儿进行回顾性病例分析。并在2023年6至8月对患儿进行集中的互联网诊疗或电话访视。收集患儿住院和门诊随访期间的病例资料，包括临床表现、辅助检查、治疗及预后情况等。根据患儿是否合并肿瘤分为两组，组间比较采用χ²检验或Mann-Whitney U检验。使用单因素Logistic回归分析OMAS复发和预后相关因素。 结果： 46例患儿中男25例，起病年龄1.5（1.2，2.4）岁。26例（57%）患儿病程中确诊神经母细胞瘤，无患儿高危。36例（78%）患儿随访≥6个月，这36例患儿均使用糖皮质激素、丙种球蛋白和（或）促肾上腺皮质激素作为一线治疗，其中9例（25%）使用二线治疗≥3个月（包括利妥昔单抗和环磷酰胺），17例（47%）使用神经母细胞瘤相关的化疗；随访4.2（2.2，5.5）年，10例（28%）患儿出现OMAS复发。36例患儿末次随访时Mitchell and Pike OMS评分量表评分为0.5（0，2.0）分，7例（19%）认知轻度落后于同龄儿，6例（17%）重度落后。仅1例患儿在随访中出现肿瘤复发。未合并肿瘤组起病前疫苗接种或感染病史较合并肿瘤组更多见［55%（11/20）比23%（6/26），χ²=4.95，P=0.026］，首发症状肌阵挛出现更频繁［40%（8/20）比4%（1/26），χ²=7.23，P=0.007］。Logistic单因素回归分析发现，合并肿瘤组比未合并肿瘤组更少出现复发［OR=0.19（0.04~0.93），P=0.041］，病程6个月内使用二线治疗或化疗预后更好［OR=11.64（1.27~106.72），P=0.030］。 结论： 儿童OMAS多于幼儿期起病，约半数合并神经母细胞瘤。合并OMAS的神经母细胞瘤通常危险分级低，预后好。对比合并和未合并肿瘤的OMAS患儿，后者起病前感染或接种疫苗诱因更常见，首发症状肌阵挛更多见。早期加用二线治疗与OMAS更好的预后相关。.