@article {Thiex775, author = {R. Thiex and J.B. Mulliken and N. Revencu and L.M. Boon and P.E. Burrows and M. Cordisco and Y. Dwight and E.R. Smith and M. Vikkula and D.B. Orbach}, title = {A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies}, volume = {31}, number = {4}, pages = {775--779}, year = {2010}, doi = {10.3174/ajnr.A1907}, publisher = {American Journal of Neuroradiology}, abstract = {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}, issn = {0195-6108}, URL = {https://www.ajnr.org/content/31/4/775}, eprint = {https://www.ajnr.org/content/31/4/775.full.pdf}, journal = {American Journal of Neuroradiology} }