Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ, 85016, USA.
Department of Radiology, Phoenix Children's Hospital, Phoenix, AZ, USA.
J Neurol. 2022 Feb;269(2):750-757. doi: 10.1007/s00415-021-10536-3. Epub 2021 Mar 29.
Opsoclonus-myoclonus-ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or ataxia; (3) behavioral features, typified by developmental plateauing, irritability and insomnia. About half of cases are associated with an underlying neuroblastoma and diagnostic imaging is essential once OMAS is suspected. A thorough workup, including serum, urine, and cerebrospinal fluid studies is critical to identify underlying biomarkers of OMAS itself or neuroblastoma. Historically, many children had relatively poor long-term outcomes, with residual neurologic and/or neuropsychiatry sequelae typical. More recent concepts have emphasized combined immunotherapy regimens that offer hope for better outcomes in children with this remarkable, challenging disease.
眼震-肌阵挛-共济失调综合征是一种罕见的神经免疫性疾病,通常发生在既往健康的婴儿和幼儿中。其特征为临床三联征:(1)不规则扫视侵入;(2)肌阵挛和/或共济失调;(3)以发育停滞、易激惹和失眠为特征的行为特征。大约一半的病例与潜在的神经母细胞瘤有关,一旦怀疑 OMAS,诊断性影像学检查至关重要。全面检查,包括血清、尿液和脑脊液研究,对于确定 OMAS 本身或神经母细胞瘤的潜在生物标志物至关重要。历史上,许多儿童的长期预后相对较差,典型的是存在残留的神经和/或神经精神后遗症。最近的概念强调了联合免疫治疗方案,为患有这种显著、具有挑战性疾病的儿童提供了更好的预后希望。