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

doi:10.1055/s-0038-1667133

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(05): 297-304
DOI: 10.1055/s-0038-1667133

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Wyburn-Mason Syndrome

Authors

Stefania Tomarchio

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Anna Portale

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Andrea D. Praticò

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

²Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
Stefano Catanzaro

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Agata Polizzi

³Institute of Neurological Sciences, National Research Council, Catania, Italy
Giuseppe Belfiore

⁴Unit of Paediatric Radiology, AOU “Policlinico-Vittorio Emanuele,” Catania, Italy
Concetta Pirrone

⁵Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
Carmelo Schepis

⁶Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
Elena Commodari

⁵Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
Elena R. Praticò

⁷Unit of Pediatrics, Carpi Hospital, Carpi, Italy
Antonio Zanghì

⁸Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
Martino Ruggieri

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Orhan Konez

⁹Department of Radiology, Vascular and Interventional Radiology, St. John West Shore Hospital, Westlake, Ohio, United States

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.

Keywords

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

Full Text

References

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