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

Abstract

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