This information is for people affected by or concerned about Sturge-Weber syndrome.
On this page we talk about how Sturge-Weber syndrome is diagnosed, what causes it, symptoms, treatment options and long-term outlook.
Use this page as a general guide and speak to a health professional for more information and support.
On this page
What is Sturge-Weber syndrome?
Sturge-Weber syndrome is a rare neurological condition that occurs from birth (congenital) and can cause epilepsy. Children with Sturge-Weber syndrome usually have a birthmark (sometimes called a ‘port wine stain’) on their face.
Sturge-Weber syndrome is part of a group of syndromes called neurocutaneous syndromes. They are disorders that affect the brain, spinal cord, organs, skin, and bones.
It is thought to affect about one in every 50,000 people worldwide. And it affects boys and girls equally.
What causes Sturge-Weber syndrome?
Sturge-Weber syndrome is caused by changes to a gene (mutation) known as ‘GNAQ’. This usually happens early in pregnancy, before a baby is born. Therefore, it is not an inherited condition, which means that it is not passed from a parent to their child.
What are the signs and symptoms of Sturge-Weber syndrome?
Children with Sturge-Weber syndrome have a wide range of symptoms. These include:
- Seizures
- Port wine birthmark
- Hemiparesis (weakness on one side of the body)
- Other symptoms including vision problems, headaches and glaucoma.
We describe each of these symptoms in more detail below.
How is Sturge-Weber syndrome diagnosed?
If you think a child has epilepsy, including epilepsy caused by Sturge-Weber syndrome, contact a doctor. Children and young people may be referred to a paediatrician (a doctor who specialises in child health). Or they may be referred to a doctor who specialises in diagnosing and treating rare types of epilepsy, such as Sturge-Weber syndrome. The child’s doctor may suggest doing the following tests:
- A magnetic resonance imaging (MRI) scan – a scan that uses magnetic fields and radio waves to produce images from inside the body. The MRI scan uses a dye called gadolinium to make the blood vessels show up more clearly. This will confirm the diagnosis.
- Genetic testing will also identify if there is a difference in the child’s GNAQ gene.
If a child has a port wine birthmark (angioma), this immediately suggests that the child may have Sturge-Weber syndrome. If you notice a birthmark on your child’s face, contact their doctor.
Treatment for Sturge-Weber syndrome
Because Sturge-Weber syndrome has a number of symptoms, a range of health professionals will be involved in a child’s treatment, including:
- Neurologists – a doctor who specialises in diagnosing and treating conditions of the brain, spinal cord and nerves.
- Dermatologists – a doctor who specialises in skin, hair and nails.
- Ophthalmologists – a doctor who specialises in diagnosing and treating eye conditions.
- Psychologists – health professionals who are trained to listen and help manage a person’s mental health.
- Physiotherapist – a specialist who helps to restore movement and function in people who have been affected by injury, illness or disability.
- Occupational therapist – a health professional who improves a person’s ability to do everyday tasks, for example by providing equipment for their home.
- A child development team – a range of health professionals who will help your child with their behaviour and development.
What’s the long-term outlook for people with Sturge-Weber syndrome?
The long-term outlook for children with Sturge-Weber syndrome varies from person to person. The outlook of the condition depends on how much of their brain is affected and the severity of their seizures.
Children whose seizures are well controlled, with the correct medication and support, are likely to have better outcomes than those who have frequent seizures that last a long time. Anti-seizure medications are effective in preventing seizures in around 5 in 10 patients.
Most children with Sturge-Weber syndrome will have some level of learning difficulties and experience delays in their development. These children are likely to need additional support in education.
Living with Sturge-Weber syndrome and getting support
Having a child with any form of epilepsy can be challenging and upsetting. But if the type of epilepsy they have is very rare, it can be even harder to manage and come to terms with. Talk to the child’s doctor for help on how to support them well. And talk to your own doctor if you need support for yourself. If you’re caring for someone with Sturge-Weber syndrome, it’s important that you look after yourself and get the support you need.
You may find it helpful joining an in-person or online support group, where you can listen to or share experiences with other people who understand what you’re going through.
Other useful organisations
Sturge Weber UK
Information and events
Changing Faces
Changing Faces
www.changingfaces.org.uk
Information, helpline, support groups and events