Sturge-Weber Syndrome (SWS) is a congenital disease (present at birth). There is no known cause or cure for the disease. Not all cases of SWS are identical and symptoms and their severity can vary.
A Port Wine Stain (PWS) on the face is usually visible at birth. The PWS most often covers the forehead and eyelid, but can include a larger portion (or smaller) on one or both sides of the face and head, and can extend into areas like the throat, nose, tongue, gums, and ear canal. However, the patterns and severity of PWS will vary on a case-to-case basis.
There are reported cases of SWS where no visible PWS is present, and others where PWS is also present on the trunk and or extremities.
Abnormalities of the brain are common. The PWS is present on the outer layer of the brain causing calcification of the brain, and atrophy of the brain tissue.
Seizures are also a common symptom of SWS and are usually a result of the calcification process. Most seizure activity can be controlled or modified by the use of medication. In the most severe cases, a hemispherectomy (where one hemisphere of the brain is removed or detached) is used as a “last ditch effort” to stop uncontrolled seizures. A device known as the Vagus Nerve Stimulator may also beimplanted. The device stimulates the vagus nerve in the neck, sending a signal to the brain to help interrupt seizure activity.
SWS can affect the brain by being bilateral or unilateral (affecting one or both sides of the brain). Hemiparesis (the weakening or loss of use on the side of the body opposite the PWS) can also be present.
In rare cases SWS can affect other organs in the body. Mild to severe retardation can also be a result of SWS. Learning disability can be another factor in SWS, as well as behavioral problems, and in some cases, symptoms similar to ADD/ADHD can be present.
Glaucoma may be present at birth, or can appear months or years later. This disease affects the eye, resulting in vision loss due to damage to the optic nerve. It is recommended that patients have a yearly ophthalmology examination for glaucoma.
Some patients have been given the diagnosis of SWS when they only have glaucoma and a PWS, but brain involvement is typically the defining factor for SWS.
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Patients should have a yearly eye exam to check for signs of glaucoma. |
Most cases of SWS are diagnosed by age 3. If there is no sign of brain involvement by age 3, experts agree that the patient will likely not develop SWS. However, close monitoring of the eyes for symptoms of glaucoma should continue throughout life.
Early treatment of the PWS is recommended, as the PWS can thicken over the years and develop nodules or blebs (sometimes referred to as cobblestones), which can bust open and bleed. Laser treatments are now begun on infants, and can greatly improve the appearance and reduce affects of the PWS in years to come.
Also, early treatment of PWS of areas like the gums and lip are important, as these can become problem areas as they become engorged and grow larger. Affected gums can result in dental problems (such as bleeding of the gums, tooth decay and gum overlapping of teeth), and the lip area may require surgery to be de-bulked.
The development of laser treatment has been greatly advanced over the years, and it is recommended that adults, who have never been treated or had little treatment, seek the advice of a skilled laser surgeon.
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Many adults have received little or no treatment for port wine stain issues. As one ages, nodules or blebs can form, which bust and bleed. The skin can also thicken and darken. It is recommended that adults seek the advice of a physician. |  |
Laser treatments usually leave small round spots on the treated area, ranging in color from red to purple/black. There may also be swelling in the treated area. These symptoms usually begin to subside within several days, and it may take weeks or months for the full affects of laser treatment to be seen. In some cases, the laser doesn’t leave any visible “dots” and no swelling is present.
Each port wine stain treatment, results, and effects depend on many factors – including location, depth of PWS, type of laser and settings, etc.
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Laser treatment results can vary from patient to patient. Factors affecting the outcome range from type of laser used to the location and depth of the port wine stain on the face, trunk or extremities. |
Some port wine stain syndromes and conditions can appear to be similar, and can be difficult to diagnose. Magnetic Resonance Imaging (MRI) studies are typically used in the diagnosis of SWS. An MRI with contrast (using dye) is the preferred method in determining SWS. In addition, a CAT Scan, EEG, and other tests may be necessary in the treatment and diagnosis of SWS and its related conditions.
Dr. Anne Comi is the VBF Expert for SWS. She is one of the collaborators with this recent breakthrough with PWS/SWS. Here is Dr. Comi’s comment:
“This has been such an amazing day. I have heard from many of you and I share your excitement! We know a lot about this gene GNAQ and the protein it makes. Therefore knowing that this mutation causes SWS and PWS is a big advance for the field, and immediately leads us to new ideas about avenues that should be pursued for possible treatment. There is a LOT that still needs to be done-but now we have a direction, and information to light our way, and I feel sure that new treatments are on the way. This discovery has been the result of many years of dedicated research, and we won’t stop now. Please, continue supporting research, participating in research and when you have the opportunity, donate tissue. Together we will conquer SWS and PWS! For more information please check out our website at http://sturgeweber.kennedykrieger.org”
