https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/neurodisability-information-parents-and-visitors/clinics-and-services-related-wolfson-neurodisability-service/sturge-weber-and-neurocutaneous-syndromes-service/information-for-parents-with-infants-newly-diagnosed-with-sturge-weber-syndrome/

Information for parents with infants newly diagnosed with Sturge Weber Syndrome

Sturge Weber syndrome (SWS) is condition in which there is usually a birthmark (port wine stain) involving the forehead or eye lid area, a layer of extra blood vessels over the surface of the brain (pial angioma) and sometimes extra blood vessels in the lining of the eye (choiroidal angioma).

We know now that this condition is caused by a change in the GNAQ gene at some point in early pregnancy. This change in the gene happens by chance, and is not caused by anything the parents did or did not do. It is thought that the timing of the change is likely to account for the variability seen.

The way Sturge Weber presents and affects each child varies, with some more affected than others. The following explains the different medical and developmental difficulties that children with Sturge Weber may have in childhood

Epilepsy

Epilepsy is a term used when a person has recurrent seizures. However, in SWS where there is an underlying cause and known association, we would give this diagnosis after one seizure.

A review of the children that we have seen in our clinic showed that about 80% of children with SWS will develop seizures in childhood, and that most of them will develop seizures before the age of two. We recognise that’s as a specialist centre, we may be more likely to see the children with SWS who have seizures, so this could be an overestimate.

Seizures can be triggered by an illness or high temperatures in infants. In a slightly older child, there may be other triggers such as tiredness or sometimes bumping their head. It is helpful to be aware of these triggers, but it is important that your child has their immunisations to protect them from diseases, and are able to take part in all the activities that other babies and toddlers enjoy.

Children with SWS who have epilepsy can have different types of seizures, but usually, the seizures are jerking or twitching movements affecting one side of the body, which can spread to affect both sides. Seizures in babies can be quite subtle, and can present with episodes of undue floppiness, not responding as usual, stiffness of body or limbs, eyes fixed to one side or any changes in colour or breathing.

If you are concerned that your child might be having a seizure, you should call an ambulance and be seen by the Paediatric Team at your local hospital as soon as possible. Great Ormond Street Hospital does not have an emergency department.

During a seizure, try to place the child on their side, in a safe space, and never put anything in their mouth. It is helpful to note the time the seizures start and end. If safe and possible, videoing a seizure can be helpful.

- We recommend that in SWS any seizure lasting five minutes or longer should be treated by medication to stop seizures.

- The paramedics can administer emergency treatment when they arrive. There is a clear and nationally agreed protocol for emergency treatment of seizures in babies and children, called the APLS protocol for seizures, which should be followed.

- In SWS or children who are at risk of SWS (eg Have a port wine stain awaiting MRI), it is crucial that treatment is not delayed for any reason.

- The local paediatric team should contact your regional paediatric neurology service for advice. The neurology on-call team at Great Ormond Street can also be contacted by local professionals at any time for further advice, but this should not delay emergency treatment of seizures as per APLS guidelines.

In the first instance, epilepsy is treated with medication, and there are a number of different types that all aim to prevent seizures from happening. These are given regularly, usually twice a day, with the dose adjusted as the child grows. It is important that these medications are not stopped or dose changed without medical advice.

For some children with SWS, epilepsy surgery may be an option if medication does not control seizures adequately.

We do not know for sure. However, there is some published evidence that starting an antiepileptic medication before seizures happen may modify the onset of seizures. In line with other centres specialising in SWS around the world, we are now offering families the option of starting a preventative antiepileptic medication after diagnosis of SWS, but before seizures occur.

- Seizures in SWS often occurs in “clusters”, which is many seizures over a short period of time (hours or days).

- They are often prolonged, and can be difficult to control.

- They can also be associated with setbacks in developmental skills, and the development or worsening of a weakness of one side of the body (acute hemiparesis).

Other conditions associated with SWS

  • Children with SWS may show weakness in the opposite side of body to the angioma of the brain. This can be seen early on, but become more obvious in time, and can worsen if they have seizures. Sometimes this can be due to changes in blood flow, and they are sometimes called “stroke like events”.
  • Children with SWS can have difficulties with their eyes and vision, including glaucoma, restriction in their visual fields and impaired vision. Children with SWS will need input from a paediatric ophthalmology team who will monitor and treat as appropriate.
  • Particularly in adolescence, headaches can be a feature of SWS, which can sometimes have features of migraines, including nausea and vomiting and visual disturbances.
  • Some children with SWS will have developmental problems including difficulties with their learning and language, as well as autism and attention difficulties. Sometimes these difficulties are seen at an early age, but some difficulties may become more apparent as the child grows older. This is one of the reasons we monitor children so closely in our clinic, particularly in early childhood, to pick up on any developmental challenges that might arise and aim to instigate support and treatment as soon as possible, working together with local services.

Specific treatments and support for children with SWS

We usually recommend starting this medication at a low dose when Sturge Weber syndrome is confirmed. This is used to try to prevent the stroke like events associated with SWS. If your child were to require surgery, we would in some cases stop aspirin for a period of time due to blood thinning effects. We recommend the chickenpox vaccine (given over age of 1 year) for children on long term aspirin due to concerns of complications of chicken pox whilst taking aspirin.

These can be started either as a preventative or treatment for seizures.

Children with SWS may require input from some of the professionals listed below. The type of input will vary somewhat depending on your child’s needs and age, as well as the set up of local services.

- Local paediatrician. It is essential that the child has a named paediatric consultant at your local hospital.

- Local epilepsy specialist nurse. If there are seizures, the local paediatric epilepsy nurse can also be a very helpful point of contact, advice and support.

- Local child development centre. Particularly if there are concerns about your child’s development, it will be important that they are also known to a local multidisciplinary team to monitor and support their development, and help you access services in your area. This team can include a community paediatrician, who specialises in child development, speech and language therapists, physiotherapists, occupational therapists, early education services (sometimes called portage), community nurses and social workers.

- Neurology team. Depending on where you live, GOSH may be your nearest specialist paediatric neurology centre. However, particularly if you live further away, another neurology team may be closer, and particularly if seizures are a feature, it is important for your child to be seen by your nearest paediatric neurology team as well as our team.

- Child and adolescent mental health services (CAMHS).

- Ophthalmology team with experience in children to monitor and treat associated issues with eyes and vision.

- Dermatology team who can advise on and treat port wine stains if families wish.

This is a UK based family support group, with website information and a facebook group.

We run a multidisciplinary clinic at GOSH, where we see children with Sturge Weber and other neurocutaneous conditions. In this clinic we aim to address medical and developmental concerns, working closely with local teams. For more information, see our website page.

Sturge Weber UK

Infant epilepsy

Changing faces (birth mark)

Glaucoma

Laser treatment

Port Wine Stain: Information for families

If you would like to contact a member of our team, please contact our service coordinator who will relay your message to the appropriate team member:

Sturge-Weber and Neurocutaneous Condition Service

The Wolfson Neurodisability Service

Level 10 Main Nurses Home

Great Ormond Street Hospital

London WC1N 3JH

Tel: 0207 7405 9200 ext: 1144

Clinic Email: SWC.Admin@gosh.nhs.uk

Referrals: gos-tr.neurodisabilityreferrals@nhs.net