What is Sturge-Weber Syndrome?
Sturge-Weber Syndrome is a congenital condition characterized by a port-wine stain on the face (nevus flammeus), combined with neurological problems such as epilepsy, loss of strength or developmental delay. The syndrome is named after 2 doctors who extensively described this clinical picture. It is also abbreviated with SWS.
What causes Sturge-Weber Syndrome?
SWS is een genetische aandoening. De aandoening ontstaat als het GNAQ eiwit dat het lichaam maakt te actief is. Het “recept” voor de aanmaak van het GNAQ eiwit ligt opgeslagen in ons erfelijk materiaal, het DNA. Het DNA bevat de genetische code voor onze erfelijke eigenschappen, de genen. Het DNA is verpakt in chromosomen. Bij SWS zit de fout in het GNAQ gen op chromosoom 9. Dat genetisch defect kan ontstaan op het moment van de bevruchting, maar meestal ontstaat het later tijdens de ontwikkeling. Dan is slechts een bepaald deel van het lichaam aangedaan. Dit noemt men een mozaïek verandering van het DNA.
SWS is a form of a “capillary malformation syndrome”. “Capillary” indicates the involvement of the small blood vessels (capillaries, capillaries in English) and the word “malformation” indicates that these blood vessels are not properly constructed. In SWS, the small blood vessels in part of the skin of the face, the meninges and sometimes the eye are abnormally constructed during early embryonic development. Usually the small blood vessels on 1 side of the face are involved, and the eye and brain are affected on the same side. This is because the genetic change is only present in the cells in this specific part of the body. Due to the altered blood supply, the affected part of the skin of the face turns red, increased pressure in the affected eye (glaucoma) and a part of the brain can function less well, which can cause epilepsy or weakness of an arm or leg.
How common is Sturge-Weber Syndrome?
SWS affects 1 in 20,000 to 50,000 people. Boys and girls are equally affected. There are approximately 100 patients with SWS (children and adults) in the Netherlands.
Not all children with a port-wine stain on the face have SWS. Only when there are neurological abnormalities is it called SWS. One in 12 children with a port-wine stain eventually has SWS. The examination of children with a port-wine stain is therefore focused on possible additional problems.
Diagnosis can be made based on the presence of a port-wine stain and an MRI of the brain.
An MRI scan of the brain can show whether the small blood vessels of the brain are also constructed differently. Usually it concerns the blood vessels of the meninges, which lie around the brain, but sometimes the blood vessels in the brain itself also participate. The affected hemisphere may shrink somewhat as a result of the altered blood supply and some calcification of the brain surface may also be seen.
A large proportion of children with SWS (75-95%) develop epilepsy from the brain area with the abnormal blood supply. The pediatric neurologist will therefore ask for signs of epilepsy and often also make an EEG to see if the brain shows epileptic activity.
Ophthalmologist (eye doctor)::
One in three children has an increased eye pressure (glaucoma) as a result of the altered blood supply to the affected eye. Children with SWS must therefore be examined by an ophthalmologist.
The Sturge - Weber consultation hour
The children with a nevus flammeus in the face and a demonstrated or suspected involvement of neurological problems are seen at the multidisciplinary Sturge-Weber consultation hour. The specialists who participate in this are: a pediatric neurologist, pediatric dermatologist and specialized pediatrician. The team also includes an ophthalmologist and pediatric neuroradiologist. A nurse specialist is also involved for children with epilepsy.
There is no cure for SWS. Treatment is aimed at controlling symptoms:
Port-wine stain / nevus flammeus:
Laser therapy can reduce the red coloring of the skin on the face.
Children with SWS are treated with aspirin to keep the blood vessels circulating properly. A low dose can reduce or prevent unilateral paralysis episodes ("stroke-like episodes").
Epilepsy is first treated with anti-epileptics: medicines for epilepsy. For some children this does not help enough and additional therapies are possible in the form of a ketogenic diet, vagus nerve stimulation or epilepsy surgery.
Children with SWS are more likely to suffer from migraine headaches. This migraine is treated in the same way as a migraine without SWS, with drugs to treat a headache attack and sometimes also drugs to reduce the frequency of headache attacks.
Increased eye pressure / glaucoma:
An increased eye pressure is first treated by means of eye drops that lower the pressure. If that does not help, surgery is sometimes required.
Pediatric neurologist and coordinator: Drs. S.M. Koudijs
Dermatologist: Prof. Dr. Suzanne Pasmans
Pediatrician: Dr. Peter de Laat
Radiologist: Dr. Marjolein Dremmen
Epilepsy nurse: Mrs. J.E. Rietveld
In order to provide the best possible care to patients with a rare condition, it is essential that global knowledge about the condition is gathered. Nationwide, centers of expertise have been set up to stimulate care for rare disorders and to gather knowledge. For the formal recognition of an expertise center by the Ministry of Health, an important condition is that the expertise center gathers, analyzes and shares knowledge through publications. These can be publications in scientific journals, but also treatment guidelines for health care professionals or information brochures for patients or caregivers. We optimize care and research within ENCORE through standardized follow-up and close collaboration between doctors and researchers. That way, we can ultimately develop better treatments for rare conditions. You may therefore be asked to participate in research. Participation in research is always on a voluntary basis. The data obtained is stored and analyzed in an anonymous form. All research has been approved in advance by an ethics review committee.
To learn more about research on Sturge-Weber at ENCORE, click here