Sturge Weber Syndrome is a rare neurological disorder that typically presents at birth. It is characterized by a distinctive facial birthmark known as a port-wine stain, which is caused by an overabundance of blood vessels on the face. This birthmark is often accompanied by abnormalities in the brain, such as abnormal blood vessel development and excessive calcification.
Individuals with Sturge Weber Syndrome may experience a range of symptoms, including seizures, developmental delays, intellectual disabilities, and glaucoma. The severity of these symptoms can vary widely among affected individuals.
The exact cause of Sturge Weber Syndrome is not yet fully understood, but it is believed to be caused by somatic mutations in a gene called GNAQ. These mutations occur randomly and are not inherited from parents.
Treatment for Sturge Weber Syndrome focuses on managing symptoms and may include medications to control seizures, physical therapy to address developmental delays, and surgical interventions to manage glaucoma or other complications. Early intervention and a multidisciplinary approach involving various healthcare professionals can greatly improve the quality of life for individuals with Sturge Weber Syndrome.
by Diseasemaps