Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) in a 25-Year-Old Patient: A Case Report

TL;DR

A 25-year-old patient was diagnosed with CADASIL, a rare genetic brain disorder, through clinical and genetic analysis.

Contribution

This case report highlights the early diagnosis of CADASIL in a young patient initially suspected of having meningoencephalitis.

Findings

CADASIL was confirmed in a 25-year-old patient using clinical, imaging, and genetic methods.

Early detection of CADASIL is crucial for effective management and preventing cognitive decline.

The case underscores the importance of considering rare genetic disorders in young patients with neurological symptoms.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder caused by mutations in the NOTCH3 gene, resulting in subcortical infarctions and leukoencephalopathy. It predominantly affects the brain's small blood arteries, resulting in repeated ischemic episodes including transient ischemic attacks and strokes leading to cognitive impairment and mental symptoms. We provide a case study of a 25-year-old patient suspected of having meningoencephalitis. CADASIL was diagnosed based on clinical examination, imaging investigations, and genetic analysis. Optimal patient care for this complicated illness requires early detection and proper management.

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