Cerebrofacial arteriovenous metameric syndrome

Last revised by Yuranga Weerakkody on 12 Apr 2018

Cerebrofacial arteriovenous metameric syndrome (CAMS) encompasses maxillofacial/intracranial vascular malformation complexes including Wyburn-Mason Syndrome and Sturge-Weber syndrome 1-4. Three types are described depending on location 2,6:

  • CAMS I: medial prosencephalic group with involvement of nose and hypothalamus
  • CAMS II: lateral prosencephalic group with involvement of occipital lobe, optic chiasma, optic tract, thalamus, retina and maxilla
  • CAMS III: rhombencephalic group with involvement of cerebellum, pons and mandible

An intracranial and maxillofacial component are both required for diagnosis 1.

The term "craniofacial" has been erroneously perpetuated in the literature and does not correctly account for the intracranial metameric component.

CAMS are rare disease constituting 0.5% of all cerebral vascular malformations. There is no sex predominance seen in the studies. 

The symptoms occur in childhood. The most common presenting symptoms include progressive visual loss, progressive neurological deficit and hemorrhage (e.g. bleeding from the teeth and gums). Cosmetic complains are also common (e.g. facial asymmetry) 5,7. Seizures are uncommon presenting features.

The neural crest and mesoderm cells originating from a given axial level contribute to same facial regions. The region of anterior lip of the neural plate contains the angle of the hypothalamus and skin of future nasal region, whereas the anterior rhombencephalic neural crest is associated with the mandible. 

Cerebral nidal AVMs with intervening normal brain tissue and the optic pathway is a common finding. Lesions are classically multifocal with an extension from the calcarine fissure to the retina.

Patients with hypothalamic AVM should be investigated for nasal AVM, whereas patients harboring AVMs of the diencephalon and occipital lobe should be looked for maxillary vascular malformations and patients with cerebellar AVMs should be investigated for mandibular AVMs also.

Embolization or microsurgery, as independent or synergistic treatments, may be curative in a minority of patients. However, most malformations of this complexity possess extensive collateral angioarchitecures and are incurable by either means.


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