4.

4. Laryngoscope, 128:456-460, 2018.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease that commonly presents with ischemic episodes, cognitive deficits, migraine with aura, and psychiatric disturbances. It is caused by mutations in the NOTCH3 gene of which several specific point mutations have been identified. We report a 59-year-old female with a confirmed CADASIL diagnosis, an atypical presentation, and an unreported NOTCH3 mutation. She presented with stroke-like symptoms and MRI was initially read as several subacute infarcts throughout the brain. She denied any history of headaches. A review of her imaging suggested CADASIL as a more likely diagnosis. She underwent NOTCH3 testing, which showed a pathogenic p.Arg141Cys mutation and a previously unreported p.Pro68Leu mutation.