Cerebrofacial venous metameric syndrome type 2+3: face is the index of brain

Abstract

We describe a rare case of a 20-year-old man who presented with an extensive facial and orbital venous malformation associated with multiple intracranial venous malformations. The co-existence of cerebrofacial venous malformations points towards a common final pathway in development of these malformations. Our findings are consistent with few previous similar case descriptions. In addition, we describe some novel observations which, to the best of our knowledge, have not been described in the literature. This case reinforces the concept of metameric and segmental distribution of cerebrofacial vasculature, and the aberrations thereof leading to the metameric venous malformations, as proposed by Lasjaunias et al.

Keywords

• Venous malformation
• Developmental venous anomaly
• Neural crest
• Metamere