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 article

Abstract

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
Volume16
Issue number5
DOIs
Publication statusPublished - Jan 1 2018

Fingerprint

Arteriovenous Malformations
Eye Abnormalities
Neurocutaneous Syndromes
Hemianopsia
Cerebellar Diseases
Confusion
Hemiplegia
Nevus
Hallucinations
Mesencephalon
Blood Vessels
Headache
Psychiatry
Seizures
Radiotherapy
Central Nervous System
Color
Pregnancy
Skin
Wyburn Mason's syndrome

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Tomarchio, S., Portale, A., Praticò, A. D., Catanzaro, S., Polizzi, A., Belfiore, G., ... Konez, O. (2018). Wyburn-Mason Syndrome. Journal of Pediatric Neurology, 16(5), 297-304. https://doi.org/10.1055/s-0038-1667133

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

In: Journal of Pediatric Neurology, Vol. 16, No. 5, 01.01.2018, p. 297-304.

Research output: Contribution to journalReview article

Tomarchio, S, Portale, A, Praticò, AD, Catanzaro, S, Polizzi, A, Belfiore, G, Pirrone, C, Schepis, C, Commodari, E, Praticò, ER, Zanghì, A, Ruggieri, M & Konez, O 2018, 'Wyburn-Mason Syndrome', Journal of Pediatric Neurology, vol. 16, no. 5, pp. 297-304. https://doi.org/10.1055/s-0038-1667133
Tomarchio S, Portale A, Praticò AD, Catanzaro S, Polizzi A, Belfiore G et al. Wyburn-Mason Syndrome. Journal of Pediatric Neurology. 2018 Jan 1;16(5):297-304. https://doi.org/10.1055/s-0038-1667133
Tomarchio, Stefania ; Portale, Anna ; Praticò, Andrea D. ; Catanzaro, Stefano ; Polizzi, Agata ; Belfiore, Giuseppe ; Pirrone, Concetta ; Schepis, Carmelo ; Commodari, Elena ; Praticò, Elena R. ; Zanghì, Antonio ; Ruggieri, Martino ; Konez, Orhan. / Wyburn-Mason Syndrome. In: Journal of Pediatric Neurology. 2018 ; Vol. 16, No. 5. pp. 297-304.
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