Sturge-Weber syndrome is characterized by a reddish discoloration of the skin on one side of the face (port wine stain) and malformation of blood vessels of the brain [See figure 1].
No. The reddish discoloration of the face may be an isolated finding. Sturge-Weber syndrome is diagnosed when the brain is involved as well.
Abnormal brain vessels may cause a variety of symptoms. Seizure activity, neurological deficits, developmental delay, and weakness are some of the more common findings. Many children, however, have normal intelligence and development.
Neuro-imaging studies (CT scan / MRI), may be utilized to evaluate for abnormal vascularity of the brain.
Sturge-Weber syndrome is not a genetically inherited disease. The abnormalities associated with Sturge-Weber syndrome develop very early in pregnancy - probably between the second and third month of pregnancy.
The port wine stain is usually noted shortly after birth. Further testing may reveal involvement of the brain (Sturge-Weber syndrome).
Redness (port-wine stain) of the skin is caused by numerous, dilated, small blood vessels. The forehead and upper eyelid are often involved while the lower eyelid and cheek are occasionally involved.
The skin appearance can be improved in some situations by laser treatment.
The surface of the eye occasionally has large, dilated vessels which cause a pink or red eye appearance. Blood vessel abnormalities can occur inside the eye as well.
Glaucoma is the most serious eye problem associated with Sturge-Weber. About 50% of children with Sturge-Weber develop glaucoma between infancy and later childhood. Symptoms of glaucoma include a large and/or cloudy eye, light sensitivity, and excessive tearing.
If the visual areas of the brain are involved, a defect in the right or left visual field may result. Children should have regularly scheduled examinations by an ophthalmologist to monitor for eye problems.
Drops may be used to help control the pressure, but surgery may also be indicated.
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