Sturge-weber syndrome

[Julian]

Sturge-Weber syndrome involves an abnormal growth of small blood vessels. It is characterized by a port-wine birthmark on the face, overgrowth of blood vessels (angioma) in the tissues that cover the brain, or both.

Sturge-Weber syndrome is caused by a mutation in a gene.
This disorder can cause seizures, weakness, intellectual disability, and increased pressure in an eye (glaucoma) and can increase the risk of stroke.
If children have a typical birthmark, doctors suspect the disorder and may do an imaging test of the head to check for angiomas.
Treatment focuses on relieving or preventing symptoms.

Sturge-Weber syndrome is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous).
Sturge-Weber syndrome is present at birth in about 1 of 50,000 people but is not inherited. It is caused by a spontaneous mutation in a gene.
This syndrome affects blood vessels, particularly vessels in the skin, in the tissues that cover the brain, and in the eye. The port-wine birthmark is caused by an overgrowth of small blood vessels (capillaries) just under the skin. Angiomas (overgrowths of capillaries in the tissues covering the brain) cause seizures and may cause weakness on one side of the body. Angiomas may reduce blood flow in the part of the brain under them. Similar abnormal blood vessels in the eye may increase pressure within the eye (causing glaucoma) and affect vision. Abnormalities in the walls of arteries may increase the risk of strokes.