CADASIL Masquerading as Multiple Sclerosis: A Case Report with Atypical Presentation and Uncharacteristic Neuroimaging Findings

Autosomal dominant cerebral arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL) is a genetic vascular disorder that is clinically characterized by migraine, (TIA) and cognitive deficits and is caused by mutations in the NOTCH3 gene. transient ischemic attacks.

Case Report: 

The presented case is a patient with magnetic resonance imaging (MRI) and atypical clinical findings, which was mistakenly diagnosed as multiple sclerosis (MS) for several years, the patient was referred to our service due to recurrent neurological deficits. MRI examinations and gene analysis were done for them. MRI showed extensive hyperintensity in T2 and fluid-attenuated inversion recovery (FLAIR) and multiple small hemorrhages in susceptibility-weighted imaging (SWI) in the periventricular region, external capsule, and anterior temporal lobe. The diagnosis of CADASIL was confirmed by genetic analysis of the NOTCH3 gene. Once CADASIL was confirmed, MS-related treatments were discontinued.

The presented case highlights the importance of careful evaluation of clinical findings and neuroimaging in suspected MS patients and emphasizes the importance of CADASIL as an overlooked differential diagnosis.