SWS

Sturge-Weber syndrome (SWS) is a rare, congenital (present at birth) disorder characterized by a birthmark on the forehead, scalp, or around the eye. This birthmark is often pinkish or purplish in color. The syndrome is also associated with neurological abnormalities, including seizures, weakness on one side of the body (hemiparesis), developmental delays, and glaucoma.

Signs and Symptoms

The most common sign of Sturge-Weber syndrome is a facial birthmark, known as a Port-wine stain. This birthmark is present at birth and usually covers at least one upper eyelid and the forehead. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.

Neurological symptoms of Sturge-Weber syndrome can include seizures, which often start in infancy and may worsen with age. Some individuals with the syndrome may also have developmental delays and cognitive impairment, although the severity varies widely among affected individuals.

Causes

Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. This mutation is not inherited, but occurs randomly in cells of the body during early development in the womb. The mutation causes the blood vessels to form improperly, leading to the characteristic birthmark and neurological symptoms of the syndrome.

Diagnosis

Diagnosis of Sturge-Weber syndrome is usually based on the presence of the characteristic birthmark and neurological symptoms. Imaging tests such as MRI or CT scan may be used to confirm the diagnosis and assess the extent of the disorder.

Treatment

Treatment for Sturge-Weber syndrome is symptomatic and supportive. This can include medications to control seizures, physical therapy to manage weakness and coordination problems, and surgery to treat glaucoma or to remove or lighten the birthmark.

See Also

• Klippel-Trenaunay syndrome
• Parkes Weber syndrome

References

SWS Resources
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