A Novel Mutation of the NOTCH3 Gene in A Young Patient Presenting with an Acute Stroke: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).

Abstract

This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline. Notably, our report highlights a novel genetic variant (C.3025T>C; p.Cys1009Arg) in the NOTCH3 gene linked to CADASIL, shedding light on its underlying pathogenesis. Furthermore, our patient exhibited unexpected white matter changes, challenging conventional age-related norms. These findings underscore the essential role of genetic testing and emphasize the potential diversity in CADASIL's clinical presentation. Further exploration is imperative to enhance our understanding of CADASIL and refine diagnostic strategies, thereby facilitating improved patient prognosis and management.

Learning points: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a significant cause of stroke in young patients, with stroke-related complications and cognitive impairment contributing to morbidity and mortality.Increasing awareness of CADASIL's clinical presentation and the availability of genetic testing has led to a rise in reported cases.CADASIL is caused by mutations in the NOTCH3 gene, primarily involving missense substitutions and leading to cysteine residue alterations.There have been many pathogenic variants reported around the world and some families might exhibit private pathogenic variants.