Wyburn-Mason Syndrome

Stefania Tomarchio, Anna Portale, Andrea D. Praticò, Stefano Catanzaro, Agata Polizzi, Giuseppe Belfiore, Concetta Pirrone, Carmelo Schepis, Elena Commodari, Elena R. Praticò, Antonio Zanghì, Martino Ruggieri, Orhan Konez

Research output: Contribution to journalReview articlepeer-review


Wyburn-Mason syndrome is a very rare neurocutaneous disorder characterized by unilateral arteriovenous malformations of the midbrain associated with vascular abnormalities of eye and optic pathways, as well as multiple cutaneous nevi, reddish-bluish in color. The co-occurrence of such anomalies can be explained by an embryonic anomaly occurring in common ancestor cells, with the more severe cases related to development errors in the very early phases of gestation. Central nervous system and vision may be severely impaired: affected individuals may present with acute headache, hemiplegia, and homonymous hemianopsia in half of the cases. Seizures, cerebellar dysfunction, acute psychiatric signs, hallucinations, and temporal/spatial disorientation are reported more rarely. A progressive mental illness can become evident later in up to 30% of cases. Surgical removal is indicated only in superficially located arteriovenous malformations, while nonsurgical strategies (i.e., embolization and radiation therapy) are indicated for most of the lesions and represent the gold standard option in the treatment of this syndrome.

Original languageEnglish
Pages (from-to)297-304
Number of pages8
JournalJournal of Pediatric Neurology
Issue number5
Publication statusPublished - Jan 1 2018


  • arteriovenous malformations
  • Bonnet-Dechaume-Blanc syndrome
  • midbrain
  • retina
  • review
  • Wyburn-Mason syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


Dive into the research topics of 'Wyburn-Mason Syndrome'. Together they form a unique fingerprint.

Cite this