DISEASE SCANNER
Global Incurable Diseases Tracker
Sturge-Weber Syndrome
A rare congenital neurological and skin disorder characterized by a facial port-wine birthmark, neurological abnormalities including seizures, and eye problems such as glaucoma. Caused by somatic mutation in GNAQ gene. Affects approximately 1 in 20,000-50,000 people.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Clinical examination
- 2MRI of brain (leptomeningeal enhancement)
- 3CT scan (calcifications)
- 4Eye pressure measurement
- 5EEG
- 6Genetic testing (rarely needed)
- 7Neuropsychological testing
Prognosis
Variable. Seizures often refractory. Intellectual disability common. Glaucoma manageable with treatment. Quality of life affected by neurological issues. Life expectancy variable. Early intervention improves outcomes. Lifelong management required. Visual impairment possible.
Prevention
- No prevention possible (somatic mutation)
- Prenatal diagnosis not possible
- Early diagnosis and treatment
- Regular monitoring
- Seizure management
- Glaucoma screening
- Multidisciplinary care
Research Status
Laser therapy for port-wine stain. Antiepileptic drugs for seizures. Low-dose aspirin may help. Glaucoma management. Hemispherectomy in severe cases. Neurological monitoring. Eye exams essential. Multidisciplinary care. Research into topical timolol and sirolimus for skin.
Affected Countries
Sources
- https://www.mayoclinic.org/diseases-conditions/sturge-weber-syndrome
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.