Sturge Weber Syndrome is a rare neurocutaneous disorder characterized by a distinctive facial birthmark, neurological abnormalities, and eye abnormalities. It is estimated to occur in approximately 1 in 20,000 to 50,000 live births.
The hallmark of this syndrome is a port-wine stain birthmark on the face, typically affecting one side of the face. This birthmark is caused by an overabundance of capillaries in the skin and can vary in size and color intensity.
Individuals with Sturge Weber Syndrome may also experience neurological symptoms such as seizures, developmental delays, intellectual disability, and stroke-like episodes. Eye abnormalities, including glaucoma and vision loss, are also common.
While the exact cause of Sturge Weber Syndrome is unknown, it is believed to result from somatic mutations in the GNAQ gene. These mutations occur randomly and are not inherited from parents.
Early diagnosis and intervention are crucial for managing the symptoms and improving the quality of life for individuals with Sturge Weber Syndrome. Treatment options may include medications to control seizures, laser therapy for the birthmark, and surgical interventions for glaucoma or other complications.