PT  - JOURNAL ARTICLE
AU  - Thiex, R.
AU  - Mulliken, J.B.
AU  - Revencu, N.
AU  - Boon, L.M.
AU  - Burrows, P.E.
AU  - Cordisco, M.
AU  - Dwight, Y.
AU  - Smith, E.R.
AU  - Vikkula, M.
AU  - Orbach, D.B.
TI  - A Novel Association between <em>RASA1</em> Mutations and Spinal Arteriovenous Anomalies
AID  - 10.3174/ajnr.A1907
DP  - 2010 Apr 01
TA  - American Journal of Neuroradiology
PG  - 775--779
VI  - 31
IP  - 4
4099  - http://www.ajnr.org/content/31/4/775.short
4100  - http://www.ajnr.org/content/31/4/775.full
SO  - Am. J. Neuroradiol.2010 Apr 01; 31
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