Sturge-Weber syndrome

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Definition

Sturge-Weber syndrome (SWS) is a condition involving specific brain changes that often cause seizures and mental delays. It also includes port-wine colored birth-marks (or "port-wine stains"), usually found on the face.

Description

The brain finding in SWS is leptomeningeal angioma, which is a swelling of the tissue surrounding the brain and spinal cord. These angiomas cause seizures in approximately 90% of people with SWS. A large number of affected individuals are also mentally delayed.

Port-wine stains are present at birth. They can be quite large and are typically found on the face near the eyes or on the eyelids. Vision problems are common, especially if a port-wine stain covers the eyes. These vision problems can include glaucoma and vision loss.

Facial features, such as port-wine stains, can be very challenging for individuals with SWS. These birthmarks can increase in size with time, and this may be particularly emotionally distressing for the individuals, as well as their parents. A state of unhappiness about this is more common during middle childhood and later than it is at younger ages.

Genetic profile

The genetics behind Sturge-Weber syndrome are still unknown. Interestingly, in other genetic conditions involving changes in the skin and brain (such as neurofibromatosis and tuberous sclerosis) the genetic causes are well described. It is known that most people with SRS are the only ones in their family with the condition; there is usually not a strong family history of the disease. However, a gene known to cause SWS has not been identified. For now, SWS is thought to be caused by a random, sporadic event.

Demographics

Sturge-Weber syndrome is a sporadic disease that is found throughout the world, affecting males and females equally. The total number of people with Sturge-Weber syndrome is not known, but estimates range between one in 400,000 to one in 40,000.

Causes and symptoms

People with SWS may have a larger head circumference (measurement around the head) than usual. Leptomeningeal angiomas can progress with time. They usually only occur on one side of the brain, but can exist on both sides in up to 30% of people with SWS. The angiomas can also cause great changes within the brain's white matter. Generalized wasting, or regression, of portions of the brain can result from large angiomas. Calcification of the portions of the brain underlying the angiomas can also occur. The larger and more involved the angiomas are, the greater the expected amount of mental delays in the individual. Seizures are common in SWS, and they can often begin in very early childhood. Occasionally, slight paralysis affecting one side of the body may occur.

Port-wine stains are actually capillaries (blood vessels) that reach the skin's surface and grow larger than usual. As mentioned earlier, the birthmarks mostly occur near the eyes; they often occur only on one side of the face. Though they can increase in size over time, port-wine stains cause no direct health problems for the person with SWS.

Vision loss and other complications are common in SWS. The choroid of the eye can swell, and this may lead to increased pressure within the eye in 33–50% of people with SWS. Glaucoma is another common vision problem seen in SWS, and is more often seen when a person has a port-wine stain that is near or touches the eye.

In a 2000 study about the psychological functioning of children with SWS, it was noted that parents and teachers report a higher incidence of social problems, emotional distress, and problems with compliance in these individuals. Taking the mental delays into account, behaviors associated with attention-deficit hyperactivity disorder (ADHD) were noted; as it turns out, about 22% of people with SWS are eventually diagnosed with ADHD.

Diagnosis

Because no genetic testing is available for Sturge-Weber syndrome, all diagnoses are made through a careful physical examination and study of a person's medical history.

Port-wine stains are present at birth, and seizures may occur in early childhood. If an individual has both of these features, SWS should be suspected. A brain MRI or CT scan can often reveal a leptomeningeal angioma or brain calcifications, as well as any other associated white matter changes.

Treatment

Treatment of seizures in SWS by anti-epileptic medications is often an effective way to control them. In the rare occasion that an aggressive seizure medication therapy is not effective, surgery may be necessary. The general goal of the surgery is to remove the portion of brain that is causing the seizures, while keeping the normal brain tissue intact. Though most patients with SWS only have brain surgery as a final attempt to treat seizures, some physicians favor earlier surgery because this may prevent some irreversible damage to the brain (caused by the angiomas).

Standard glaucoma treatment, including medications and surgery, is used to treat people with this complication. This can often reduce the amount of vision loss.

There is no specific treatment for port-wine stains. Because they contain blood vessels, it could disrupt blood flow to remove or alter the birthmarks.

Prognosis

The prognosis for people with SWS is directly related to the amount of brain involvement for the leptomeningeal angiomas. For those individuals with smaller angiomas, prognosis is relatively good, especially if they do not have severe seizures or vision problems.

Resources

BOOKS

Charkins, Hope. Children with Facial Difference: A Parent's Guide. Bethesda, MD: Woodbine House, 1996.

