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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

Stefania Tomarchio
1   Unit 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
1   Unit 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
1   Unit 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
2   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Stefano Catanzaro
1   Unit 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
3   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Giuseppe Belfiore
4   Unit of Paediatric Radiology, AOU “Policlinico-Vittorio Emanuele,” Catania, Italy
,
Concetta Pirrone
5   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Carmelo Schepis
6   Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
,
Elena Commodari
5   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Elena R. Praticò
7   Unit of Pediatrics, Carpi Hospital, Carpi, Italy
,
Antonio Zanghì
8   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Martino Ruggieri
1   Unit 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
9   Department of Radiology, Vascular and Interventional Radiology, St. John West Shore Hospital, Westlake, Ohio, United States
› Author Affiliations
Further Information

Publication History

31 January 2018

22 May 2018

Publication Date:
20 August 2018 (online)

Also available at
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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
 

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