Retinal Racemosal Hemangioma Associated with Intracranial Vascular Malformation (Wyburn -Mason Syndrome) - Case Report.

Purpose: To describe a case of Wyburn-Mason syndrome in a young child with initially declined treatment leading to delayed intervention.

Methodology: Case report.

Results: We report a 6-year-old boy with mild periocular trauma following a fall, who was incidentally found to have a retinal arteriovenous malformation (AVM) associated with a brain AVM, indicative of Wyburn-Mason Syndrome. The patient's visual exam 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 due to fear of complications. Eighteen months later, the patient presented with neurological deterioration, manifesting as left hemiparesis. The patient received antiangiogenic therapy with sirolimus (inhibitor of the mammalian target of rapamycin, mTOR) and underwent a catheter-based embolization procedure that partially occluded the brain AVM 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.