Sturge-Weber Syndrome (SWS) is a congenital disease (present at birth). Not all cases of SWS are identical and symptoms and their severity can vary.
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. Certain sequences on the MRI can help with diagnoses so be sure to check on this. In addition, a CAT Scan, EEG, and other tests may be necessary in the treatment and diagnosis of SWS and its related conditions.
As reported by the Kennedy Krieger Institute and the Hunter Nelson Sturge-Weber Syndrome Center: The gene that causes Sturge-Weber syndrome was discovered at the Kennedy Krieger Institute in 2013 by Dr. Anne Comi and her collaborators. The R183Q somatic mutation in GNAQ that occurs before birth, is the cause for Sturge-Weber syndrome (SWS) and port-wine stain birthmarks.
A Port-Wine birthmark on the face is usually visible at birth. The Port Wine birthmark, also referred to as a Port-Wine Stain (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 (about 10% of SWS), and others where PWS is also present on the trunk and or extremities. Abnormalities of the brain are common. The abnormal blood vessels (leptomeningeal angioma) are present on the outer surface of the brain, and abnormal blood flow causes 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 (VNS) may also be implanted. 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 intellectual disability 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. 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. 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.
Laser treatments are now begun on infants, and can greatly improve the appearance and reduce affects of the PWS in years to come. 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.
Many adults have received little or no treatment for port wine stain issues. As one ages, the nodules or blebs can form, and the skin can also thicken and darken. It is recommended that adults seek the advice of an experienced and skilled laser surgeon.
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.
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 effects of laser treatment to be seen. In some cases, the laser doesn’t leave any visible “dots” and no swelling is present.
Laser treatment results can vary from patient to patient. Factors effecting the outcome range from type of laser used to the location and depth of the port wine stain on the face, trunk or extremities.
