STURGE-WEBER SYNDROME

What is it?

Sturge-Weber is a condition which consists of a birth mark always involving the forehead and a similar blood vessel abnormality on the brain surface (often called an angioma). Sometimes the birth mark may be on one side only, sometimes it is on both sides. Occasionally it may also be on the trunk or limbs, again on one or both sides.

By some process which probably involves depriving the underlying brain of some of its blood supply, the underlying brain shrinks, and specks of calcium appear in it. This process probably also causes the brain angioma to grow over the surface of the brain usually from the back towards the front.

Who gets it?

It is probably not hereditary. If a first child has it, the chances of further children having it are less than one in a hundred. There are cases on record of each in a pair of identical twins having it, and also of only one in a pair having it. There is also one record of both the father and the son having it but this is so rare that it is probably a coincidence. It seems that the hitch in blood vessel development is an accident of nature. Nothing that happens or does not happen in pregnancy seems to cause it.

What are the symptoms?

This brain involvement causes three main problems:

• About half the people with Sturge-Weber have significant learning problems. Significant means either needing special help in ordinary schools or going to a school for slow learners.
• Epilepsy occurs in up to nine out of ten people with Sturge-Weber.
• Weakness or stiffness down one side of the body affecting the arm, leg and side of face. This happens in about one-third of people with Sturge-Weber.

If the birth mark is on the eyelid, particularly the upper eyelid, this may cause increased pressure in the eye. This is called glaucoma. About one third of people with Sturge-Weber are at risk from this complication.

Sometimes only half the field of vision is present in each eye.

Treatment

Since we do not know the basic cause we cannot prevent it. Fits need controlling. Once the first fit has occurred, others will almost surely follow, so treatment with anti-convulsants should not be delayed. With development of newer anti-convulsants fit control is improving. However, there are a few people in whom anti-convulsants seem less effective. In these people neurosurgery, even in infants, may have real advantages and should be considered seriously.

Learning problems need careful evaluation by an educational psychologist. Parents will need to discuss their child's educational needs with the person making the assessment, and together with them decide how best to meet those needs.

Physiotherapists and occupational therapists can help people cope with hemiplegia. Traditionally, physiotherapists help with walking and occupational therapists with hand function. However, there is much overlap, so they may need to collaborate and you need to check if necessary with each of them that all difficulties are being addressed. The problem with eye pressure has already been mentioned.

If the pressure in the eye is increasing, it can often be controlled by eye drops. If not surgery may be necessary.

Laser treatment for removal of the port wine stain has been steadily improving. At the moment it appears that the pulsed dye laser is overtaking the Argon laser. Children are usually less bothered by the birth mark than are their parents, and in this situation there is something to be said for waiting for further improvements to occur and long-term results to become available. This work is only done by a very few centres in the NHS. A skin specialist (dermatologist) should be able to refer you to the nearest centre for up to date information and advice.