Karen Ball, founder of the Surge-Weber Foundation discusses Sturge-Weber Syndrome, a 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 port-wine stain birthmark on the face and neurological abnormalities such as seizures, intellectual disability, developmental delay, and hemiparesis. Patients are also at risk for glaucoma, migraines, and behavioral/psychiatric disorders.
Doctors William Sturge and Frederick Weber described the disease, thus naming it. Dr. Sturge was a neurologist/pathologist and Dr. Weber was a dermatologist/radiologist in the late 1800s and early 1900s.
Treatment 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. She also went through a hemispherectomy for seizure control. Both procedures are fairly common in this patient population, but it is important to stress that the management of each individual with Sturge-Weber syndrome focuses on addressing the specific needs and challenges faced by the patient.
To stay up-to-date on this and other rare neurologic disorders, visit checkrare.com/diseases/neurology-nervous-system-diseases/