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Sturge Weber Syndrome

~ Frequently Asked Questions ~

Answers to these questions were provided by Dr Anne Comi,
at the Hunter Nelson Sturge Weber Syndrome Center,
at Kennedy Krieger Institue in Baltimore, MD

 

What is Sturge Weber Syndrome?
 
The diagnosis of Sturge-Weber syndrome (SWS; here defined as the association of a facial port-wine birthmark with either typical eye or brain abnormalities) should be considered whenever a child is born with a port-wine birthmark on the forehead or upper eyelid(s).
 
What are the symptoms of Sturge Weber Syndrome?
 
The eye involvement frequently results in glaucoma (increased pressure in the eye) that can injure the eye, cause eye pain and impair vision. In young infants, glaucoma can result in eye enlargement (buphthalmous).
 
The brain involvement can result in seizures, strokes and stroke-like episodes, weakness on one or both sides of the body, a visual field deficit, mental retardation or learning disabilities, mood and behavior problems, and migraines.

 
What is a Port Wine Stain (PWS)?
 
A port-wine birthmark is a pink or red birthmark that consists of an increased number of abnormal capillary-venous blood vessels in the skin. It can be confused with the stork-bite (also called angel’s kiss) birthmark commonly found in the midline of the forehead and onto the face or with a capillary hemangioma. Therefore a dermatologist should examine the birthmark to confirm the diagnosis.

 
Is there a treatment for Sturge Weber Syndrome?
 
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.

 
What ages are effected by 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 but quantitative EEG followed by MRI imaging of the brain can make diagnosis of brain involvement prior to the onset of symptoms. Neurological symptoms 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 at-risk individuals should be examined by an ophthalmologist every few months for the first few years and then at least annually for life.

 
What is the prognosis of Sturge Weber Syndrome?
 
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 more severe developmental and neurological problems. Some individuals are severely impaired in terms of their intelligence, mobility, vision, and seizures. However, many are much more mildly affected with well-controlled seizures, intact vision, mild motor impairment, and normal intelligence with perhaps attention problems or milder learning disabilities. 

 
Can Sturge Weber Syndrome take a life away?
 
Yes. It is uncommon, but individuals have passed away due to complications of SWS. 

 
What are the different types of Sturge Weber Syndrome?
 
SWS can be considered a spectrum ranging from involvement of only the skin, eye or brain, to the involvement of two of the three sites of involvement, to involving all three: the brain, skin and eye.

 
What research is being done on Sturge Weber Syndrome?
 
Dr. Harry Chugani in Detroit is leading NIH-funded research to study the natural history of SWS through neuroimaging with yearly MRIs, PET scans and neuropsychological testing of young children with SWS. More information on their research can be obtained from the Sturge-Weber Foundation (SWF).
 
Several groups are looking for the cause of SWS by studying skin and brain tissue from individuals with SWS. Tissue donation is essential to current and future research to better understand SWS. The SWF helps to coordinate donations that are banked at the Maryland Brain Bank and distributed to researchers. 
 
The Hunter Nelson Sturge-Weber Center is currently pursuing several clinical research projects on SWS including: 1) Developing quantitative EEG as a new safe tool to improve early detection of SWS brain involvement; 2) Studying the effectiveness of new treatment strategies, including the Atkins diet for seizures, aggressive seizure management and low-dose aspirin in infants and young children with SWS; 3) Evaluating new MRI sequences for the imaging of SWS in older children and adults; 4) Developing a clinical research database to aid future research; 5) Publishing their experience with the behavioral, medical rehabilitation, neuropsychological, and endocrine aspects of SWS in order to guide other clinicians in their care of patients with SWS; 6) Determining the impact of laser skin treatments on the other aspects of SWS.
 
The Hunter Nelson Sturge-Weber Center is currently collaborating with the SWF and investigators at the KKI, Duke, UCLA and Harvard to pursue the following additional clinical research on SWS: 1) Investigating whether SWS is caused by a somatic mutation utilizing the latest in SNP array technology; 2) Creating a registry that will be the foundation for future clinical research in SWS; 3) Investigating factors in the blood and the urine of individuals with SWS that are involved in blood vessel structure and function.
           
The SWF website has a listing of past and current research on SWS and is another place to look for information on ongoing research and protocols seeking participants.

 
Is there an organization that I can connect to in a different state?
 
Both the Sturge-Weber Foundation http://www.sturge-weber.org and the Sturge-Weber Syndrome Community http://swscommunity.org have state chapters and may be able to refer to physicians in that state with expertise in Sturge-Weber syndrome. The Hunter Nelson Sturge-Weber Center http://sturgeweber.kennedykrieger.org is located at the Kennedy Krieger Institute in Baltimore, Maryland.

 
How can I donate my time and/or money to the research of Sturge Weber Syndrome?
 
Individuals or families affected by SWS can donate their time to SWS research by completing surveys and participating in clinical research. Research opportunities for SWS are posted on the following websites: http://www.sturge-weber.orghttp://swscommunity.org and http://sturgeweber.kennedykrieger.org. They can also volunteer their time and talents to the Sturge-Weber Foundation and thereby aid their efforts to promote and coordinate research. Those impacted by SWS are also the best ambassadors to others who may have the resources to financially support SWS research. 
 
Money to support SWS can be donated to Hunter’s Dream for a Cure
to aid their efforts in raising money to support research of Sturge Weber Syndrome.

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