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Cerebrofacial venous metameric syndrome—spectrum of imaging findings

  • Waleed BrinjikjiEmail author
  • Patrick Nicholson
  • Christopher A Hilditch
  • Timo Krings
  • Vitor Pereira
  • Ronit Agid
Review

Abstract

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or “metameric” distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide spectrum of CVMS phenotypical presentations exist with various metameric distributions of slow-flow vascular lesions including facial venous vascular malformations, developmental venous anomalies, venous angiomas, cavernous malformations (cavernomas), dural sinus malformations, and maybe even vascular tumors such as cavernous hemangiomas. Awareness of the various manifestations as described herewith is important for treatment and screening purposes.

Keywords

Venous vascular malformations Developmental venous anomaly Cavernous malformations Hemangioma Sturge-Weber Congenital 

Notes

Funding information

No funding was received for this study.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from individual participants in this study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Division of Neuroradiology, Joint Department of Medical Imaging, Toronto Western Hospital, UHNUniversity of TorontoTorontoCanada
  2. 2.Mayo ClinicRochesterUSA

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