Familial Multiple Sclerosis in a Mother and Son Pair: A Sri Lankan and a South Asian First.

IF 0.9 Q4 CLINICAL NEUROLOGY
Case Reports in Neurological Medicine Pub Date : 2021-09-23 eCollection Date: 2021-01-01 DOI:10.1155/2021/1172870
Ishani Rajapakshe, Bimsara Senanayake
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Abstract

Multiple sclerosis (MS) is an immune-mediated demyelinating disorder involving the central nervous system (CNS). It is common amongst young females. Although the exact cause of MS is yet unknown, viral infections such as EBV, environmental factors, and autoimmune and genetic mechanisms involving HLA-DRB1 loci are implicated. Familial MS is reported from some geographic locations and ethnic groups but is thought to be rare in Asia. In this paper, we present both a Sri Lankan mother and her son, with clinically definite MS conforming to McDonald's 2017 clinical and MAGNIMS 2016 radiological criteria. Both had oligoclonal bands in their CSF (OCB-IEF) with no serum bands indicating intrathecal production and were negative for AQP4 and MOG IgG serology. Familial MS is more common among siblings, with sister-sister relationship having the highest rate. The lowest relation was amongst father-son and mother-son pairs. Amongst siblings, the risk of MS is between 3.5% and 4.7%. Inherited factors rather than common environmental exposure influence susceptibility in such cases. To the best of our knowledge, MS occurring in a mother-son pair has not been reported before either from Sri Lanka or South Asia.

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一对母子的家族性多发性硬化症:斯里兰卡和南亚首例。
多发性硬化症(MS)是一种涉及中枢神经系统(CNS)的免疫介导的脱髓鞘疾病。这在年轻女性中很常见。虽然MS的确切病因尚不清楚,但病毒感染(如EBV)、环境因素以及涉及HLA-DRB1基因座的自身免疫和遗传机制都与MS有关。据报道,家族性多发性硬化症存在于一些地理位置和种族群体中,但在亚洲被认为是罕见的。在本文中,我们介绍了一位斯里兰卡母亲和她的儿子,他们的临床确诊多发性硬化症符合麦当劳2017年临床和MAGNIMS 2016放射学标准。他们的脑脊液中都有低克隆带(OCB-IEF),没有血清带表明鞘内产生,AQP4和MOG IgG血清学均为阴性。家族性多发性硬化症在兄弟姐妹中更为常见,姐妹关系的发病率最高。父子和母子之间的关系最低。在兄弟姐妹中,多发性硬化症的风险在3.5%到4.7%之间。在这种情况下,遗传因素而不是常见的环境暴露影响易感性。据我们所知,无论是在斯里兰卡还是南亚,以前都没有报道过母子发生多发性硬化症的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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26
审稿时长
11 weeks
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