Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction?
Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction?
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DOI：
10.1177/1352458520910361
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发表时间：
2020-03-03
影响因子：
5.8
通讯作者：
Hacohen, Yael
中科院分区：
文献类型：
--
作者：
Abdel-Mannan, Omar;Cortese, Rosa;Hacohen, Yael
先前关于儿科多发性硬化症（MS）的队列研究报告了原发性进展性MS（PPMS）病程的发生率非常低，范围为0%至7%。我们确定了6名在18岁之前就诊的患者，并符合2017年McDonald PPMS标准。在年轻人中出现进行性神经系统症状和体征应及时评估遗传原因，如脑白质营养不良、遗传性痉挛性下肢轻瘫和线粒体疾病，因为儿科MS的原发性进行性病程罕见。在没有替代诊断的情况下，随着PPMS的新治疗选择，应考虑这种诊断。
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.