Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.
Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK.
Mult Scler. 2021 Feb;27(2):309-314. doi: 10.1177/1352458520910361. Epub 2020 Mar 3.
Previous cohort studies on paediatric multiple sclerosis (MS) have reported very low frequencies for a primary progressive MS (PPMS) course ranging from 0% to 7%. We identified six patients presenting prior to the age of 18 years and fulfilling the 2017 McDonald Criteria for PPMS. Presentation with progressive neurological symptoms and signs in young people should prompt evaluation for genetic causes such as leukodystrophies, hereditary spastic paraparesis and mitochondrial diseases given the rarity of primary progressive course in paediatric MS. In the absence of an alternative diagnosis, with new therapeutic options becoming available for PPMS, this diagnosis should then be considered.
先前针对儿科多发性硬化症（MS）的队列研究报告称，原发性进展型 MS（PPMS）的发生率非常低，范围在 0%至 7%之间。我们确定了 6 名在 18 岁之前出现且符合 2017 年 PPMS 麦当劳标准的患者。鉴于儿科 MS 原发性进展病程罕见，年轻人出现进行性神经症状和体征时，应考虑遗传原因，如白质营养不良、遗传性痉挛性截瘫和线粒体疾病，以进行评估。在没有其他诊断的情况下，随着新的治疗选择适用于 PPMS，应考虑该诊断。
