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CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

Behr, Gerald G.; Liberman, Leonardo; Compton, Jocelyn Traina; Garzon, Maria C.; Morel, Kimberly D.; Lauren, Christine T.; Starc, Thomas J.; Kovacs, Stephen; Beltroni, Vincent; Landres, Rachel; Anyane-Yeboa, Kwame; Meyers, Philip M.; Bacha, Emile; Kandel, Jessica J.

Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected. A novel flow reduction strategy was employed to a large AVM affecting the patient’s upper limb. The imaging findings, surgical procedure and patient’s improved post-operative state are described.

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Also Published In

Title
Vascular Cell
DOI
https://doi.org/10.1186/2045-824X-4-19

More About This Work

Academic Units
Radiology
Pediatrics
Dermatology
Publisher
BioMed Central
Published Here
September 8, 2014

Notes

CM-AVM, RASA 1, Parkes-Weber, Port wine stain, Vascular malformation