Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A New Concept and a New Classification.

SUMMARY: The diagnosis of Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome encompasses a spectrum of phenotypic expression. Features of the syndrome as originally described, and common to all, include arteriovenous malformations of the brain and orbit (with retinal and/or retrobulbar lesions). A portion of these patients manifest the complete expression of the disease with additional high-flow arteriovenous malformations of the maxillofacial or mandibular regions. These present the distinct and additional risks of lifethreatening epistaxis or gingival haemorrhage. We suggest new diagnostic criteria for the syndrome. Applying insights from modern developmental biology to our series of 15 patients (the largest to date), together with a review of the literature, we have recognised metameric patterns of involvement in what we believe to be a disease of the neural crest or adjacent cephalic mesoderm. This allows us to propose a new rational classification reflecting the putative, underlying disorder and to suggest a new name: Cerebrofacial Arteriovenous Metameric Syndrome (CAMS).