AI Article Synopsis
- The Wyburn-Mason syndrome is a rare congenital condition characterized by malformations of retinal, orbito-cerebral, and occasionally facial vessels.
- A 19-year-old male patient presented with severe vision loss and bulging of the left eye, revealing extensive retinal and orbital vessel malformations through various imaging techniques.
- Diagnosis of Wyburn-Mason syndrome is suggested in cases with facial angiomas, eye bulging, or poor eyesight, and requires further imaging for confirmation.
Article Abstract
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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