What is Sturge-Weber Syndrome?
Sturge-Weber syndrome (SWS) is a neurological disorder characterized by the abnormal growth of small blood vessels in different parts of the body. The disorder’s most visible feature is a pink or purple birthmark, called a port-wine birthmark, usually on the face and/or forehead. Abnormal blood vessel development also often affects the brain and causes a range of neurological symptoms.
The symptoms of SWS are often present at birth or appearance in infancy. However, in some cases, some symptoms may not emerge until adulthood.
Symptoms of Sturge-Weber Syndrome
The most common symptoms of SWS affect the skin, brain, and eyes. The emergence of symptoms and their severity vary widely from case to case. Some people with the disorder may have all three of the core symptoms, some may have some combination of two symptoms, and some may have only one of the symptoms.
The core symptoms of SWS include:
- Port-wine birthmark. The mark ranges in color from pink to deep purple. It is most often on the face, forehead, and/or eyelid. It typically appears on only one side of the face, but it can extend to both sides in some cases.
- Abnormal development of blood vessels in the brain. The malformation is called leptomeningeal angioma, and it can cause deterioration or hardening of brain tissue. Resulting symptoms can include headaches, seizures, stroke-like blood flow problems, and intellectual impairments.
- Increased pressure of the fluid in the eyes (glaucoma). The problem may affect only one eye, but in some cases, it affects both eyes. The increased pressure can lead to vision impairment or loss. In some cases, the increased pressure can also cause the eyes to bulge noticeably.
Some people with SWS experience only minor symptoms and don’t suffer any intellectual impairments or serious physical complications.
What Causes Sturge-Weber Syndrome?
Sturge-Weber syndrome is caused by an abnormal change (mutation) in a gene called the GNAQ gene. This gene is responsible for producing a protein vital in the development and function of blood vessels. A gene with the disorder-causing mutation interferes with the protein production, causing either decreased levels of the protein or production errors that impair its function. As a result, blood vessels in some parts of the body develop abnormally and grow excessively.
Is Sturge-Weber Syndrome Hereditary?
Sturge-Weber syndrome is not an inherited disorder. The gene mutation that causes it is not passed from parent to child. Instead, the mutation occurs spontaneously in the developing fetus at some point after fertilization. Scientists believe that the mutation may happen in a single cell and then is passed on to other cells that develop from that original cell during fetal development. Because of this process called mosaicism, some cells in the baby’s body have the mutation, and others do not. This variability may explain why symptoms appear in only some parts of the body.
How Is Sturge-Weber Syndrome Detected?
Early diagnosis of SWS is helpful because early intervention and treatment can reduce severe and even life-threatening complications. Doctors may suggest diagnostic testing of babies born with a port-wine birthmark, although most babies with such a birthmark do not have SWS. Other possible early warning signs of SWS include seizures showing a preference for one side of the body during motor activities.
How Is Sturge-Weber Syndrome Diagnosed?
When a doctor suspects SWS because of symptoms a baby is exhibiting, further testing can help confirm the diagnosis. Common diagnostic steps include:
- Magnetic resonance imaging (MRI) or computerized tomography (CT) to look for brain malformations characteristic of SWS
- An ophthalmological exam to look for glaucoma and other eye abnormalities
PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.
How Is Sturge-Weber Syndrome Treated?
Sturge-Weber syndrome has no cure. Standard treatment options focus on improving symptoms and preventing complications.
Common treatments include:
- Laser therapy to lighten or remove the port-wine birthmark
- Anti-convulsant medications to control seizures
- Surgery or vagus nerve stimulation to control seizures
- Medication or surgery to treat glaucoma
- Medications to control other symptoms such as headaches
- Physical therapy
- Special education
How Does Sturge-Weber Syndrome Progress?
Complications of SWS tend to be most severe in cases where abnormal blood vessel development affects the brain. In a small number of cases, the disorder involves both sides of the brain, and these cases have the poorest prognosis.
Seizures are more likely to cause intellectual impairments when they begin before the child is two years old and when the episodes do not respond well to treatment.
Ongoing monitoring to watch for the progression of glaucoma is recommended.
How Is Sturge-Weber Syndrome Prevented?
Currently, there is no known way to prevent Sturge-Weber syndrome. Scientists have not identified any risk factors that seem to increase the risk of the disorder-causing gene mutation. Because the mutation occurs spontaneously, inheritance and family history appear to play no role in the disorder’s development.
