Sturge-Weber Syndrome

Sturge-Weber Syndrome (SWS) is a rare, non-genetic condition resulting from an abnormal development of blood vessels of the skin, eyes and brain. This neurological disorder causes seizures at birth, accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.

Besides the so-called, port-wine stains usually affecting one side of the face, the spectrum of clinical manifestations includes glaucoma of the eye due to increased pressure within the eye, seizures, stroke-like events, migraine headaches and focal neurologic impairments. The condition poses a number of specific heath risks due to its progressive, multi-organ involvement.

Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark.

Most patients develop seizures and progressive neurologic deterioration with hemiparesis, visual impairment and cognitive decline that may start in infancy or childhood. Early diagnosis of brain and eye involvement in infants with a port-wine stain is critical to offering effective treatment and potentially modify the severity of the disorder.

Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.

Epileptic seizures starting in the first year of life are usually the first and most common symptom of brain involvement in patients with Sturge-Weber Syndrome. Early and aggressive treatment of the epilepsy is essential to improving the cognitive outcome, as well as the quality of life, as has been shown in various studies from our and other centers. When medical treatment fails, evaluation for the possibility of epilepsy surgery should be considered early in every patient with Sturge-Weber Syndrome.

The challenges of epilepsy surgery in a patient with Sturge-Weber Syndrome are complex but surmountable in the hands of experienced epilepsy specialists and surgeons working as a team. At the Cleveland Clinic Epilepsy Center, we have established a multi-disciplinary team of dedicated pediatric and adult epilepsy specialists, neurosurgeons, neuropsychologists, neuroradiologists, functional neuroimaging experts, cognitive and behavior experts, health psychologists and bioethicists to administer epilepsy care to SWS patients. The team meets on a weekly basis to discuss the best individualized plan of care for patients with complex epilepsy.

Cleveland Clinic specialty care physicians who treat this disorder include:

• Neil Friedman, MBChB (Neurology)
• Allison Vidimos, MD (Dermatology)
• Elias Traboulsi, MD (Ophthalmology)
• William Bingaman, MD (Epilepsy Surgery) (Dermatology)

Cleveland Clinic's Sturge-Weber Syndrome Program offers:

• A well coordinated team approach by expert physicians in the fields of epilepsy, neurology, ophthalmology, dermatology and developmental medicine who deliver comprehensive, multidisciplinary medical and surgical care.
• A world-class reputation for diagnosing and treating SWS and related conditions, including one of the largest programs in the world for pediatric and adult epilepsy evaluation, epilepsy surgery and other treatment options.
• A focus on families, with specialists who address the needs of adult and pediatric patients of all ages.
• Focused and well coordinated care to help patients access multiple services through one channel without undue delays.

Outside of a focused SWS Program, fragmented care could come from all directions. Managing a complex disorder affecting different organs, follow-up screening, early intervention, treatment, and counseling is challenging for the patient as well as the individual physicians seeing patients in different settings.

Instead, these responsibilities can be delegated to the SWS Program, where a dedicated team of specialized physicians in one tertiary care center share the medical information of a patient through electronic medical records, and provide individualized care through a specialized team approach. With this coordination, the program delivers seamless care to patients and their families.

SWS Program Team

Continuing care from experts who understand SWS and other congenital or familial disorders due to vascular malformations is the key to successfully managing the condition, mitigating its complications, and providing the best life possible to each individual and family with SWS.

Patients referred to Cleveland Clinic SWS Program are in skilled hands with professionals who focus on:

• Dermatology
• Neuropsychiatry
• Counseling
• Ophthalmology
• Social work
• Epilepsy
• Genetics
• Developmental medicine
• Neurosurgery
• ENT

Physicians in the SWS Program are at the leading edge of SWS treatment and are committed to clinical and translational research and education to improve the lives of patients and families with SWS. Many questions about the disorder are still unanswered. What are the causes and are they preventable? How can we prevent seizures, how can we best treat them? When is a good time to do surgery? What are the best medical or surgical approaches to treating the brain, eye, and skin involvement?

Cleveland Clinic SWS Program is committed to finding answers to these questions through research initiatives and collaborations.

Visit the link below to learn more about Sturge-Weber Syndrome.

• Learn more about Sturge-Weber Syndrome.