What is Sturge-Weber Syndrome?
Sturge-Weber Syndrome (SWS) is a rare neurological disorder characterized by the presence of a port-wine stain birthmark on the face, typically affecting the forehead and upper eyelid on one side of the face.
This condition is caused by a somatic mutation in the GNAQ gene, which leads to abnormal blood vessel development in the skin and brain.
Side Effects of Sturge-Weber Syndrome
The effects of Sturge-Weber Syndrome can vary widely among individuals, but commonly include:
- Neurological Symptoms: Such as seizures (epilepsy) which may start in infancy or early childhood.
- Eye Complications: Glaucoma and visual impairment may occur due to abnormal blood vessel growth in the eyes.
- Developmental Delays: Some individuals may experience delays in cognitive and physical development.
How is Sturge-Weber Syndrome Diagnosed?
Diagnosis of Sturge-Weber Syndrome typically involves:
- Clinical Evaluation: Doctors will assess the characteristic port-wine stain and neurological symptoms.
- Imaging Studies: MRI or CT scans of the brain are used to detect abnormalities in brain structure and blood flow.
- Genetic Testing: In some cases, genetic testing may be conducted to confirm the presence of the GNAQ mutation.
Potential Treatment of Sturge-Weber Syndrome
Treatment aims to manage symptoms and improve quality of life, and may include:
- Medications: Anticonvulsant medications to control seizures, and medications to manage glaucoma if present.
- Surgery: Laser therapy for the port-wine stain to improve cosmetic appearance, and surgical interventions for severe glaucoma.
- Supportive Therapies: Physical therapy, occupational therapy, and educational support to help manage developmental delays and improve functioning.
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