Sturge-Weber Syndrome Caregiver Tips
- Learn about Sturge-Weber syndrome. The disorder has a wide range of effects that vary considerably from case to case. Educate yourself about SWS in general, and do everything you can to understand your child’s unique experience with the disorder.
- Focus on the positive, and openly support your child. The outward signs of SWS can make your child feel different and insecure. Be open with friends, family, teachers, and others about the disorder, and help your child embrace what makes them unique.
- Remember that you’re not alone. The Sturge-Weber Foundation offers a collection of resources, including education and links to support groups, to help families living with SWS.
Sturge-Weber Syndrome Brain Science
Ongoing research aims to understand better the underlying causes of SWS and the mechanism of the disorder’s blood-vessel abnormalities. Some of this research has led to therapies and medications that show promise for treating SWS and its complications.
- Low-dose aspirin has helped control seizures and stroke-like episodes in children with SWS in some studies. Studies have not yet shown that aspirin is effective at preventing other complications, such as intellectual impairments.
- A low-carbohydrate ketogenic appears to have reduced seizure activity in some cases. These cases featured frequent seizures that had not responded well to other treatments.
- Initial research has suggested that cannabidiol may be effective at treating some kinds of SWS seizures.
Sturge-Weber Syndrome Research
Title: Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome
Principal Investigator: Anne M. Comi, MD
Kennedy Krieger Institute
The investigators intend to gain an understanding of the utility of pharmaceutical-grade CBD used for the treatment of cognitive impairments in SWS in this open-label study. Anecdotal evidence from a phase I trial investigating the use of CBD for medically refractory seizures suggests CBD may also have a beneficial effect on cognition, mood, and behavior. The investigators hypothesize that CBD/ Epidiolex will improve SWS brain function, resulting in improved cognitive function, social interactions, mood, motor function, behavior, and reduced migraines. This is an open-label prospective oral drug trial of Epidiolex in (10) subjects. Assessments will be done at baseline and repeated after (6) months on the study drug.
Title: Longitudinal Neuroimaging in Sturge-Weber Syndrome
Contact: Csaba Juhasz, MD, PhD
Wayne State University
In this project, the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes without contrast administration (and sedation even in young children), can also be readily applied in other pediatric brain disorders in the future. The investigators will also study how advanced MRI, including susceptibility-weighted and diffusion tensor imaging, can detect detailed signs of brain vascular and neuronal reorganization that helps improve neurological and cognitive outcome of children and young adults with SWS. These candidates could benefit from targeted interventions in the future to minimize neurocognitive deficits in affected patients. All enrolled subjects will undergo advanced brain MRI and neurocognitive evaluation to achieve these goals.
Title: Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
Principal investigator: Andres Alvarez Pinzon, Ph.D., MD, MHA
University of California San Francisco
San Francisco, CA
Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement, resulting in seizures, stroke-like episodes, and neurologic deficits. This study aims to integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.
Aim 1: Develop a longitudinal database of patients with SWS. Clinical sites will collect longitudinal data retrospectively on measures of clinical symptoms and medications/treatments for study subjects who participated in the existing BVMC2/SWF registry and consent to participate in the BVMC3 study. Retrospective data will be used to create a longitudinal dashboard where practitioners can identify predictors of at-risk patients who are most likely to have a serious neurological symptom and the associated current treatments. Prospective data collection: Clinical sites will collect longitudinal data prospectively for at-risk patients who present with a new, severe neurological symptom.
Aim 2: Examine longitudinal Quantitative MRI Baseline. MRI datasets will be collected and Limited Data Sets (LDS) will be generated and uploaded to a central imaging database from all participating centers. Subsequent MRI scans will be collected for patients who experience acute exacerbation of clinical symptoms, including seizures, headaches, or stroke-like episodes. Integrated imaging data, detailed treatment data, and detailed clinical data including neurological symptoms, seizures, and headache history will be analyzed.
Aim 3: Collect and Store Blood Samples for Analysis. All patients enrolled in the BVMC3 study will have blood samples sent to and stored at the University of California San Francisco (UCSF). Enrolled patients presenting with stroke-like episodes, stroke, headache, or seizure will have a second blood sample taken at the time of the neurologic symptom and a third sample taken six months later, or even later if symptoms have not resolved within six months. Multiplex angioma and inflammatory marker array will be assessed on all three samples from patients at the same time.