What is Sturge Weber Syndrome?

Sturge-Weber syndrome (SWS) is a vascular condition where a child is born with a port-wine birth mark and is found to also have abnormal blood vessels in their brain and in their eye. These abnormal blood vessels cause problems for that child, such as seizures, strokes, weakness and vision loss, and a range of intellectual challenges. 

They can have other medical issues such as endocrine problems, and psychological, mood or behavioral difficulties.  The presence of a port-wine birthmark involving the forehead or upper eyelid raises the suspicion of SWS. These children must be followed very carefully and cared for by experts in order to diagnose brain and eye involvement and treat complications as they arise. A port-wine birthmark can be confused with the stork-bite (also called angel’s kiss) birthmark or with a capillary hemangioma. A dermatologist should examine the birthmark to confirm the diagnosis.

Is there a treatment for Sturge Weber Syndrome?

We now know what causes the port wine birthmark in Sturge-Weber Syndrome. Please click here to learn more about this discovery recently made here at the Kennedy Krieger Institute. Treatments are available for many of the complications of Sturge Weber. Now that the cause of Sturge-Weber syndrome has been discovered here, ongoing efforts are aimed at developing new targeted treatments which we hope will improve the outlook for our patients.

Recent clinical trials have been geared at developing new treatment strategies.  A pilot clinical trial studying the use of cannabidiol for refractory seizures in Sturge-Weber was published and suggests that this treatment may be safe and effective and should be further studied.  A clinical trial evaluating the use of oral sirolimus for cognitive impairments in SWS was published and suggests that sirolimus may be effective treatment method. We have also been making new inroads into the area of presymptomatic treatment. Many infants are now diagnosed prior to the onset of seizures and it is crucial that studies be done to determine the best way to prevent brain injury in these patients and optimize their outcome.

Standard treatment is symptomatic and includes the following: laser treatment for the port-wine birthmark, eye drops or surgery for the glaucoma, anticonvulsant medications for seizures, migraine preventative or abortive medications, and in a minority of patients, surgical resection of involved brain tissue.  Treatment aimed at preventing the symptoms of brain and eye involvement in SWS are currently being investigated at the Hunter Nelson Sturge-Weber Center. Hope for new, future treatments specifically developed for Sturge-Weber syndrome and port-wine stains are now on the horizon with the recent discovery of the gene for SWS and for port-wine birthmarks. For more information, please click this link.

What is the prognosis of Sturge Weber Syndrome?

Infants are born with the port-wine birthmark. Seizures, early handedness or evidence of a visual gaze preference usually begin in the first two years of life; quantitative EEG followed by MRI imaging of the brain can make diagnosis of brain involvement prior to the onset of symptoms. Seizures and strokes can occasionally start in later childhood or even in adulthood. Glaucoma has two peak periods: the first in infancy and the second in young adulthood. However, glaucoma can begin at any time and patients should be seen by an ophthalmologist every few months for the first few years and then at least annually for life.

The prognosis of SWS is extremely variable. Bilateral brain involvement and the early onset (less than 1 year of age) of hard to control seizures predict for worse outcome. Some individuals are severely impaired in terms of their intelligence, mobility, vision, and seizures. However, some are more mildly affected with well-controlled seizures, intact vision, mild motor impairment, and normal intelligence with perhaps attention problems or milder learning disabilities. It is uncommon, but individuals have passed away due to complications of SWS.