Khan Ayesha, Abedi Vida, Li Jiang, Malik Muhammad T, Esch Megan, Zand Ramin
Geisinger Neuroscience Institute, Geisinger Health System, Danville, PA, United States.
Department of Molecular and Functional Genomics, Weis Center for Research, Geisinger Health System, Danville, PA, United States.
Front Neurol. 2020 Sep 4;11:860. doi: 10.3389/fneur.2020.00860. eCollection 2020.
Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is the most common form of hereditary stroke caused by a mutation in the gene located on the short arm of chromosome 19. A small number of published reports describe CADASIL patients who were initially diagnosed as multiple sclerosis. Although it was previously indicated that there was no association between mutations and multiple sclerosis, the involvement of autoimmune mechanisms among patients with CADASIL has been hypothesized. Case 1 is a middle-aged woman with initial diagnoses of multiple sclerosis (MS) and myelitis that continued to progress despite treatment with disease-modifying agents. She had occasional migraines, transient blurred vision, and multiple lacunar infarcts. She continued treatment for about 15 years with no significant alleviation and progressive changes on brain MRI; genetic testing was ordered which showed mutation, and diagnosis was changed to CADASIL with subsequent revision of treatment course. However, the presence of myelitis in this patient is unusual and may raise the question of a concurrent autoimmune process. Case 2 is a woman presenting with vertigo and paresthesia and diagnosed with MS based on an initial brain MRI showing biventricular white matter hyperintensities; however, she was not started on any disease-modifying agents. Her symptoms were reevaluated by a neurologist, and genetic testing was performed for . Case 3 is a young woman with a history of migraines who initially presented with numbness and gait ataxia which later progressed to speech difficulty and memory loss. A diagnosis of MS was established which was later changed to CADASIL. Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of gene mutations in provoking an autoimmune process should be further investigated.
大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病（CADASIL）是由位于19号染色体短臂上的基因突变引起的最常见的遗传性卒中形式。少数已发表的报告描述了最初被诊断为多发性硬化症的CADASIL患者。尽管之前表明该基因突变与多发性硬化症之间没有关联，但有人推测CADASIL患者存在自身免疫机制。病例1是一名中年女性，最初诊断为多发性硬化症（MS）和脊髓炎，尽管使用了疾病修正药物治疗，但病情仍持续进展。她偶尔出现偏头痛、短暂性视力模糊和多发性腔隙性梗死。她持续治疗了约15年，病情无明显缓解，脑MRI有进行性改变；进行基因检测显示该基因突变，诊断改为CADASIL，随后调整了治疗方案。然而，该患者出现脊髓炎并不常见，可能会引发关于并发自身免疫过程的问题。病例2是一名出现眩晕和感觉异常的女性，基于最初脑MRI显示双侧脑室白质高信号而被诊断为MS；然而，她未开始使用任何疾病修正药物。一名神经科医生对她的症状进行了重新评估，并进行了该基因的检测。病例3是一名有偏头痛病史的年轻女性，最初表现为麻木和步态共济失调，后来进展为言语困难和记忆力减退。最初诊断为MS，后来改为CADASIL。由于CADASIL是一种罕见疾病，必须提高对其独特临床情况及其临床表现变异的认识。彻底检查MS和CADASIL之间的重叠症状以避免误诊和治疗并发症至关重要。应进一步研究CADASIL中自身免疫机制的参与情况以及该基因突变在引发自身免疫过程中的作用。
