$Unique_ID{BRK04339} $Pretitle{} $Title{Wyburn-Mason Syndrome} $Subject{Wyburn-Mason Syndrome Cerebroretinal Arteriovenous Aneurysm Bonnet-Dechance-Blanc Syndrome Sturge-Weber Syndrome Von Hippel-Lindau Disease} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 588: Wyburn-Mason Syndrome ** IMPORTANT ** It is possible that the main title of the article (Wyburn-Mason Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cerebroretinal Arteriovenous Aneurysm Information on the following diseases can be found in the Related Disorders section of this report: Bonnet-Dechance-Blanc Syndrome Sturge-Weber Syndrome Von Hippel-Lindau Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Wyburn-Mason Syndrome is a rare genetic disorder that usually affects the brain, eyes and skin. Major symptoms may include discolored patches on the skin, and ballooned areas in the arteries (aneurysms) of the brain and eyes. Symptoms Wyburn-Mason Syndrome is usually present at birth but does not become apparent until one reaches the thirties. The onset can be either sudden or gradual. Usually vision is lost in one eye. This may be accompanied by severe headache, vomiting, and the sudden bulging of the affected eye. If an aneurysm occurs in the midbrain it may result in a stiff neck, symptoms of meningitis, loss of consciousness, ringing in the ears (tinnitus), deafness, loss of speech (aphasia) and other signs of neurologic deterioration. There are usually areas of discolored skin (nevi) around the affected eye. Causes The exact cause of Wyburn-Mason Syndrome is not known. It may be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Wyburn-Mason Syndrome is a very rare disorder that affects males more often than females. Related Disorders Symptoms of the following disorders can be similar to those of Wyburn-Mason Syndrome. Comparisons may be useful for a differential diagnosis: Bonnet-Dechance-Blanc Syndrome is characterized by congenital nonmalignant bulges in the veins (aneurysms) of the retina, thalamus, and midbrain. It occurs in early childhood and is often accompanied by mental deterioration. Von Hippel-Lindau Disease usually begins during young adulthood but may appear as early as the age of eight. It is characterized by headaches, dizziness and failure of muscular coordination (ataxia). Unreasonable behavior may also occur. Enlarged and twisted blood vessels may occur in the retina. Bulges in the blood vessels (aneurysms) may develop. Tumors of the adrenal glands may be present as well. (For more information on this disorder, choose "Von Hippel-Lindau" as your search term in the Rare Disease Database.) Sturge-Weber Syndrome is a hereditary disorder in which a port wine colored stain (angioma) on the face and intracranial abnormalities are present at birth. Generalized seizures and additional neurological symptoms usually occur between 1-2 years of age. Vascular lesions in the brain usually involve the occipital or parieto-occipital regions. (For more information on this disorder, choose "Sturge-Weber" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Wyburn-Mason is symptomatic and supportive. Surgery may be recommended to repair aneurysms of the brain or eye. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Wyburn-Mason Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References WYBURN-MASON SYNDROME SUBCUTANEOUS ANGIOMA EXTIRPATION AFTER PRELIMINARY EMBOLISATION, R.J. de Keizer, et al, Doc Ophthalmod ( March 20, 1981, issue 50 (2)). Pp. 263-273. COMBINED PHAKOMATOSES; A CASE REPORT OF STURGE-WEBER AND WYBURN-MASON SYNDROME OCCURRING IN THE SAME INDIVIDUAL. J.B. Ward, et al.; Ann Ophthalmol (December, 1983, issue 15 (12)). Pp. 1112-1116.