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.
Most children with Sturge-Weber syndrome will develop epilepsy. They may start having seizures, which can vary from child to child but often occur as focal onset seizures. This type of seizure usually causes jerking on one side of the body. Seizures usually start during the first year of life.
If a child has a port wine birthmark (angioma) caused by Sturge-Weber syndrome, it is usually noticeable at birth. It is caused by abnormal development of very small blood vessels in the skin, which usually develop during pregnancy.
A port wine stain is usually a flat, red or purple mark on the face. Over time, the port wine stain may become thicker, darken and become raised – but this is not very common.
As a result of the birthmark, some children with Sturge-Weber syndrome will have weakness in the opposite side of their body from the side with the port wine birthmark. This is called Hemiparesis.
Hemiparesis causes weakness or loss of function in one side of the body. It can vary from child to child. And how severe the weakness is will depend on the child’s seizures. Some children may have episodes of weakness without seizures, similar to strokes in adults.
Some children with Sturge-Weber syndrome may also experience the following other symptoms:
- Vision problems – difficulty seeing objects out of the corner of their eye (visual field defects) or an eye condition called glaucoma. Glaucoma is caused by raised pressure in the blood vessels around the eye.
- Headaches – severe headaches, similar to a migraine.
- Learning and developmental delays –mild or severe developmental problems. Learning delays may happen more often in children who have more frequent or severe seizures.
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.
How are the symptoms treated?
For children with Sturge-Weber syndrome, anti-seizure medications are usually the first line of treatment for their epilepsy.
The child may have to try different treatments or a combination before they find something which works well.3 Remember, every child with Sturge-Weber syndrome is different and what works for one child will not necessarily work well for someone else.
If anti-seizure medications do not work well, epilepsy neurosurgery or vagus nerve stimulation may be offered. The child’s doctor will talk to you about these options, including the risks and benefits, and if they’re suitable for your child.
If your child has a port wine birthmark on their face, it may affect them emotionally and have an impact on their social life, especially as they get older. Talking to a psychologist, a professional who is trained to listen, may be helpful. Contact your child’s doctor to ask about being referred for psychology services. Or you can refer yourself on the NHS website.
Treatment options for port wine birthmarks are limited, but they can usually be managed well by make-up or laser treatment when the child is older.
Children who have episodes of weakness in one side of their body may find it helpful to have regular sessions with a physiotherapist. They will help to improve the loss of movement through gentle and suitable exercise.
People who have weakness in one side of their body may find it hard to do everyday tasks. Ask the child’s doctor about being referred to an occupational therapist. They may be able to offer advice on equipment and ways to help with tasks that your child finds hard.
For some children with Sturge-Weber syndrome, their doctor may suggest trying a daily dose of aspirin. This is thought to reduce the ‘stickiness’ of the blood and the episodes of severe weakness.
Children with vision problems, caused by Sturge-Weber syndrome, may be referred to an ophthalmologist (a doctor who specialises in diagnosing and treating eye conditions). They may suggest ways of reducing the impact of visual problems, such as visual field defects. For example, putting objects such as toys and games clearly for the child to see may be helpful.
If a child has glaucoma, they will have the pressure within their eye checked regularly by an ophthalmologist. They may also be prescribed eye drops, which work well at treating glaucoma. If children have very severe vision problems, they may need support from a specialist teacher at school.
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
