Cerebrofacial venous metameric syndrome—spectrum of imaging findings

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

Research output: Contribution to journalReview article

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.

Original languageEnglish (US)
JournalNeuroradiology
DOIs
StateAccepted/In press - Jan 1 2020

Fingerprint

Vascular Malformations
Cavernous Hemangioma
Blood Vessels
Sturge-Weber Syndrome
Neural Crest
Bone and Bones
Mutation
Brain
Neoplasms
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine

Cite this

Brinjikji, W., Nicholson, P., Hilditch, C. A., Krings, T., Pereira, V., & Agid, R. (Accepted/In press). Cerebrofacial venous metameric syndrome—spectrum of imaging findings. Neuroradiology. https://doi.org/10.1007/s00234-020-02362-7

Cerebrofacial venous metameric syndrome—spectrum of imaging findings. / Brinjikji, Waleed; Nicholson, Patrick; Hilditch, Christopher A.; Krings, Timo; Pereira, Vitor; Agid, Ronit.

In: Neuroradiology, 01.01.2020.

Research output: Contribution to journalReview article

Brinjikji, Waleed ; Nicholson, Patrick ; Hilditch, Christopher A. ; Krings, Timo ; Pereira, Vitor ; Agid, Ronit. / Cerebrofacial venous metameric syndrome—spectrum of imaging findings. In: Neuroradiology. 2020.
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