Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited and autosomal dominant arteriopathy of the cerebral vasculature, which is commonly misdiagnosed due to its different modes of presentation. It is characterized by variable manifestations of ischemic episodes, migraine with aura, cognitive deficits, and psychiatric disturbances. CADASIL is caused by a genetic mutation in the NOTCH3 gene, which is present on chromosome 19. The diagnosis of CADASIL can be made by personal and family history, skin biopsy, and magnetic resonance imaging (MRI) of the head showing high-intensity signal lesions, microbleeds, and white matter changes. There are currently no disease-modifying therapies available for CADASIL, and management focuses on reducing risk factors such as diabetes and hypertension and control of symptoms. We present a rare cause of transient ischemic attack (TIA) in a young female who was later diagnosed with CADASIL and aim to highlight rare and inherited causes of TIA and strokes in younger patients.

Keywords: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil); leukoencephalopathy; migraine; notch 3 gene; stroke; stroke in young patients.