ORGANIZATIONS

The Sturge-Weber Foundation. PO Box 418, Mount Freedom, NJ 07970. (800) 627-5482 or (973) 895-4445. Fax: (973) 895-4846. swfoffice@aol.com. http://www.sturgeweber.com/.

WEBSITES

"Sturge-Weber Syndrome." Family Village.http://www.familyvillage.wisc.edu/lib_stur.htm.

Sturge-Weber Syndrome Support Group of New Zealand. http://www.geocities.com/HotSprings/Spa/1563/.

Deepti Babu, MS

An encephalofacial angiomatosis characterized by cutaneous facial cerebral angiomatosis, ipsilateral gyriform calcifications of the brain, mental retardation, seizures (epilepsy), contralateral hemiplegia, and ocular involvement. Facial lesions (port-wine stain) may join intraoral angiomas on the buccal mucosa and gingiva.

Definition

Sturge-Weber syndrome (SWS) is a rare, congenital (present at birth), noninherited disorder characterized by the vascular malformation (birthmark) called a port wine stain, usually seen on an infant's face. Sturge-Weber also is characterized by neurological abnormalities including seizures, weakness on one side of the body, developmental delay, and glaucoma (increased pressure within the eye). Other terms for SWS are: encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.

Sturge-Weber syndrome is named for the British physicians William A. Sturge (1850–1919), who first described the condition, and Frederick Parkes Weber (1863–1962) who demonstrated its intracranial calcifications.

Description

SWS is a rare congenital disorder whose most apparent indication is a port wine stain on the face that is associated with neurological abnormalities. The port wine stain is a benign tumor just under the surface of the skin, made up of overabundant blood vessels (angiomas). Port wine stain may affect either or both sides of the face and can vary in size. Other neurological abnormalities may be present, including angioma on the brain's surface.

Demographics

The incidence of SWS is estimated at one per 50,000 live births in the United States. No regional or gender differences have been noted. An estimated 13 percent of individuals with SWS will not have the port wine stain. In addition, some children with port wine stain may not have Sturge-Weber syndrome.

Causes and Symptoms

The exact cause and incidence of Sturge-Weber syndrome was as of 2004 not understood. It is not thought to be genetic.

Frequency of Symptoms

A child born with SWS has a higher likelihood of the following clinical signs of the disorder:

• port wine stain: 8–15 percent
• bilateral (both sides) brain involvement: 15 percent
• seizures: 72–93 percent
• hemipareis (weakness on one side of body): 25–56 percent
• hemianopsia (loss of half of the field of vision): 44 percent
• headaches: 44–62 percent
• developmental delay/mental retardation: 50–75 percent
• glaucoma (increased pressure within the eye): 30–71 percent
• choroidal hemangioma (nonmalignant blood vessel tumors in the eye): 40 percent

The following manifestations of SWS may be present:

• Port wine stain: The port wine stain is caused by excess capillaries (tiny blood vessels) just below the skin's surface. It may vary in color, shape, and location on the face. Sometimes the port wine stain covers other parts of the body as well as the face.
• Seizures: Angiomas on the surface of the brain cause seizures in nearly all children with SWS. As the child grows, the affected part of the brain can atrophy (waste away). Deposits of calcium also may occur. This can cause seizures to become more frequent and to last longer.
• Hemipareis (weakness on one side of body): In SWS, this results from frequent seizures.
• Hemianopsia (loss of half of the field of vision): Angiomas can affect the optic nerve, causing blindness in half of the eye.
• Headaches: About one-third of children aged ten years and younger with SWS suffer from migraines.
• Developmental delay/mental retardation: Seizures are responsible for learning difficulties in two out of three children with SWS.
• Glaucoma (increased pressure within the eye): Glaucoma is present in 70 percent of children with SWS whose upper eyelids have port wine stain. Fluid produced within the eye (aqueous humor) cannot exit normally. This leads to increased pressure within the eye and eventual damage to the optic nerve.
• Choroidal hemangioma (nonmalignant blood vessel tumors in the eye): Noncancerous tumors can grow within the eye on the choroid blood vessel, the vessel that nourishes the eye. If the tumor is in the central area of vision, visual function can be affected.

When to Call the Doctor

An infant born with a port wine stain will be immediately evaluated by healthcare staff. In some cases, infants with SWS will not have a port wine stain present at birth. In these cases, suspicion of SWS may not arise until a child has a seizure or other neurological problem.

