Sturge-Weber Syndrome

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 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 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.

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.

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.

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.

Definition of Terms Used

Attention Deficit Disorder/Attention Deficit Hyperactivity Disorder (ADD/ADHD) – Disorder of the central nervous system. Patients can have trouble concentrating, paying attention, and processing information and stimulation. Children often exhibit problems in school, with the inability to sit still or follow directions, and with speaking out at inappropriate times.

Atrophy – The deterioration or shrinking of tissue.

Bilateral – Affecting both sides.

Blebs – A blister or pustule.

Calcification – The hardening of tissue (brain tissue in relation to calcification regarding SWS).

Computed Axial Tomography (CAT Scan) – The creation of a computer generated three-dimensional image from and X-ray.

Cobblestones – Blebs and nodules in PWS are often referred to as cobblestones. Bumps under the skin can look like small pebbles or cobblestones, creating an uneven skin texture.

De-bulking – The process of surgically removing excess tissue from areas like the lip.

EEG (electroencephalogram) – Test used to detect abnormal electrical activity of the brain.

Glaucoma – Eye disease, which causes increased fluid pressure and damage to the optic nerve. There are often no symptoms and vision loss can be rapid.

Hemiparesis – The weakness or slight paralysis of one side of the body.

Hemispherectomy – The removal of one hemisphere or lobe of the brain.

Laser (Light Amplification by Stimulated Emission of Radiation) – Treatment for PWS by use of the transmission of an intense beam of bright light to the affected area. There are many types of lasers and laser manufacturers. Consult your physician for more information.

Learning Disability – Including, but not limited to, the difficulty with reading, spelling, language, math, etc.

Magnetic Resonance Imaging (MRI) – The generation of a highly detailed 2-dimentional or 3-dimentional image of tissues inside the body using a magnetic field.

Nodules – A knoblike growth or bump, protruding from the skin.

Port Wine Stain (PWS) – PWS is present at birth, and is a mass of malformed and dilated blood vessels in the skin.

Sturge-Weber syndrome (SWS) – A disease present at birth (congenital), usually defined by a PWS on the face, and can include a variety of symptoms such as brain involvement, seizures, and glaucoma.

Retardation – Depending on severity, some of the symptoms might include the following: The limited ability to care for oneself, low IQ, or problems with communication and learning.

Seizures – There are many different types of seizures, and some patients can experience one or more of these types. The area of the brain affected can determine the type, severity and frequency of seizure activity. Patients are diagnosed on an individual basis. Signs of seizure can include, but aren’t limited to, one or more of the following: loss of consciousness, staring, suddenly collapsing and falling, jerking or convulsing of the face or limbs, or the stiffening limbs. Consult a physician for information and diagnosis.

Unilateral – Affecting one side.

Vagus Nerve Stimulator (VNS) – A device implanted in the chest with two wires leading to the vagus nerve in the left side of the neck. A magnet is also used with the VNS. When a seizure is sensed to be coming on, the magnet is passed over the implanted device, generating extra stimulation to interrupt the seizure. This treatment is not considered a cure for seizures.

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