Related Experiment Video
Updated: Jun 5, 2025
A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
RETINAL RACEMOSE HEMANGIOMA ASSOCIATED WITH INTRACRANIAL VASCULAR MALFORMATION (WYBURN-MASON SYNDROME)
Susan D Arredondo-Cardona1, Natalia Contreras-Duque1, Alexander M Martínez-Blanco1
1Vision and Ocular Health Research Group (VISOC)/Vision and Ocular Health Research Group (VISOC), Ophthalmology Service, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Purpose:
To describe a case of Wyburn-Mason syndrome in a young child with initially declined treatment leading to delayed intervention.
Methods:
Case report.
Results:
We report a 6-year-old boy with mild periocular trauma after a fall, who was incidentally found to have a retinal arteriovenous malformation associated with a brain arteriovenous malformation, indicative of Wyburn-Mason syndrome. The patient's visual examination was unremarkable except for a visual acuity of 20/150 in the right eye, corrected to 20/60, and 20/30 in the left eye, along with mild proptosis and facial asymmetry. Radiosurgical management was proposed but declined by the caregivers because of fear of complications. Eighteen months later, the patient presented with neurologic deterioration, manifesting as left hemiparesis. The patient received antiangiogenic therapy with sirolimus (inhibitor of the mammalian target of rapamycin) and underwent a catheter-based embolization procedure that partially occluded the brain arteriovenous malformation without complications. The patient showed partial recovery of strength but experienced a deterioration in visual acuity in the right eye to 20/400.
Conclusion:
This report highlights an extremely rare malformation that associates ocular and cerebral vascular malformations. It underscores the importance of correlating various signs and symptoms to suspect it and emphasizes the need for adherence and follow-up.