Diagnosis

Clinical diagnosis of SWS begins with the observation of port wine stain in an infant. The port wine stain may not be obvious in children of color. Not all children with port wine stain will have SWS, however; and some children with SWS will not have port wine stain. In the absence of port wine stain, other neurological abnormalities will help determine the diagnosis. Seizures may be the first symptoms of SWS in a child, usually by the first year. The seizures are usually frequent and may be prolonged. If glaucoma is involved, there may be no symptoms in older children. Infants may avoid bright light as a result of enlarged corneas.

If neurological involvement is suspected, the following tests may be used to help make a diagnosis:

• X ray of the skull to show calcifications (calcium deposits)
• CT scan of the skull to show calcifications, abnormal veins, and brain atrophy
• MRI to show angiomas (benign tumors made up of blood vessels)
• single-photon emission computed tomography to measure blood flow in the brain
• EEG to evaluate seizures

Treatment

Treatment for SWS depends on the disorder involved.

• Port wine stain: Laser treatment is used to lighten or remove port wine stain. Pulsed-dye laser therapy successfully treats port wine stain without significant scarring. Treatment should start as soon as possible. Multiple treatments will be necessary.
• Seizures: Drug therapy may be used to control seizures. However, the seizures often are resistant to treatment. In some cases, early surgical removal of the part of the brain with the abnormal blood vessels may be considered.
• Vision problems: Drug therapy may be used to treat glaucoma. Photodynamic therapy also is used to treat choroidal hemangiomas that affect the eye.
• Headaches: Medications may be taken to treat migraines. Children age two and under should not take aspirin due to the risk of Reye syndrome.
• Developmental delay and learning problems: A wide range of treatment options is available to children with developmental delay and learning problems associated with SWS.
• Hemipareis (weakness on one side of body): Hemipareis can be treated with physical and occupational therapy.

Prognosis

SWS is not a fatal disease. The prognosis for SWS depends on the specific neurological abnormalities present. Some abnormalities associated with SWS may worsen with age. Successful treatment of seizures improves the outlook for children with SWS.

Prevention

There was as of 2004 no known way to prevent SWS. Nothing a parent has done or did not do causes the disorder.

Parental Concerns

The seizures that are often present with SWS can place children in potentially dangerous situations.

See also Seizure disorder.

Resources

Periodicals

Baselga, E. "Sturge-Weber syndrome." Seminars in Cutaneous Medicine and Surgery 23, no. 2 (June 2004): 87–98.

Lam, Samuel, et al. "Practical Considerations in the Treatment of Capillary Vascular Malformations, or Port Wine Stains." Facial Plastic Surgery (2004): 71–6.

Thomas-Sohl, K. A., et al. "Sturge-Weber syndrome: a review." Pediatric Neurology 30 (May 2004): 303–10.

Organizations

American Academy of Dermatology. 930 E. Woodfield Rd., Schaumburg, IL 60168. Web site: www.aad.org/

Children's Hemiplegia and Stroke Association. Suite 305, PMB 149 4101 W. Green Oaks. Arlington, TX 76016. Web site: www.hemikids.org/hemiplegia.htm.

FACES: The National Craniofacial Association. PO Box 11082, Chattanooga, TN 37401. Web site: www.facescranio.org/.

National Association for Rare Disorders. 55 Kenosia Avenue, PO Box 1968, Danbury, CT 06813–1968. Web site: www.rarediseases.org/info/contact.html.

Sturge-Weber Foundation. PO Box 418, Mount Freedom, NJ 07970. Web site: www.sturge-weber.com/.

Web Sites

"NINDS Sturge-Weber Syndrome Information Page." National Institute of Neurological Disorders and Stroke, 2001. Available online at www.ninds.nih.gov/health_and_medical/disorders/sturge_doc.htm (accessed November 30, 2004).

Sturge-Weber Foundation. Available online at www.sturgeweber.com (accessed November 30, 2004).

"Sturge-Weber Syndrome." eMedicine, 2001. Available online at www.emedicine.com/neuro/topic356.htm#section~workup (accessed November 30, 2004).

"Sturge-Weber Syndrome." Epilepsy Action. Available online at www.epilepsy.org.uk/info/sturge.html (accessed November 30, 2004).

[Article by: Christine Kuehn Kelly]

A congenital syndrome characterized by a port-wine stain nevus in the distribution of the trigeminal nerve, homolateral meningeal angioma with intracranial calcification and neurologic signs, and angioma of the choroid, often with secondary glaucoma. Also called angiophacomatosis, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, Sturge's disease, Sturge-Weber disease.

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