Back Print

Sturge-Weber syndrome

Background

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, meaning it affects both the skin and central nervous system. SWS is characterised by an abnormality of the blood vessels on the surface of the brain, the skin of the face and the inner part of the eye. The abnormality of the blood vessels is due to the growth of benign (non cancerous) tumours, known as angiomas.

Credits

Medical text written August 2010 by Leena D Mewasingh, Consultant Paediatric Neurologist and Honorary Senior Clinical Lecturer, St Mary's Hospital, Imperial College Healthcare NHS Trust, London, UK.

What are the symptoms?

The most common sign of the condition is the 'port wine' stain on the face, named because of its colour. However, in about 13 per cent of cases there is no port wine stain.

Some of the neurological problems that children can suffer from include:

  • headache
  • hemiparesis (weakness down one side of the body)
  • overgrowth of one side of the body
  • seizures - these can sometimes be difficult to control
  • frequent 'stroke-like' episodes
  • eye abnormalities - including glaucoma and buphthalmos (enlargement and protrusion of the eye), which can occur because of the high pressure within the eyeball. In severe cases this can lead to blindness
    learning disability.

Problems with learning and development are more common when angiomas are found on both sides of the brain (involving the right and left brain hemisphere).

Symptoms in SWS can vary a lot. This is because the symptoms are often related to where the angiomas on the brain surface are found and how widespread they are.

How is it diagnosed?

A detailed clinical examination is the first step to diagnosing SWS. Brain scans - computed tomography (CT) or a magnetic resonance imaging (MRI) - are also performed. These provide more information than can be obtained clinically, including revealing whether both brain hemispheres are affected and if there is any cortical atrophy (shrinking of the surface of the brain). If the child suffers from seizures then an electroencephalogram (EEG) is also needed. Regular eye check ups by a specialist is also important.

How is it treated?

Management of SWS remains symptomatic, meaning that the symptoms of the condition are treated rather than the underlying cause and this will involve a number of specialists.

Anticonvulsant medications are often used to control seizures. Where seizures are difficult to control, two or more anticonvulsant drugs may be used at once. Surgery is considered where anticonvulsant drugs cannot control the seizures; this is only carried out in highly specialised children's centres. Laser therapy can be used to lighten the port wine stain or remove it. Medications are used to treat glaucoma, but if these fail to work, then eye surgery is considered.

Physiotherapists and occupational therapists are often involved early on in the care of infants and children with weakness and/or learning disability. Input from an educational psychologist is often indicated for children with learning disability.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
SWS is not passed on from a parent to their child. It is thought to be something that occurs by chance in most cases.

Prenatal diagnosis 
None at present, although with increasing use of antenatal fetal MRI scans this could evolve.

Is there support?

Sturge Weber UK

Tel: 01392 464 675
Email: support@sturgeweber.org.uk
www.sturgeweber.org.uk

Sturge Weber UK is a Registered Charity in England and Wales No. 1016688. It provides information and support for families and adults affected by Sturge Weber syndrome. The Organisation holds a family weekend every eighteen months when doctors and other professionals talk about relevant topics.

Group details last updated August 2014.