Campos A, Sharma R, Teh D, et al. Wyburn-Mason syndrome. Reference article, Radiopaedia.org (Accessed on 21 Feb 2025) https://radiopaedia.org/articles/2296
Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is classified as a cerebrofacial arteriovenous metameric syndrome (CAMS)3,4.
A 12-year-old boy presents with reduced visual acuity and during workup has an MRI. The right optic nerve is expanded all the way back to the chiasm which is also enlarged. Given the likely diagnosis, what is the most likely underlying condition?
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3. Lee AW, Chen CS, Gailloud P et-al. Wyburn-Mason syndrome associated with thyroid arteriovenous malformation: a first case report. AJNR Am J Neuroradiol. 28 (6): 1153-4. doi:10.3174/ajnr.A0512 - Pubmed citation
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6. So J, Mishra C, Holman R. Wyburn-Mason Syndrome. 2024. - Pubmed