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多发性硬化症和肌萎缩侧索硬化症:是否存在关联或警示信号?病例报告及文献复习。

Multiple sclerosis and amyotrophic lateral sclerosis: is there an association or a red flag? A case report and literature review.

机构信息

Department of Adult Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Faculty of medicine, University of Aleppo, Aleppo, Syria.

出版信息

BMC Neurol. 2024 Aug 31;24(1):307. doi: 10.1186/s12883-024-03821-x.

Abstract

BACKGROUND

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system that causes damage to the myelin and axons and is caused by genetic or environmental factors. Amyotrophic lateral sclerosis (ALS) is characterized by rapidly progressive degeneration of the motor neurons resulting in the presence of upper and lower motor-neuron signs and symptoms.

CASE PRESENTATION

A 46-year-old female patient presented with symmetrical weakness of the lower limbs and numbness that developed over weeks. Magnetic resonance imaging (MRI) of the brain exhibited typical demyelination features, high signal abnormality involving the periventricular and subcortical white matter, and an oval-shaped lesion. The patient was diagnosed with MS based on the clinical presentation and radiological examination. However, there was rapid progression of the symptoms, involvement of bulbar dysfunction, and muscle atrophy. Furthermore, the patient did not respond to acute therapy and immunotherapy, which made the diagnosis of MS less likely or suggested that it could be associated with another diagnosis. Her neurophysiological test met the criteria of ALS, and she was started on riluzole.

LITERATURE REVIEW

We reviewed all articles from 1986 to 2023, and there were 32 reported cases describing the co-occurrence of ALS and MS in different populations. Our case is the 33rd, and to our knowledge, it is the only case reported in the Middle East and specifically in Saudi Arabia. The main proposed mechanism according to postmortem examinations is a combination of degenerative and inflammatory processes with a cascade of production of reactive oxygen species and nitric oxide, which lead to cell death and apoptosis during concomitant ALS with MS.

CONCLUSION

The co-occurrence of ALS and MS is extremely rare, but it can be explained by pathogenesis related to neurodegeneration, inflammation, or genetic susceptibility. Rapid progressive motor and bulbar symptoms could be red-flag symptoms, extensive evaluation might be needed for these patients.

摘要

背景

多发性硬化症(MS)是一种中枢神经系统的炎症性疾病,可导致髓鞘和轴突损伤,由遗传或环境因素引起。肌萎缩侧索硬化症(ALS)的特征是运动神经元迅速进行性退化,导致上运动神经元和下运动神经元的体征和症状。

病例介绍

一名 46 岁女性患者出现下肢对称性无力和麻木,症状持续数周。脑部磁共振成像(MRI)显示典型的脱髓鞘特征,脑室周围和皮质下白质高信号异常,有卵圆形病变。根据临床表现和影像学检查,该患者被诊断为 MS。但症状迅速进展,出现球部功能障碍和肌肉萎缩。此外,患者对急性治疗和免疫治疗无反应,这使得 MS 的诊断不太可能或提示可能与另一种诊断有关。她的神经生理学检查符合 ALS 的标准,开始使用利鲁唑治疗。

文献综述

我们回顾了 1986 年至 2023 年的所有文章,有 32 篇文章描述了不同人群中 ALS 和 MS 的同时发生。我们的病例是第 33 例,据我们所知,这也是在中东,特别是在沙特阿拉伯报告的首例病例。根据尸检结果,主要提出的机制是退行性和炎症过程的结合,导致活性氧和一氧化氮的级联产生,在同时患有 MS 和 ALS 时导致细胞死亡和细胞凋亡。

结论

ALS 和 MS 同时发生极为罕见,但可以用与神经退行性变、炎症或遗传易感性相关的发病机制来解释。快速进行性的运动和球部症状可能是警示症状,这些患者可能需要进行广泛的评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ef9/11365120/6efeac3f62fe/12883_2024_3821_Fig1_HTML.jpg

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