$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 (215) 825-5946 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 (303) 861-6395 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 (303) 360-7290 (800) 627-5482 Sturge-Weber Support Group 2036 Ridgewood Way Bountiful, UT 84010 (801) 292-8228 (801) 292-6639 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, please contact: 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 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.