Sturge Weber Syndrome

Sturge Weber Syndrome (SWS) was first identified in the 1870’s.  At that time there was very little understanding of the disease.  Because of the facial differences seen in the disease families often became isolated.  Those that did seek medical attention were at the mercy of the medical community and public who did not even attempt to understand the disease or help ease the symptoms associated with SWS.

      In 1986 Mimi Howe contacted the National Organization of Rare Diseases for information on the disease.  Finding very little information published she started a support group.  In very little time she found over 40 families battling SWS.  One of these families was Karen and Kirk Ball.  Karen had just given birth to Kaelin, she was diagnosed with glaucoma and a bilateral port wine stain.  Karen was looking for answers for treatment, and “why” this happened to her daughter.  She contacted Mimi who offered support but did not have the answers Karen was seeking.  Karen and Kirk started the Sturge Weber Foundation in 1987 to provide support for individuals, families and the medical professionals.  She desperately wanted to “speed up the collective understanding of the syndrome”.  (SWS: The resource guide for a reason, a season and a lifetime by Edited by Karen Ball)

      Over the past 20 years the SWF has provided support and education in many ways.  They have hosted international family conferences, regional family days, published a newsletter, web-site and reference book on the syndrome. NOVA refers all family contacts with SW to the SWF for assistance and the organizations jointly serve the family.

      According to the National Institute of Neurological Disorders and Stroke, SWS is a neurological disorder indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face.  The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.  Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity.  There may be muscle weakness on the same side.  Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later.  The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.

 There are treatments for the symptomatic aspects of the syndrome.  Laser may be used to lighten the vascular anomalies, or Port Wine Stains, anticonvulsant medications are used to control seizures.  Surgery is used to treat glaucoma.  Physicians encourage parents to seek physical therapy for the neurological components that lead to muscle weakness.  Some children have developmental delays and need educational therapy.  Glaucoma should be monitored throughout the life of the patient. 

NOVA provides this information as a resource.  It is not intended to engage in the practice of medicine or to replace the physician.  NOVA does not claim to have medical knowledge.  NOVA does not endorse any particular physician, treating facility or treatment protocol.  In all cases NOVA, the NOVA Board of Directors and associates recommends that you seek the opinion of a physician experienced in the diagnosis and treatment of hemangioma and vascular malformations.

rev 1/7/2010