RETINAL RACEMOSE HEMANGIOMA ASSOCIATED WITH INTRACRANIAL VASCULAR MALFORMATION (WYBURN-MASON SYNDROME).

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.