Abstract
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 NOTCH gene of which several specific point mutations have been identified We report a year old female with a confirmed CADASIL diagnosis an atypical presentation and an unreported NOTCH 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 NOTCH testing which showed a pathogenic p Arg Cys mutation and a previously unreported p Pro Leu mutation
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