[Wyburn-Mason syndrome].
BACKGROUND
The Wyburn-Mason or Bonnet, Dechaume, and Blanc syndrome is a rare congenital anomaly formed of malformations of the retinal vessels, orbito-cerebral vessels, and, rarely, facial vessels.


METHODS
Male patient, 19 years old, examined because of a severe visual loss and exophthalmos at the left eye. The ophthalmoscopic examination reveals extensive retinal arterio-venous malformations, also confirmed at orbito-cerebral level by ultrasound and MRI DISCUSSION: The Wyburn-Mason syndrome is due to arterio-venous anastomosis, being included in the phakomatosis group. Clinically we describe 3 groups of severity. Aspects of differential diagnosis, pathogeny, and treatment are discussed.


CONCLUSIONS
The Wyburn-Mason syndrome can be suspected in cases of facial angioma, exophthalmos, or decreased visual acuity. The diagnosis imposes additional examinations with orbito-cerebral imagery.
Clinica Oftalmologică, Timişoara.
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G
Munteanu
Stela
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Giuri
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M
Munteanu
D000328:Adult; D001165:Arteriovenous Malformations; D005094:Exophthalmos / Q000209:etiology; D006801:Humans; D008297:Male; D009880:Ophthalmic Artery / Q000002:abnormalities*; D009887:Ophthalmoscopy; D012160:Retina / Q000002:abnormalities*; D012161:Retinal Artery / Q000002:abnormalities*; D013577:Syndrome; D014792:Visual Acuity