Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of literature

Abstract Background: Multiple Sclerosis (MS) is frequently misdiagnosed in people with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to discuss two CADASIL patients who were misdiagnosed with MS and review the literature for similar cases. Methods : In addition to reporting our two cases, we searched the literatures and the whale available databases for any similar CADASIL case that showed features suggestive of MS. Results: In this study we discuss two cases were initially diagnosed as MS, however the clinical presentation and the genetic testing were consistent with CADASIL. We also reviewed additional previously-reported 19 cases and highlighted the common features that could help differentiating inflammatory CADASIL from MS. Conclusion CADASIL may present, clinically and radiologically, like MS with neurological manifestations but less stroke or cognitive impairment than conventional CADASIL. The term “inflammatory CADASIL” can be considered. Genetic testing is imperative for suspected CADASIL.