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- Title
Cerebrofacial venous metameric syndrome—spectrum of imaging findings.
- Authors
Brinjikji, Waleed; Nicholson, Patrick; Hilditch, Christopher A; Krings, Timo; Pereira, Vitor; Agid, Ronit
- 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.
- Subjects
BLOOD-vessel abnormalities; COMPUTED tomography; DIAGNOSTIC imaging; HEMANGIOMAS; MAGNETIC resonance imaging; GENETIC mutation; NEURORADIOLOGY; STURGE-Weber syndrome; PHENOTYPES; CRANIOFACIAL abnormalities; CAVERNOUS hemangioma
- Publication
Neuroradiology, 2020, Vol 62, Issue 4, p417
- ISSN
0028-3940
- Publication type
Article
- DOI
10.1007/s00234-020-02362-7