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Published on: September 19, 2019
[Wyburn-Mason syndrome]
Gh Munteanu1, Stela Giuri, M Munteanu
1Clinica Oftalmologică, Timişoara.
Introduction:
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.
Case Report:
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.
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