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Genetic and Rare Diseases Information Center (GARD)

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Wyburn Mason's syndrome


Other Names for this Disease
  • Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes
  • Bonnet-Decaume-Blanc syndrome
  • Wyburn Mason syndrome
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Overview


Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.  These malformed blood vessels are called arteriovenous malformations (AVM).  Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.  Individuals with this condition may have additional AVMs in other parts of the body, particularly the face.  The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.  Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).  Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.[1]
Last updated: 8/27/2012

References

  1. Bidwell AE. Wyburn Mason's Syndrome. Medscape Reference. February 2010; http://emedicine.medscape.com/article/1219502-overview. Accessed 8/27/2012.
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In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wyburn Mason's syndrome. Click on the link to view a sample search on this topic.