CADASIL as Multiple Sclerosis Mimic: A 48-year-old man with severe leukoencephalopathy and spinal cord involvement

Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a common cause of inherited stroke in young adults. CADASIL causes extensive white matter T2 hyperintensities at brain MRI, in particular involving anterior-temporal lobes and external capsules; usually, there is no spinal cord involvement. Since CADASIL clinical spectrum is heterogeneous and MRI findings are sometimes not specific, Multiple Sclerosis (MS) represents a frequent CADASIL misdiagnosis. Herein, we describe the case of a 48-year-old man affected by CADASIL and referred to our clinic with an initial diagnosis of secondary progressive MS because of diffuse leukoencephalopathy and spinal cord lesions at MRI.

Keywords: CADASIL; Leukoencephalopathy; Multiple Sclerosis; Spinal cord lesion.