Craniofacial Vascular Malformations in Wyburn-Mason Syndrome

Abstract

Wyburn-Mason syndrome (WMS) is a rare syndrome associated with multiple arteriovenous malformations (AVMs) involving the orbit, brain and/or face. The purpose of this study was to analyze the imaging spectrums of craniofacial vascular malformations in 14 patients with WMS. The medical records of 14 patients with the diagnosis of WMS who underwent neuroimaging studies (computed tomography [CT], 8; magnetic resonance imaging [MRI], 12; conventional angiography, 14) were reviewed, emphasizing the location, extension and type of facial, orbital and brain vascular malformations. Complete WMS was defined as vascular malformations involving all the 3 zones of the face, orbit and brain, while partial WMS was considered as vascular malformation distributed in 2 zones. The craniofacial vascular malformations were confined on the left side in 7 patients, 2 were found on the right side, while the remaining other 5 patients had midline brain AVMs involving both sides. All but 1 of these 14 patients had orbital and/or brain AVMs; facial vascular malformations were documented in 5 patients. The most common site of involvement was the optic nerve (n = 12), followed by the retina (n = 10), optic chiasma/hypothalamus (n = 9), thalamus (n = 7), basal ganglion (n = 5), midbrain (n = 2), occipital lobe (n = 1), temporo-occipital lobe (n = 1) and fronto-temporo-parieto-occipital lobe (n = 1). The complete form of WMS was found in 2 patients and the partial form in 12. CT, MRI and conventional angiography have the capacity to demonstrate the extent of intracranial AVMs. However, MRI is superior to both CT and angiography for detecting the size, extent of AVMs and the effects of AVMs on adjacent brain. Conventional angiography is superior to both CT and MRI in determining the detailed angioarchitecture of AVMs. WMS has a wide spectrum of multiple AVMs involving unilateral or bilateral craniofacial regions. The most common involved site is the orbit, followed by the brain. WMS should be considered in patients with ocular AVMs associated with brain AVMs.