Sturge-Weber syndrome

Epilepsy Action is indebted to Dr Richard Appleton, a Consultant Paediatric Neurologist who specialises in children’s epilepsy, and to Dr Rachel Kneen, Consultant Paediatric Neurologist and Dr Stewart Macleod, Specialist Registrar in paediatric neurology, at Alder Hey at Alder Hey Children’s Hospital, Liverpool, who have kindly prepared the information on this page.

The Sturge-Weber syndrome is a rare condition in which the presence of a birthmark (port wine stain), usually on one side of the face, is associated with an abnormality of the brain caused by abnormal blood vessels on the surface of the brain. This abnormality usually results in epileptic seizures and other problems.

Sturge-Weber syndrome is usually a spasmodic occurrence - in other words it does not run in families. It is very, very rare for two children in the same family to have Sturge-Weber syndrome.

Symptoms

The first abnormality noted in Sturge-Weber syndrome is the birth mark. This is flat and deep red. It is due to abnormalities of the very small blood vessels in the skin. The medical word for this abnormality is ‘angioma’. The most common site for the birth mark is the forehead on one side of the face, often coming down on to the cheek, nose or upper lip. Rarely, both sides of the face are involved and on occasions similar birth marks are present on other parts of the body.

Seizures develop in over two thirds of all children with Sturge-Weber syndrome. They may start at birth or later in the first year of life. They are usually partial motor seizures involving jerks of one side of the body only. The seizures may become generalised and evolve into other types such as drop attacks, myoclonic or infantile spasms.

The seizures are often very frequent and prolonged seizures may occur. This may result in status epilepticus (status epilepticus means “a prolonged seizure, or a series of seizures without regaining consciousness in between” – and which need urgent medical attention.)

After frequent or prolonged seizures, a weakness in one side of the body (hemiparesis or hemiplegia) frequently develops. The severity of weakness is closely related to the frequency and severity of the seizures.

The seizures may be resistant to drug treatment. As the child grows the weakness may become more severe and permanent. Often, abnormalities of vision develop with an inability to see on the same side as the weakness (hemiaropia).

The abnormal blood vessels may involve the eye and result in an abnormality of the drainage of fluid within the eye. This results in raised pressure in the eye (glaucoma) which may be present at birth and may cause visual impairment if not treated.

Learning difficulties are present in up to two out of three children with Sturge-Weber syndrome. In some children severe learning difficulties develop. The more frequent and the more severe the seizures, the greater is the severity of the learning difficulties.

Causes

The cause of this syndrome is unknown. It is a type of malfunction of the development of the blood vessels over part of the brain. This occurs during pregnancy, probably quite early on.

The abnormal blood vessels are usually over the back part of the brain (the occipital lobe). They may be in other regions of the brain and, rarely, on both sides.

The blood vessel abnormality leads to abnormal functioning of the brain in the same region, which is the cause of the epilepsy. As the child grows, the brain on the affected side may become shrunken (atrophy) and deposits of calcium occur in the abnormal vessels and underlying brain. This may show up on a skull X-ray or CT brain scan.

Treatment

Treatment is mainly directed towards trying to control the frequent seizures. This is because the prognosis depends very much on controlling the seizures. This may be possible with anti-epileptic drug treatment.

However, in many cases the epilepsy is resistant to treatment. In these cases early consideration is given to surgical treatment – that is removing part of the brain. This surgical treatment is called a hemispherectomy or hemispherotomy. It involves removing or disconnecting part of the brain in more severe cases in the region of the abnormal blood vessels.

The outcome from surgical treatment may be excellent. Treatment of glaucoma, if it develops, is possible and laser treatment may be very effective for the birth marks.

Prognosis (outlook)

The prognosis depends on the extent to which the brain is affected. This seems closely linked with the severity of the seizures.

If the seizures are frequent, prolonged and difficult to control then the learning difficulty, hemiplegia and visual problems are more severe. If the seizures are controlled then a much better (but not necessarily normal) outcome can be expected.

If the abnormality is present on both sides of the brain the outcome is usually poor because the seizures are more severe and the learning difficulties are greater.

Support organisations

Sturge-Weber Foundation (UK)
Burbeigh, 348 Pinhoe Road, Exeter, EX4 8AF
Tel: 01392 464675
E-mail: support@sturgeweber.org.uk
Web: http://www.sturgeweber.org.uk

Contact a Family, 209-211 City Road, London, EC1V 1JN, telephone 0808 808 3555, www.cafamily.org.uk

14 March 2007