1990 Volume 18 Issue 4 Pages 468-481
The Wyburn-Mason Syndrome is a rare congenital anomaly, consisting of arteriovenous malformations involving the retina and midbrain, and occasionally subcutaneous facial structures. This malformation is also called Bonnet-Dechaume-Blanc syndrome or faciomesodiencephalic angiomatosis. We have experienced 3 cases of Wyburn-Mason syndrome during the past 20 years.
Case 1: A 14-year-old boy suddenly suffered from headache and vomiting. A CT-scan and spinal tap revealed a subarachnoid hemorrhage. A huge AVM was demonstrated in the right basal ganglia, extending to the midbrain. Retinal AVM and facial angioma were found on the right side. He was treated conservatively, and is working now with no deficits. Case 2: A 16-year-old female suffered from headache and left hemiparesis. A huge AVM was demonstrated in the left basal ganglia, extending to the midbrain. Retinal AVM and facial angioma were found in her left side. She was treated with radiotherapy but her neurological deficits gradually became worse. Case 3: A 9-year-old boy suffered from headache, anorexia and lethalgia. A huge AVM was demonstrated in the chiasmatic region, extending to the bilateral hypothalamus, the basal ganglia, and the right orbit. A retinal AVM and a facial angioma with bruit were found. He went into a coma and died 8 days after admission. At autopsy, an AVM was found in the bilateral basal ganglia, extending to the cerebral peduncles and appeared as a spongy mass with small sized vessels. Microscopically, the AVM mainly consisted of dilated and thickened venous channels. The authors have collected previous reports of 43 cases throughout the world, including our 3, and analysed them.