Novel Insights from Clinical Practice Pediatr Neurosurg Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases Kathryn N. Kearns Kaan Yagmurlu Ching-Jen Chen John Jane Jr. Min S. Park M. Yashar S. Kalani Department of Neurosurgery, University of Virginia, Charlottesville, VA, USA Received: September 11, 2018 Accepted after revision: January 21, 2019 Published online: March 19, 2019 M. Yashar S. Kalani, MD, PhD Associate Professor of Neurosurgery and Director of Skull Base Surgery Department of Neurosurgery, University of Virginia School of Medicine PO Box 800212, Charlottesville, VA 22908 (USA) E-Mail kalani @virginia.edu © 2019 S. Karger AG, Basel E-Mail karger@karger.com www.karger.com/pne Established Facts • 6p25 microdeletion including the FOXC1 gene can produce a myriad of phenotypes from dysmorphic facial features to congenital heart disease. • Vascular phenotypes with this deletion have not been reported. Novel Insights • Presentation of 2 siblings with 6p25.3 deletions including the FOXC1 gene with vertebrobasilar doli- choectasia and kissing carotid arteries. • FOXC1 deletion may result in vascular redundancy and dysplasia. DOI: 10.1159/000497148 Keywords Microdeletion · Vascular redundancy · Dolichoectasia · Pediatric patients · Development Abstract Developmental dolichoectasia of the intracranial vessels is a rare occurrence. The authors report 2 sibling pediatric pa- tients who were born with 6p25.3 deletion, associated with carotid and vertebrobasilar dolichoectasia. MRI imaging of both children showed asymptomatic elongation and dila- tion of the vertebrobasilar system and “kissing” carotid arter- ies. A microarray analysis was also performed for both pa- tients, which identified a 1.5-Mb deletion of 6p25.3 covering 15 genes including FOXC1, which has been implicated in de- fects in vascular morphogenesis. © 2019 S. Karger AG, Basel Introduction Arterial dolichoectasia has a prevalence of approxi- mately 0.08–6.5% in the general population [1]. The prev- alence of developmental dolichoectasia is unknown and the genetic drivers predisposing to development of vas- cular ectasia in children is largely unexplored [2]. Downloaded by: Univ.of Adelaide 129.127.145.240 - 3/22/2019 5:51:02 AM