Department of Pediatrics, Centro Hospitalar do Médio Ave, V. N. Famalicão, Portugal.
Department of Pediatric Neurology, Centro Materno Infantil do Norte/Centro Hospitalar Universitário do Porto, Porto, Portugal.
Neuropediatrics. 2023 Feb;54(1):58-63. doi: 10.1055/s-0042-1759843. Epub 2023 Jan 16.
Pediatric-onset multiple sclerosis (POMS) accounts for 3 to 10% of all MS diagnoses. POMS is usually characterized by prominent disease activity, and patients are at higher risk of developing physical disability and cognitive impairment.
This article characterizes a cohort of POMS patients followed at the pediatric neurology unit of a Portuguese tertiary hospital.
Retrospective observational study. Clinical records of all patients with POMS between 2011 and 2020 were revised.
A total of 21 patients, with a female:male ratio of 11:10 and a mean age of onset of 14.8 years were included. Clinical manifestations at presentation included myelitis in eight patients (two with associated brainstem syndrome), optic neuritis in six (one with associated cerebellar syndrome), supratentorial symptoms in four, and isolated brainstem syndrome in two. Twenty patients had oligoclonal immunoglobulin G bands in cerebrospinal fluid. Supra- and infratentorial involvement was identified in the first brain magnetic resonance imaging of nine patients. Initial relapses were treated with intravenous steroids in 19 patients. The mean time for diagnosis was 2.8 months. Eleven patients were on first-line treatment (nine on β-interferon, two on teriflunomide) and 10 on second-line treatment (six on natalizumab, three on fingolimod, one on ocrelizumab). The mean annual relapse rate was 0.29 (range, 0.01-3), and the median Expanded Disability Status Scale was 1. Four patients reported learning disabilities and/or cognitive deficits.
About half of patients in this cohort were on second-line disease-modifying treatment, with 19% showing cognitive impairment. Efforts to establish an early diagnosis are crucial to improving these patients' outcomes.
儿科发病多发性硬化症（POMS）占所有多发性硬化症诊断的 3%至 10%。POMS 通常以显著的疾病活动为特征，患者发生身体残疾和认知障碍的风险更高。
本文描述了在葡萄牙一家三级医院儿科神经病学病房就诊的 POMS 患者队列的特征。
回顾性观察性研究。对 2011 年至 2020 年间所有 POMS 患者的临床记录进行了复查。
共纳入 21 例患者，男女比例为 11:10，平均发病年龄为 14.8 岁。首发时的临床表现包括 8 例患者的脊髓炎（其中 2 例伴有脑干综合征）、6 例视神经炎（其中 1 例伴有小脑综合征）、4 例幕上症状和 2 例孤立性脑干综合征。20 例患者的脑脊液中有寡克隆免疫球蛋白 G 带。9 例患者的首次脑磁共振成像显示幕上和幕下受累。19 例患者用静脉注射类固醇治疗初始复发，诊断的平均时间为 2.8 个月。11 例患者接受一线治疗（9 例用β干扰素，2 例用特立氟胺），10 例接受二线治疗（6 例用那他珠单抗，3 例用芬戈莫德，1 例用奥瑞珠单抗）。年平均复发率为 0.29（范围，0.01-3），扩展残疾状态量表中位数为 1。4 例患者报告有学习障碍和/或认知缺陷。
该队列中约一半患者接受二线疾病修正治疗，19%的患者有认知障碍。为改善这些患者的预后，尽早诊断至关重要。
