Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old

Abstract

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has always been considered to be a middle-age-onset disease. Diagnosis is confirmed by genetic testing and the finding of the Notch3 mutation or by skin biopsy. Imaging plays a pivotal and crucial role in confirming this diagnosis by identifying white matter changes early in the disease. This can be useful in screening symptomatic patients with a family history of the disease. CADASIL cases have been reported recently in children. We report our experience with CADASIL in a 3-year-old boy.