Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature
Abstract
Background: Multiple Sclerosis (MS) is sometimes 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 literature and all available databases for CADASIL cases with clinical or radiological features suggestive of MS.
Results: We reported two CADASIL cases misdiagnosed as MS. The review identified 12 reports describing 19 cases with CADASIL and inflammatory or MS-like features. The most prevalent features were sensory manifestations (76.2%), followed by motor manifestations (71.4%), gait imbalance (66.7%) and migraine (61.9%). Majority of the patients (90.5%) had either small vessel disease, demyelinating lesions, or both. Our cases shared these predominant features.
Conclusion: CADASIL may occasionally present with MS like inflammatory features, . The term "inflammatory CADASIL" can be considered when such red flags are present in atypical MS patients. Genetic testing is imperative for suspected CADASIL.
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Evidence Hub reads this as a systematic review, done in people. Its evidence level is 1 of 5 (Highest · pooled evidence). Pooled evidence from several studies sits at the top of the evidence pyramid.
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