Cerebrofacial arteriovenous metameric syndrome

Cerebrofacial arteriovenous metameric syndrome (CAMS), also known as Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome in certain presentations, is a rare, non-hereditary vascular disorder characterized by arteriovenous malformations (AVMs) that affect the brain and face in a segmental (metameric) pattern. The condition arises from abnormal development of blood vessels during embryogenesis, following the embryonic vascular metameres of the head and face. CAMS is classified into several subtypes (CAMS 1, 2, and 3) depending on the specific metameric segment involved, with lesions potentially affecting the nose, upper jaw, orbit, retina, thalamus, frontal lobe, cerebellum, and other craniofacial structures. Key clinical features include facial vascular malformations (often visible as red or purple skin lesions), retinal arteriovenous malformations that can impair vision, and intracranial AVMs that may cause headaches, seizures, neurological deficits, or life-threatening hemorrhage. The orbital and retinal involvement can lead to progressive visual loss. Facial soft tissue and bony structures may also be affected, leading to asymmetry or disfigurement. Symptoms typically become apparent at birth or during childhood, though some manifestations may not be recognized until later. Treatment is multidisciplinary and largely symptomatic, as there is no cure. Management may include endovascular embolization of AVMs, neurosurgical intervention for intracranial lesions at risk of hemorrhage, ophthalmologic monitoring and treatment for retinal involvement, and laser therapy or surgical management of facial vascular lesions. Given the complexity and extent of the malformations, treatment decisions are individualized and require coordination among vascular neurosurgeons, interventional neuroradiologists, ophthalmologists, and dermatologists.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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