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

Area of Science:

• Ophthalmology
• Neurology
• Vascular Malformations

Background:

• Wyburn-Mason syndrome is a rare congenital condition characterized by arteriovenous malformations (AVMs) involving the retina, brain, and sometimes facial arteries.
• Early diagnosis and intervention are crucial for managing potential neurological and visual complications.

Purpose of the Study:

• To describe a pediatric case of Wyburn-Mason syndrome.
• To highlight the consequences of delayed treatment due to declined initial intervention.

Main Methods:

• This study is a case report of a 6-year-old boy.
• The case involved incidental findings of retinal and brain AVMs.

Main Results:

• The patient presented with periocular trauma and was diagnosed with Wyburn-Mason syndrome.
• Initial radiosurgical management was declined, leading to neurological deterioration (hemiparesis) 18 months later.
• Treatment with sirolimus and embolization resulted in partial neurological recovery but worsened visual acuity in one eye.

Conclusions:

• Wyburn-Mason syndrome is an extremely rare condition associating ocular and cerebral vascular malformations.
• Correlating clinical signs is vital for suspecting this syndrome.
• Patient and caregiver adherence to recommended follow-up and treatment is critical for optimal outcomes.