Sturge Weber syndrome
- Article
- 2021-03-09
Sturge-Weber syndrome is a neurological condition indicated at birth by a port-wine stain on the forehead and upper eyelid on one side of the face. The birthmark can range in color from light pink to deep purple and is caused by an abundance of capillaries around the trigeminal nerve just below the surface of the face. Sturge-Weber syndrome is also associated with abnormal blood vessels on the surface of the brain and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Neurological symptoms include seizures that start in childhood and can worsen with age. Convulsions usually occur on the side of the body opposite the birthmark and vary in severity. On the same side, there may be intermittent or permanent muscle weakness. Some children will have developmental delays and cognitive impairments; most will have glaucoma (increased pressure in the eye) at birth or develop later. The increased pressure in the eye can cause the eyeball to enlarge and protrude from the socket (buftalmos). There is an increased risk of migraines. Sturge-Weber syndrome rarely affects other body organs.
Therapy
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment can be used to lighten or remove the birthmark. Anticonvulsant medications can be used to control seizures. Individuals with drug-resistant seizures can be treated by surgical removal of epileptic brain tissue. Surgery may be performed in more severe cases of glaucoma. Physiotherapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for people with impaired cognition or developmental delay. Doctors recommend annual checkups for glaucoma.
Prognosis
While it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most babies will have spasmodic attacks during their first year of life. There is a greater likelihood of intellectual disability when attacks start before 2 years of age and are resistant to treatment. The prognosis is worst in the minority of children in whom both hemispheres of the brain are affected by blood vessel abnormalities.
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