Research in the UAE

CADASIL Misdiagnosed as Multiple Sclerosis

Published on Mon, 26 Jun 2023

A Case Report of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Misdiagnosed as Multiple Sclerosis

This case report discusses a 43-year-old male initially misdiagnosed with multiple sclerosis due to recurrent neurological deficits, mental slowing, and task difficulties. CADASIL, a rare genetic small vessel disease caused by a NOTCH3 mutation, was confirmed through genetic testing, supported by MRI findings and family history. The overlap of symptoms like stroke, migraines, and neurological decline underscores the need for thorough evaluation in atypical MS cases to prevent misdiagnosis and ensure accurate treatment.

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