Schiess N, Huether K, Szolics M, Agarwal G, El-Hattab A W, Sathe S
Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD, United States; Department of Neurology, Tawam Hospital, Al Ain, United Arab Emirates.
Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD, United States.
Clin Neurol Neurosurg. 2018 Oct;173:196-199. doi: 10.1016/j.clineuro.2018.01.035. Epub 2018 Feb 8.
Multiple sclerosis (MS) and CADASIL presenting together is exceedingly rare. As more cases of "inflammatory" CADASIL emerge, diagnostic challenges for clinicians increase. We report an individual with MS and CADASIL presenting with cognitive decline at age 25. She presented with gadolinium enhancing lesions on MRI and inflammatory cerebrospinal fluid raising the question of whether these patients should be given a diagnosis of "inflammatory CADASIL" or both MS and CADASIL.
A literature review was conducted on reports of inflammatory CADASIL or MS and CADASIL, clinical presentations including spinal cord lesions and CSF inflammatory markers.
Nine cases in the literature of individuals with CADASIL and inflammatory presentations were found with treatment varying from intravenous steroids to MS immunomodulatory therapy.
If individuals with CADASIL present with immune mediated inflammatory components they may benefit from immunomodulatory therapy. This is discussed with a review of the inflammatory CADASIL/MS cases in the literature and report of a case.
多发性硬化症（MS）与伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）同时出现极为罕见。随着越来越多“炎症性”CADASIL病例的出现，临床医生面临的诊断挑战也在增加。我们报告了一名25岁患有MS和CADASIL且出现认知功能下降的个体。她的磁共振成像（MRI）显示钆增强病变，脑脊液呈炎症性，这就引发了一个问题，即这些患者应被诊断为“炎症性CADASIL”，还是同时患有MS和CADASIL。
对有关炎症性CADASIL或MS与CADASIL的报告、包括脊髓病变和脑脊液炎症标志物在内的临床表现进行了文献综述。
在文献中发现了9例患有CADASIL且有炎症表现的个体病例，其治疗方法从静脉注射类固醇到MS免疫调节疗法不等。
如果CADASIL患者出现免疫介导的炎症成分，他们可能会从免疫调节治疗中受益。本文通过回顾文献中的炎症性CADASIL/MS病例及报告一个病例对此进行了讨论。
