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$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.