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Wyburn-Mason Syndrome: A Narrative Review
Yasmin Shameem1, Saleha Irshad1, Nimrah Mirza1
1Paediatrics, Anglia Ruskin University, Chelmsford, GBR.
Cureus
|September 30, 2024
Summary
Wyburn-Mason syndrome, a rare congenital condition, involves arteriovenous malformations (AVMs) in the retina and brain. Management is often conservative, but intervention is considered for high-risk intracranial AVMs.
Area of Science:
- Vascular Medicine
- Ophthalmology
- Neurology
Background:
- Wyburn-Mason syndrome is a rare congenital disorder.
- Characterized by arteriovenous malformations (AVMs) in the retina, brain, and skin.
- Results from embryonic vascular abnormalities with diverse clinical presentations.
Purpose of the Study:
- To review the diagnosis, management, and treatment of Wyburn-Mason syndrome.
- To highlight the importance of a multidisciplinary approach.
- To discuss emerging therapeutic strategies.
Main Methods:
- Review of existing literature on Wyburn-Mason syndrome.
- Emphasis on diagnostic imaging techniques like OCT and cerebral angiography.
- Discussion of conservative and interventional management strategies.
Main Results:
- Wyburn-Mason syndrome presents with a wide spectrum of severity, classified into three groups.
- Diagnosis relies on imaging; OCT and cerebral angiography are key.
- Conservative management is typical, with intervention for AVMs exceeding a 2.2% annual rupture risk.
Conclusions:
- A multidisciplinary approach involving ophthalmologists, neurologists, and interventional radiologists is crucial.
- Regular monitoring of asymptomatic AVMs is essential for optimal outcomes.
- Emerging therapies offer new treatment avenues for Wyburn-Mason syndrome.
