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$Unique_ID{BRK04241}
$Pretitle{}
$Title{Sturge-Weber Syndrome}
$Subject{Sturge-Weber Syndrome Dimitri Disease Encephalofacial Angiomatosis
Encephalotrigeminal Angiomatosis Leptomeningeal Angiomatosis Meningeal
Capillary Angiomatosis Sturge-Kalischer-Weber Syndrome Sturge-Weber
Phakomatosis }
$Volume{}
$Log{}

Copyright (C) 1986, 1987, 1988, 1989, 1991, 1993 National Organization
for Rare Disorders, Inc.

306:
Sturge-Weber Syndrome

** IMPORTANT **
It is possible the main title of the article (Sturge-Weber Syndrome) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Dimitri Disease
     Encephalofacial Angiomatosis
     Encephalotrigeminal Angiomatosis
     Leptomeningeal Angiomatosis
     Meningeal Capillary Angiomatosis
     Sturge-Kalischer-Weber Syndrome
     Sturge-Weber Phakomatosis

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.


Sturge-Weber Syndrome is composed of three major symptoms:  Excessive
blood vessel growths (leptomeningeal angiomas) are accompanied by
accumulations of calcium inside the brain, and seizures.  Facial birth marks
(nevus flammeus) appear usually on one side of the face.  Angiomas similar to
those found in the brain can develop inside the eye, often with secondary
glaucoma.

Symptoms

Nevus Flammeus is a discoloration on the face which is the red color of port
wine.  In Sturge-Weber Syndrome this "port wine stain" is noted at birth and
generally occurs on the same side of the head as the excessive blood vessel
growths (leptomeningeal angiomatoses) in the brain which are accompanied by
accumulations of calcium (intracranial calcifications).  The port wine stain
primarily occurs along the distribution of the trigeminal nerve in the face,
although in some cases it does not appear at all.  Approximately thirty seven
percent of patients have portwine stains on both sides of the face.
Involvement of the extremities or trunk, in addition to the face, occurs in
up to thirty-six percent of patients.  Although the discoloration usually
affects only one side of the face, a slight extension over the midface occurs
in approximately fifty percent of cases.  The port wine stain tends to deepen
in color with age, and nodular elevations may also develop.

Port wine stains on the lips and mucous membranes lining the mouth are
present in approximately twenty five percent of patients.  Overgrowth of
tissue may develop inside the mouth as well, and may be further increased as
a side effect of the drug phenytoin when it is used to treat seizures.

Seizures occur in approximately fifty five to ninety seven percent of
patients, usually beginning during the first year of life.  These tend to
become more frequent and severe with age.  A form of paralysis (hemiparesis
or hemiplegia) occurs in thirty percent of patients.  Mental disturbances
occur in fifty to sixty percent of patients.

Eye problems occur in approximately forty percent of patients on the same
side of the head as the portwine stain and clumps of blood vessels
(leptomeningeal angiomatosis) accompanied by intracranial calcifications.
These eye problems do not tend to occur in Sturge-Weber patients who have no
portwine stains.  Glaucoma occurs in approximately thirty percent of
patients.  In most of these cases glaucoma is present at birth accompanied by
enlargement of the eyeball (buphthalmos), but it may begin anytime before
(and/or) after the age of two years.  Other eye anomalies include clumps of
blood vessels (angiomas) in the membranes that line the inner surface of the
eyelids (conjunctiva), choroid and cornea; loss of vision in half the visual
field in one or both eyes (hemaniopsia); eyes of two different colors (i.e.,
one blue eye and one brown eye); an abnormal accumulation of fluid inside the
eyeball causing enlargement (hydrophthalmos); optic atrophy; clouding
(opacification) or displacement of the lens;  retinal detachment; streaks
resembling blood vessels (angioid streaks); or loss of sight due to an
organic lesion in the visual cortex (cortical blindness).

Sturge-Weber Syndrome patients may also have other blood vessel or nerve
abnormalities.  Excess deposits of calcium may be found in the brain, retina,
lungs, thyroid, intestines, and liver.  Klippel-Trenaunay Syndrome with port
wine stain (nevus flammeus) of the extremities can also occur in conjunction
with Sturge-Weber Syndrome.  (For more information on Klippel-Trenaunay
Syndrome, please choose "Klippel" as your search term in the Rare Disease
Database).  Some patients with Tuberous Sclerosis, Neurofibromatosis, and
Wyburn-Mason Syndrome also appear to concurrently have Sturge-Weber Syndrome.
Ocular or Oculocutaneous Melanosis (Phakomatosis Pigmentovascularis, type
II-B) has been associated with Sturge-Weber in a small number of patients.
Melanosis is an abnormal dark brown or black-brown pigmentation in various
tissues or organs.  (For more information on any of these disorders, please
choose the appropriate name as your search term in the Rare Disease Database).

