Defining Sturge-Weber Syndrome
Sturge-Weber syndrome is a form of neurological disorder that is indicated at the time of a person's birth by seizure activity as well as a large port-wine stain birthmark on the forehead and upper eyelid of one side of the person's face. The birthmark may vary in color from deep purple to light pink and is caused by an over-abundance of capillaries around the person's trigeminal nerve which is located just beneath the surface of their face. They syndrome is also accompanied by a loss of nerve cells and calcification of tissue in the person's cerebral cortex of their brain on the same side of the body as their birthmark.
Neurological symptoms associated with Sturge-Weber syndrome include seizures that start while the person is in infancy and can worsen as they age. The convulsions commonly happen on the side of the person's body opposite the birthmark and vary in severity. The person can experience muscle weakness on the same side as well. Some children with the syndrome experience mental retardation and developmental delays. Most will have glaucoma when they are born, or develop it later. Increased pressure in the person's eye may cause their eyeball to bulge or enlarge out of its socket, something that is referred to as, 'buphthalmos.' Fortunately, Sturge-Weber syndrome rarely affects other body organs.
Treatment and Prognosis of Sturge-Weber Syndrome
Sturge-Weber syndrome is treated by the symptoms the person is experiencing. The birthmark associated with the syndrome can be approached with laser treatment. Anticonvulsant medications can be used to control seizures. In more serious cases of glaucoma, surgery can be performed. Infants and children who experience muscle weakness can benefit from physical therapy. People with Sturge-Weber syndrome who experience developmental delays or mental retardation can benefit from educational therapy. Doctors recommend annual glaucoma monitoring for people with the syndrome.
While it is possible for the atrophy and birthmark in a person's cerebral cortex to be present without symptoms, the majority of infants with Sturge-Weber syndrome will develop seizures during their first year of life. There is also a greater chance of intellectual when seizure activity begins prior to the age of two and are resistant to attempts to treat it. There is no known cure or cause for the syndrome, and not everyone with Sturge-Weber syndrome experiences identical symptoms.
The Port Wine Stain (PWS) on the person's face is commonly visible at the time the person is born. The PWS usually covers the person's forehead and eyelid, although it can include a larger or smaller portion of one or both sides of the person's head and face. The stain may also extend into areas such as the person's nose, throat, tongue, ear canal, or gums. The patterns and severity of PWS vary on an individual basis. There are also people who have Sturge-Weber syndrome and do not have a PWS, and yet others who have the syndrome and a PWS on their trunk or extremities.
Brain abnormalities are common in persons with Sturge-Weber syndrome. The PWS that is present in the majority of people who have the syndrome is on the outer layer of the brain, causing calcification of the brain, as well as atrophy of the brain tissue. Seizures are also a common symptoms of Sturge-Weber syndrome; they are usually a result of the calcification process. The majority of seizure activity can be either controlled or modified through the administration of medications. In people who are unable to achieve medication control of seizures a, 'hemispherectomy,' whereby one hemisphere of the person's brain is either removed or detached, may be performed in a final effort to end uncontrolled seizures. There is also a device known as the, 'Vagus Nerve Stimulator,' that can be implanted which stimulates the person's vagus nerve in their neck. The device sends a signal to the person's brain to assist with interrupting seizures.
Sturge-Weber syndrome can affect a person's brain in either a unilateral or bilateral fashion, meaning the syndrome can affect either one or both sides of the person's brain. Persons affected by the syndrome can experience, 'Hemiparesis,' or weakening or loss of use of one side of their body, opposite of the PWS. Only in rare cases does Sturge-Weber syndrome affect other organs in a person's body.
One of the results of the syndrome may be mild to severe retardation. Learning disabilities may be a factor of Sturge-Weber syndrome, as well as symptoms that are similar to ADD/ADHD, and behavioral problems. Glaucoma can be present when the person is born, or may appear months or even years later. Glaucoma affects a person's eye, resulting in loss of vision due to optic nerve damage. Some people with the syndrome only receive a diagnosis based upon the presence of glaucoma and a Port Wine Stain, yet brain involvement is the defining factor of Sturge-Weber syndrome.
The majority of people with Sturge-Weber syndrome are diagnosed by the age of three years. If the person does not show any signs of brain involvement by the age of three, doctors agree they will most likely not develop the syndrome. Even so, monitoring of their eyes for glaucoma should continue for the remainder of their life. Early treatment of the person's PWS is recommended because the stain may thicken over time and develop nodules or, 'blebs,' which are sometimes referred to as, 'cobblestones,' which may then bust open and bleed. Laser treatments are now available for infants and can reduce the effects of the PWS in coming years.
Early treatment of PWS affecting areas such as a person's lips or gums is important because they may become problem areas as they become engorged and grow larger. When a person's gums are affected it can result in dental problems such as bleeding, tooth decay, or gums that overlap their teeth. The person's lip area might require surgery to be de-bulked. Laser treatment has advanced greatly over time and is recommended for adults who have not received treatment, or have received little treatment. Laser treatments commonly leave small, round spots on the area that has been treated that range in color from purple/black to red. Some swelling might be present as well. The symptoms usually start to subside within a few days, although it can take weeks or months for the full-effects of laser treatment to be seen. Every PWS treatment, the results, and effects depend on a number of facts. These factors include the location and depth of the PWS, the type of laser used, and the settings of laser.