# Early Stroke in a Young Male: Could it be Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)?

## TL;DR

A young man experienced a stroke, and doctors considered CADASIL, a rare genetic disorder linked to brain blood vessel issues.

## Contribution

This case emphasizes the importance of diagnosing CADASIL in young stroke patients with specific brain imaging features.

## Key findings

- The patient showed acute infarct and white matter changes consistent with CADASIL.
- CADASIL was considered despite elevated blood pressure suggesting alternative stroke causes.
- MRI findings supported the need to evaluate CADASIL in young stroke cases with persistent symptoms.

## Abstract

A man in his early 40s presented with a sudden-onset headache, slurred speech, drooling, and a transient left-sided facial droop, which resolved within a few hours. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare monogenic hereditary cerebrovascular disorder that can cause stroke in adults due to mutations in the NOTCH3 gene and is associated with characteristic white matter changes on imaging (the “NOTCH” part of the gene name is derived from the Drosophila melanogaster notched wing mutant, and “3” signifies that it is the third discovered human homologue). The presence of elevated blood pressure raised questions regarding an alternative etiology for stroke. Therefore, he was referred to the accident and emergency department for further evaluation, including an MRI of the brain, which showed an acute infarct with periventricular white matter changes involving the right internal capsule. This report highlights the importance of considering CADASIL as an underlying cause of stroke in patients with persistent symptoms and characteristic white matter changes.