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

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.