RT Journal Article SR Electronic T1 A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies JF American Journal of Neuroradiology JO Am. J. Neuroradiol. FD American Society of Neuroradiology SP 775 OP 779 DO 10.3174/ajnr.A1907 VO 31 IS 4 A1 R. Thiex A1 J.B. Mulliken A1 N. Revencu A1 L.M. Boon A1 P.E. Burrows A1 M. Cordisco A1 Y. Dwight A1 E.R. Smith A1 M. Vikkula A1 D.B. Orbach YR 2010 UL http://www.ajnr.org/content/31/4/775.abstract AB BACKGROUND AND PURPOSE: CM-AVM is a recently recognized autosomal dominant disorder associated with mutations in RASA1. Arteriovenous lesions have been reported in the brain, limbs, and the face in 18.5% of patients. We report a novel association between RASA1 mutations and spinal arteriovenous anomalies. MATERIALS AND METHODS: In a collaborative study, 5 index patients (2 females, 3 males) with spinal AVMs or AVFs and cutaneous multifocal capillary lesions were investigated for the RASA1 gene mutation. RESULTS: All 5 patients were found to have RASA1 mutation (2 de novo, 3 familial), and all had multifocal capillary malformations at birth. Neurologic deficits developed at ages ranging from infancy to early adulthood. All spinal anomalies (2 AVMs at the conus, 1 AVM at the lumbosacral junction, and 1 cervical and 1 cervicothoracic AVF) were complex, extensive, and fast-flow lesions. All patients required treatment based on the clinical and/or radiologic appearance of the lesions. CONCLUSIONS: To our knowledge, an association of RASA1 mutation and spinal AVM/AVF has not been described. MR imaging screening of patients with characteristic CMs and neurologic symptoms presenting at a young age may be useful in detecting the presence of fast-flow intracranial or intraspinal arteriovenous anomalies before potentially significant neurologic insult has occurred. ASAanterior spinal arteryAVFarteriovenous fistulaAVMarteriovenous malformationCMcapillary malformationGTPguanosine 5′-triphosphateHHThereditary hemorrhagic telangiectasian-BCAn-butyl 2-cyanoacrylateRrightSWSSturge-Weber syndrome