Sturge-Weber Syndrome (SWS) is a rare neurological disorder that affects the development of certain blood vessels in the brain, skin, and eyes. The condition is present at birth and is caused by a genetic mutation that affects the GNAQ gene.
The hallmark feature of SWS is a port-wine stain birthmark on the face, which typically appears on one side of the forehead, face, or neck. The birthmark is caused by an overgrowth of blood vessels in the skin and can vary in size and shape.
The birthmark is caused by an overgrowth of blood vessels in the skin and can vary in size and shape.
In addition to the port-wine stain birthmark, individuals with SWS may also experience:
Seizures: Seizures are the most common neurological symptom associated with SWS and may start in infancy or early childhood.
Glaucoma: Increased pressure in the eye due to abnormal blood vessel growth can lead to glaucoma and vision loss.
Hemiplegia: Weakness or paralysis affecting one side of the body.
Intellectual disability: Individuals with SWS may experience developmental delays and intellectual disability.
Behavioral problems: SWS has been associated with an increased risk of behavioral and psychiatric problems, such as anxiety and depression.
Treatment for SWS typically involves managing symptoms and preventing complications. This may include medications to control seizures, surgery or laser therapy to manage the port-wine stain birthmark, and monitoring and treatment for glaucoma. Physical therapy and other supportive therapies may also be used to help manage symptoms and improve quality of life.
Early diagnosis and treatment of SWS are important to prevent complications and improve outcomes for individuals with the condition. If you or someone you know is experiencing symptoms of SWS, it is important to seek medical attention for proper diagnosis and treatment.