Deletion of 6p25.3 is associated with cerebrovascular dolichoectasia: Report of 2 cases

Abstract

Developmental dolichoectasia of the intracranial vessels is a rare occurrence. The authors report 2 sibling pediatric patients who were born with 6p25.3 deletion, associated with carotid and vertebrobasilar dolichoectasia. MRI imaging of both children showed asymptomatic elongation and dilation of the vertebrobasilar system and "kissing" carotid arteries. A microarray analysis was also performed for both patients, which identified a 1.5-Mb deletion of 6p25.3 covering 15 genes including FOXC1, which has been implicated in defects in vascular morphogenesis.