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Sturge Weber Syndrome

Synonyms of Sturge Weber Syndrome

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

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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. Hormone abnormalities have also been found to occur equally in males and females.

Symptoms

Nevus flammeus is a discoloration on the face which is the red color of port wine. In Sturge-Weber Syndrome this "port wine birthmark" 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 birthmark 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 birthmarks 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 birthmark tends to deepen in color with age, and nodular elevations may also develop.

Port wine birthmarks on the lips and mucous membranes lining the mouth are present in approximately twenty-five percent of patients. Overgrowth of tissue due to angiogenesis 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 more than half of the patients, usually beginning during the first year of life. These may become more frequent and severe with age. A form of paralysis (hemiparesis or hemiplegia) occurs in 30 percent of patients. Mental disturbances such as attention deficit hyperactivity disorder, obsessive compulsive disorder, and other behavioral issues occur in 50 to 60 percent of patients.

Eye problems occur in approximately 70 percent of patients on the same side of the head as the portwine birthmark 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 birthmarks. In many cases, the problem is glaucoma. Typically, it 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 birthmark (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 or viral infection sustained early during gestation.

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 the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Port wine birthmarks affect approximately one million individuals in the U.S. Sturge-Weber syndrome is a rare disease affecting 8 to 15 thousand people in the United States. It occurs in both females and males. Onset occurs before birth within the first 8 to 10 weeks of gestation.

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.)

Standard Therapies

Treatment of Sturge-Weber syndrome is symptomatic and supportive. The port wine birthmark (hemangioma) can be treated with a variety of lasers. The energy emissions fade or remove the birthmarks making them less noticeable and in some cases "coverable" by makeup. The argon laser used to treat port wine birthmarks, 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 birthmarks 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 or a Center of Excellence near you.

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

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Children under the age of one year with Sturge-Weber syndrome and seizures are being examined with the Positron Emission Tomography (PET) scan by Casaba Juhasznd MD 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:

Harry T. Chugani, MD
Department of Pediatrics
PET Center
Children's Hospital
3901 Beaubien Blvd.
Detroit, MI 48201
Phone: (313) 993-2867
Fax: (313) 993-3845

For information about studies funded by the Sturge-Weber Foundation and through Federal and private grants, contact the Foundation, which is listed in the Resources section of this report or go to www.sturge-weber.com.

Centers of Excellence have been established in eight states to promote comprehensive care for those with port-wine stain conditioins, Sturge-Weber syndrome and Klippel-Trenaunay, and to guide and direct basic and clinical research. The centers are located in Scotsdale, AZ, Los Angeles, CA, Denver, CO, Atlanta, GA, Boston, MA, Detroit, MI, New York City, Long Island, NY, and Houston, TX. Centers will also be established in Paris, France, and Brussels, Belgium, in the future. For information on the center nearest you, call (800) 627-5482

Organizations related to Sturge Weber Syndrome

References

TEXTBOOKS
Godensteiner JB, Roach, ES. Sturge-Weber Syndrome, 3rd ed. The Sturge-Weber Foundation:1999.

Menkes JH, au., Pine JW, et al., eds. Textbook of Child Neurology, 5th ed. Baltimore, MD: Williams & Wilkins; 1995:684-88.

Adams, RD, et al., eds. Principles of Neurology. 6th ed. New York, NY: McGraw-Hill, Companies; 1997:1018-19.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:407-09.

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1608-09.

REVIEW ARTICLES
Batta K. Management of large birthmarks. Semin Neonatol. 2000;5:325-32.

Saneto RP, Wyllie E. Epilepsy surgery in infancy. Semin Pediatr Neurol. 2000;7:187-93.

JOURNAL ARTICLES
Kirwan JF, Shah P, Khaw PT. Diode laser cyclophotocoagulation: role in the management of refractory pediatric glaucomas. Ophthalmology. 2002:109:316-23.

Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. Neurology. 2001;57:189-95.

Kramer U, Kahana E, Shorer Z, et al. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Dev Med Child Neurol. 2000;42:756-59.

Van Emelen C, Goethals M, Dralands L, et al. Treatment of glaucoma in children with Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus. 2000;37:29-34.

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 4/15/96, Entry Number 185300.

Birth Defects Encyclopedia: Mary Louise Buyse, Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1608-09.

Choroid Plexus Size in Young Children with Sturge-Weber Syndrome. P.D. Griffiths et al.; Am J Neuroradiol (1996; 17). Pp. 175-80.

Outcome of Sturge-Weber Syndrome in 52 Adults. Am J Med Genet (1995; 57). Pp. 35-45.

Birth Defects Compendium, 2nd ed.: Daniel Bergsma; March of Dimes, 1979. 1987.

Effect of the Timing of Treatment of Port-Wine Stains with the Flash-Lamp-Pumped-Dye Laser. C. M. Van Der Horst et al.; New Eng J Med (Apr 9 1998; 338(15)). Pp. 1028-33.

FROM THE INTERNET
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Entry No: 185300, Last Edit Date: 11/11/97.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/01 00:00:00 GMT+0

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