A novel association between RASA1 mutations and spinal arteriovenous anomalies.
OBJECTIVE
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.


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.
Thiex
R
R
Department of Neurointerventional Radiology, Children's Hospital Boston, Harvard Medical School, Massachusetts 02115, USA.
Mulliken
J B
JB
Revencu
N
N
Boon
L M
LM
Burrows
P E
PE
Cordisco
M
M
Dwight
Y
Y
Smith
E R
ER
Vikkula
M
M
Orbach
D B
DB
D000328:Adult; D000792:Angiography; D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004621:Embolization, Therapeutic; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics*; D005838:Genotype; D018324:Hemangioma, Capillary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008866:Microsurgery; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009460:Neurologic Examination; D011183:Postoperative Complications / Q000175:diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013116:Spinal Cord / Q000098:blood supply*; D013117:Spinal Cord Compression / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D055815:Young Adult; D020729:p120 GTPase Activating Protein / Q000235:genetics*
D020729:p120 GTPase Activating Protein