Sturge-Weber syndrome, also called encephalotrigeminal angiomatosis, is a rare brain disorder that causes seizures and other neurological symptoms, which may include glaucoma, learning disabilities, intellectual disabilities (formerly called mental retardation), complete or partial paralysis of one side of the body, and muscle weakness. The severity and specific types of symptoms vary considerably among patients.
The condition is present at birth, and it is almost always characterized by a large port-wine stain birthmark that covers the forehead and at least one upper eyelid. This birthmark, which varies in color from light pink to dark purple, is made up of dilated blood vessels called capillaries. Patients also experience a loss of nerve cells and hardening of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark.
Worldwide, about one out of 200-400 individuals are born with port wine stains each year. However, not all children with port wine stains have Sturge-Weber syndrome. Some research suggests that about one out of 50,000 people in the United States have Sturge-Weber syndrome.
Although the disorder is present at birth, it does not appear to be an inherited condition that is passed down among families. Researchers are currently performing studies to learn more about the potential causes of Sturge-Weber syndrome.
Symptoms can range from mild to severe, depending on how much of the brain is affected. Some individuals may have mild and infrequent seizures, while others may have more severe and prolonged seizures along with other neurological symptoms.
Although there is currently no cure for Sturge-Weber syndrome, it is not a fatal condition. Treatment focuses on reducing symptoms and improving the patient's quality of life.
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