What is Sturge-Weber syndrome? Also known as encephalotrigeminal angiomatosis, Sturge-Weber syndrome is a rare disorder that's characterised by neurological problems and a birthmark, known as a port-wine stain. This type of birthmark is caused by abnormal development of blood vessels in the skin. Usually it covers the forehead and at least one upper eyelid. It may involve one or both sides of the face and varies in colour from light pink to deep purple. Someone with Sturge-Weber syndrome may not have a port-wine stain, but this is quite rare. There is also an extra layer of blood vessels over the surface of the brain (angioma) which may be associated with seizures and developmental problems. Symptoms There are a number of health problems associated with Sturge-Weber syndrome, which may appear in the first year of life. The number and severity of the symptoms varies from person to person. Neurological problems include convulsions and weakness or paralysis on one side of the body, usually the other side to the port-wine stain. The convulsions have often begun by the time a child reaches their first birthday. The eyes may be affected by glaucoma, a condition in which a build-up of fluid causes an increase in pressure. If left untreated, damage to the optic nerve and nerve fibres in the retina may occur, which may result in blindness. Other symptoms include developmental delay, learning difficulties and headaches. However, the internal organs are rarely affected. Causes and risk factors Sturge-Weber syndrome is a congenital condition - it's present at birth, but isn't thought to be hereditary. The cause of this condition isn't known and it's not possible to prevent it from occurring. The condition affects children from all cultures and affects boys and girls equally. It is not known exactly how many people have Sturge-Weber syndrome, some estimates say 1 in 50 000. Treatment and recovery Although there's no cure for Sturge-Weber syndrome, it isn't fatal. Treatment depends on the problems being experienced. It may include anticonvulsant medicine for convulsions, physiotherapy for paralysis or weakness, eye drops or surgery for glaucoma, and laser therapy for port-wine stains.
This article was last medically reviewed by Dr Orlena Kerek in March 2009
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