Karen Ball, founder of the Surge-Weber Foundation discusses this rare neurovascular disease.
Sturge-Weber syndrome is a rare neurocutaneous disorder that primarily affects the skin and the central nervous system. It is characterized by a facial birthmark called a port-wine stain and neurological abnormalities (e.g., seizures, intellectual disability, developmental delay, hemiparesis). Patients are also at risk for glaucoma, migraines, and behavioral/psychiatric disorders.

The syndrome was named after Drs. William Sturge and Frederick Weber, two clinicians in the late 1800s and early 1900s who described the disease. Dr. Sturge was a neurologist/pathologist and Dr. Weber was a dermatologist/radiologist.

Treatment for this rare condition is largely based on symptoms but there is currently no therapy that targets the pathophysiology of the condition. As noted by Ms. Ball, her daughter underwent laser surgery to lighten or remove the port-wine stain as well as a hemispherectomy for seizure control. Both procedures are fairly common in this patient population but it needs to be stressed that the management of each individual with Sturge-Weber syndrome addresses the specific needs and challenges faced by that patient.

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