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What is Sturge-Weber syndrome?

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Sturge-Weber syndrome is a neurological condition in which individuals have a pink-to-purple birthmark, called a port-wine stain, on their foreheads and one upper eyelid upon birth, explains the National Institute of Neurological Disorders and Stroke. The birthmark is the result of a large number of capillaries surrounding the trigeminal nerve.

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Patients with Sturge-Weber syndrome may experience neurological symptoms such as seizures, developmental delays and migraine headaches, notes the NINDS. One reason for these neurological deficits is that those with the condition have abnormal blood vessels on the surface of their brains. In the cerebral cortex of the brain, they also have both calcified tissue and a loss of nerve cells on the same side where they have the characteristic port-wine stain birthmark. In the case of seizures, it is usually the side of the body opposite the birthmark that experiences convulsions. Oftentimes, these seizures first appear during infancy, and they sometimes increase in severity as patients grow older.

Most individuals with Sturge-Weber syndrome have glaucoma, which may result in the eyeball bulging out of the socket due to increased pressure, states the NINDS. Glaucoma may be present at birth, or it may appear later on in life. Doctors treat symptoms of Sturge-Weber syndrome separately, rather than treating the condition as a whole. For example, anticonvulsant medications can prevent seizures, while laser therapy is useful for making the birthmark less noticeable or removing it all together.

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