Opsoclonus-myoclonus-ataxia综合征是一种罕见的神经炎性疾病，常在儿童期发病，病因可以是副肿瘤性的、副感染性的或特发性的。目前尚未确定任何生物标志物，诊断主要依靠临床表现。早期免疫调节治疗与较好的认知预后有关。我们描述了20名西班牙患者的流行病学、临床、治疗和长期预后特点。平均发病年龄为21个月（范围为2-59）。共济失调和Opsoclonus在发病初期和疾病进展期间是最常见的症状。从发病到确诊的平均时间为1.1个月。在患者中检测到45％的神经母细胞瘤，其中7例接受手术切除，2例接受化疗治疗。脑脊液分析显示有4例（25％）出现脑脊液细胞的增多，未检测到任何患者存在抗神经元抗体或寡克隆带。所有患者均使用免疫调节药物。在诊断时，有9名患者开始接受联合免疫调节治疗，5名患者在平均2.2个月后开始接受治疗。长期随访的10名患者中，有6名患者出现轻度或中度认知后遗症。4名患者出现了复发，通常与皮质类固醇剂量的减少同时发生。早期免疫治疗的开始以及必要时采用三重联合疗法，与病发后2年认知障碍的发生率较低相关。版权所有©2020 Sociedad Española de Neurología。由Elsevier España，S.L.U.出版。保留所有权利。

Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients.The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses.Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.Copyright © 2020 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.