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Cerebrofacial venous metameric syndrome—spectrum of imaging findings

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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.

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No funding was received for this study.

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Authors and Affiliations

  1. Division of Neuroradiology, Joint Department of Medical Imaging, Toronto Western Hospital, UHN, University of Toronto, Toronto, Ontario, Canada

    Waleed Brinjikji, Patrick Nicholson, Christopher A Hilditch, Timo Krings, Vitor Pereira & Ronit Agid

  2. Mayo Clinic, 200 1st Street SW, Rochester, MN, 55905, USA

    Waleed Brinjikji

Authors
  1. Waleed Brinjikji
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  2. Patrick Nicholson
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  3. Christopher A Hilditch
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  4. Timo Krings
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  5. Vitor Pereira
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  6. Ronit Agid
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Correspondence to Waleed Brinjikji.

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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.

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Brinjikji, W., Nicholson, P., Hilditch, C.A. et al. Cerebrofacial venous metameric syndrome—spectrum of imaging findings. Neuroradiology 62, 417–425 (2020). https://doi.org/10.1007/s00234-020-02362-7

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  • DOI: https://doi.org/10.1007/s00234-020-02362-7

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