Causes

The exact cause of Sturge-Weber Syndrome is unknown.  In some it is believed
to be an autosomal dominant hereditary disorder.  It may also be caused by
trauma sustained early during fetal life.

(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 normal gene and resulting in appearance of the disease.  The
risk of transmitting the disorder from affected parent to offspring is 50%
for each pregnancy regardless of the sex of the resulting child.)

Affected Population

Sturge-Weber Syndrome is a rare disease affecting only a few thousand people
in the United States.  It occurs in both females and males.  Onset occurs
before birth.

Related Disorders

Neurofibromatosis (NF) is a genetically determined disorder with highly
variable symptoms which can affect many body systems.  Onset usually occurs
in childhood.  The disease usually becomes more active at puberty, during
pregnancy, and at menopause.  The most prominent symptoms are tumors under
the skin which can result in disfigurement and other complications.  (For
more information, choose "Neurofibromatosis" as your search term in the Rare
Disease Database.)

Tuberous Sclerosis is a congenital disorder associated with benign tumors
of the brain, skin lesions, and occasional involvement of other internal
organs.  It is most often characterized by two neurological symptoms -
epileptic seizures and varying degrees of mental retardation.  (For more
information, choose "Tuberous Sclerosis" as your search term in the Rare
Disease Database.)

Von Hippel-Lindau Syndrome is a possibly hereditary disorder
characterized by angioma of the retina associated with a benign tumor.  The
tumor is composed of newly formed blood vessels (hemangioma) in the central
nervous system.  (For more information on this disorder, choose "Von Hippel"
as your search term in the Rare Disease Database.)

Therapies:  Standard

Treatment of Sturge-Weber Syndrome is symptomatic and supportive.  The port
wine stain (hemangioma) can be treated with the use of a new type of laser
known as the "flash pump dye" laser.  The energy emissions fade or remove the
stains making them less noticeable and in some cases "coverable" by makeup.
The argon laser, used until recently to treat port wine stains, can cause
crusting, scabbing and scarring of the stain.  It can also cause enough pain
to require local anesthesia.  The flash pump dye laser can be used on young
children as young as one month of age with port wine stains because it is
relatively painless and eliminates any lasting effects on the skin.  Contact
the Sturge-Weber Foundation (listed in the Resources section) for a laser
center near you.

Seizures may be controlled in many patients by anticonvulsants.  Special
education services are commonly required for Sturge-Weber children.  Genetic
counseling and physical therapy may benefit patient and family.

Therapies:  Investigational

Clinical trials involving Sturge-Weber Syndrome include the following
projects:

Children under the age of one year with Sturge-Weber Syndrome and
seizures are being examined with the Positron Emission Tomography (PET) scan
by Harry T. Chugani, M.D., under a grant from the National Institutes of
Health.  Dr. Chugani is seeking to identify patients with controlled seizures
who might benefit from removal of one of the hemispheres of the brain
(hemispherectomy).  Physicians may contact:

     Dr. Harry T. Chugani
     UCLA Medical Center
     Department of Pediatric Neurology
     10833 LeConte
     Los Angeles, CA  90024-1752
     [phone]

Dr. Eva Sujansky of Children's Hospital, Denver, CO, is conducting
chromosome research on Sturge-Weber Syndrome.  Dr. Sujansky is director of
the Sturge-Weber Clinic at Children's Hospital.

     Dr. Eva Sujansky
     TCH-Denver
     1056 E. 19th Ave., Box B-300
     [phone]

Research on Port Wine Stains is also being pursued by:

     Dr. Odile Enjolras
     Dept. of Dermatology
     Hospital Tarnier
     Paris, France

The Flashlamp-Pulsed Tunable Dye Laser is showing very good results in
the treatment of port wine stain in the skin of children under age eighteen.
This treatment has shown little or no side effects.

This disease entry is based upon medical information available through
March 1993.  Since NORD's resources are limited, it is not possible to keep
every in the Rare Disease Database completely current and accurate.  Please
with the agencies listed in the Resources section for the most current about
this disorder.

Resources

For more information on Sturge-Weber Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     Box 8923
     Fairfield, CT  06812-1783
     746-6518

     The Sturge-Weber Foundation
     P.O. Box 460931
     Aurora, CO  80046
     [phone]
     [phone]

     Sturge-Weber Support Group
     2036 Ridgewood Way
     Bountiful, UT  84010
     [phone]
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 6th ed.:  Victor A. McKusick; Johns Hopkins
Press, 1983.  P. 498.

BIRTH DEFECTS COMPENDIUM, 2nd ed.:  Daniel Bergsma; March of Dimes, 1979.
1987.