Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis)

What is Sturge-Weber Syndrome?

Sturge-Weber syndrome is a rare disorder that affects the brain, skin and eyes. It is also known as SWS. Sturge-Weber syndrome is named after the doctors who first described its characteristics in the 19th and 20th centuries.

Sturge-Weber syndrome is rare. However, the exact number of children affected by SWS is not known. Both boys and girls are affected equally and the condition can affect all ethnic groups.

Sturge-Weber is a sporadic disorder. It is not inherited and tends to develop during pregnancy. During the very early stages of pregnancy, the cells that form the brain and skin are very closely linked and abnormal development will affect both organs. Experts believe that SWS occurs when blood vessels continue to develop together, rather than splitting. This cause an extra layer of vessels to form over the brain surface.

What are the symptoms?

Children with Sturge-Weber syndrome usually have a port wine stain (a red-purple birthmark) on their forehead or scalp. Although the port wine stain is visible on the skin surface, it also affects the additional layer of blood vessels on the surface of the brain. This is known as angioma.

Angioma may increase the risk of seizures and delayed development.

How does Sturge-Weber syndrome affect children?

Children with port wine stains, especially on the face, may feel self-conscious about their birthmarks and suffer from low self-esteem. SWS can affect development and learning and it is common for children with SWS to reach growth and development milestones at a later age than those without the condition. Vision may be affected and some children have a compromised field of vision, which makes it hard to see things out of the very corner of the eye.

In some cases, children may also have hemiplegia, which means that one side of the body is weaker than the other (in this case, it is the side opposite to the port wine stain). This is caused by the abnormal growth of blood vessels. Weakness can affect children to different degrees and tends to follow three patterns: infant weakness, weakness associated with seizures and weakness linked to headaches.

Epilepsy is very common in children with SWS and around 8 in 10 children are affected in cases that affect both sides of the face. Most cases of epilepsy develop by the age of 5 and the onset is usually triggered by an infection or illness that causes fever.

1 in 3 children with SWS experience headaches on a regular basis. These headaches may be linked to seizures.

Children with SWS may suffer from glaucoma. Glaucoma occurs when pressure builds up inside the eye and it can result in blindness. Most cases of glaucoma develop during infancy. If a child has glaucoma, their vision will be assessed on a regular basis.

How is Sturge-Weber syndrome diagnosed?

The most obvious sign is usually a port wine stain on the forehead and/or scalp. If a doctor suspects Sturge-Weber syndrome, they will often order an MRI scan. In this case, a coloured dye known as gadolinium is injected to make the blood vessels more visible on the images.

What are the treatment options?

There is no cure for Sturge-Weber syndrome. However, there are treatments that can be used to address specific symptoms, including:

  • Laser treatment for port wine stains
  • Learning support for children at school
  • Physiotherapy and occupational therapy for hemiplegia
  • Medication (anti-convulsants) for epilepsy
  • Ophthalmic care for glaucoma and problems with the field of vision

What is the prognosis?

SWS affects children in different ways. Symptoms can vary from mild to severe and this has a major bearing on the outlook for the child.

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