Case Report: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: An Imaging Mimic of Multiple Sclerosis

Objective and Importance: To describe the imaging findings of two cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mimicking multiple sclerosis. Clinical Presentation and Intervention: Two cases presenting with neurological signs and symptoms were referred for magnetic resonance imaging (MRI) evaluation of the brain. Case 1 was a 36-year-old female patient presenting with recurrent headaches and recent onset numbness in the fingers of the right hand. Neurological examination showed a mild sensory deficit in the right hand. Case 2 was a 31-year-old female patient presenting with attacks of right-sided numbness of the face and body. The neurological examination revealed a sensory loss in the face and brisk deep tendon reflexes. Routine MRI sequences showed two types of lesions in both cases: ‘punctate’ hyperintense lesions on T2-weighted images (T2WI)/fluid-attenuated inversion recovery (FLAIR) images, hypointense on T1-weighted images (T1WI) and ‘diffuse’ white matter lesions, hyperintense on T2WI/FLAIR sequences and isointense to hypointense on T1WI. All lesions showed no contrast enhancement. Both cases were previously clinically and radiologically diagnosed as multiple sclerosis. There was a strong family history consistent with recurrent infarctions in other family members of both patients. Both cases were later diagnosed as CADASIL by skin biopsy/genetic linkage studies and follow-up. Conclusion:The cases showed that CADASIL causes stroke-like episodes in adults and can mimic multiple sclerosis on imaging. Clinical evaluation and MRI findings allow a differentiation of the two entities.