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Sturge-Weber syndrome, sometimes called encephalotrigeminal angiomatosis, is a rare condition present at birth that affects the brain, skin and eyes. Children with this disorder typically have a purple or pink birthmark, called a port-wine stain, which is most often on the skin of the scalp or forehead. They may suffer from fits, or seizures, learning problems and weakness on one side of their body. A condition known as glaucoma, where the pressure in the eyeball is too high, is also found with this syndrome. Sturge-Weber syndrome varies from person to person, ranging from mild to severe, and, although it cannot be cured, the symptoms can be treated.
Children do not inherit Sturge-Weber syndrome from their parents, and there is nothing a parent can do before or during pregnancy to prevent the condition from occurring. Not all children with a port-wine birthmark will have the condition. The cause of Sturge-Weber syndrome is thought to be abnormal development of blood vessels in the brain while a baby is in the womb. An additional layer of blood vessels, known as an angioma, forms on the outside of the brain, leading to neurological symptoms such as seizures and learning difficulties. As the development of the brain and skin are closely related, blood vessels in the skin also grow abnormally, causing the birthmark to appear.
Since there is no cure, the management of Sturge-Weber syndrome involves treating each of the symptoms, which usually requires the skills of many different medical specialists. The delayed development and learning problems that can be associated with Sturge-Weber syndrome may require extra educational support. Port-wine stains can cause psychological problems, and laser treatment is sometimes used to lighten them.
Anticonvulsant drugs may be taken to control seizures. Following exercise programs and taking regular doses of aspirin have been found to help minimize the weakness that affects the body. Around a third of people with Sturge-Weber syndrome suffer from headaches, and medications are available to treat these.
If glaucoma is present, drugs can be used to lower the pressure inside the eye, or, in severe cases, surgery may be needed. Surgery is also sometimes required to treat seizures if they are not controlled by medication. Occasionally, Sturge-Weber syndrome is associated with a visual blind spot, but practical strategies can usually be learned to deal with this problem. The outlook for the condition varies according to how severely an individual is affected.
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