Madisons Foundation - Moms And Dads In Search Of Needed Support

What

The Sturge-Weber syndrome is a nerve and skin disorder with non-cancerous growths composed of blood vessels (called angiomas) that involve the skin of the face, the eye, and the membranes covering the brain and spinal cord. As a result, most people have a birthmark called a port-wine stain over the skin around one eye, glaucoma (increased pressure in the eye) and possibly seizures. Children may suffer repeated stroke-like episodes that result in learning disorders and movement disabilities.

Who

The incidence of Sturge-Weber syndrome (SWS) is 1 in 50,000 children. Infants are born with this disease, although it may not be diagnosed right away. It is not thought to be inherited. There are no regional or racial differences in incidence, and both sexes are equally affected.

Signs and Symptoms

• Large birthmarks on the face (called port wine stains)
  
• Focal or generalized seizures
  
• Mental retardation
  
• Behavioral problems
  
• Gradual weakness on one side of the body
  
• Glaucoma
  
• Headaches

Possible Causes

SWS results when blood vessels normally present in the face and brain during fetal life fail to regress at the proper time. It is unclear why this happens. Subsequent neurologic effects result when angiomas cause pressure on crucial parts of the brain or prevent normal blood flow through the arteries and veins in the brain

Diagnosis

SWS is primarily a clinical diagnosis based on the skin, eye and neurological findings as described above. Various types of x-rays and scans (CT scan, MRI, PET scan) are used to evaluate lesions in the brain. Each scan shows different characteristic findings associated with SWS. There are no laboratory tests available to assist with diagnosis.

Treatment

The seizures associated with SWS can be prolonged and very difficult to treat, even with multiple medications. Some patients eventually undergo epilepsy surgeries; EEG and other tests are used to identify the exact portion of the brain causing the seizures, and that portion is disconnected from the rest of the brain. Many times, this can prevent or minimize the number of seizures. Headaches are usually migraine-like and are treated in a similar manner. Glaucoma usually only occurs when the port wine stain involves the eyelids. Medicated eye drops, and occasionally surgery, are used to reduce the pressure in the eye. Yearly examinations with an ophthalmologist are necessary to follow progression. Port wine stains can be lightened or removed with laser therapy.

Prognosis

SWS-related seizures can sometimes place patients in potentially life-threatening situations; however the disease itself is not fatal. Early seizure onset and seizures uncontrolled with medications are associated with a poorer developmental outcome. In contrast, good seizure control is thought to improve neurological outcome. If not treated, glaucoma eventually leads to permanent damage to the eye nerve and causes blindness.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Sturge-Weber Foundation
This foundation provides detailed information and emotional support for families and individuals affected by SWS. It also provides updates on ongoing research and clinical trials and facilitates future research.

National Institute of Neurological Disorders and Stroke
This site provides a nice summary of SWS as well as links to current research projects seeking enrollees.

Sturge Weber Syndrome Community
A nice website dedicated to facilitating support for those families affected by SWS.

Google Search for Sturge-Weber Syndrome (SWS)

References and Sources

E-medicine Sturge-weber foundation Nelson’s