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Sturge-Weber syndrome: Continued vigilance is needed
Saeed Hassan1, Amir Babiker2, Fahad A Bashiri1
1(1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.
Sudanese Journal of Paediatrics
|August 6, 2016
Summary
Sturge-Weber syndrome (SWS), a congenital disorder from GNAQ gene mutations, presents with neurological and facial symptoms. Early diagnosis and management of complications like glaucoma and seizures are crucial for affected children.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Sturge-Weber syndrome (SWS) is a rare, non-hereditary congenital disorder characterized by vascular malformations.
- It arises from somatic mosaic mutations in the GNAQ gene, affecting the brain, skin, and eyes.
Observation:
- A 12-year-old boy presented with left-sided hemiparesis and a right facial port-wine stain.
- Ocular examination revealed megalocornea and glaucoma, which improved after surgical intervention.
- Neuroradiological imaging confirmed classic SWS brain lesions and a leptomeningeal choroidal angioma.
Findings:
- The patient developed focal-onset seizures responsive to treatment.
- Despite neurological involvement, his cognition remained normal with good academic performance.
- This case highlights the varied clinical manifestations and the importance of multidisciplinary care in SWS.
Implications:
- Early detection and management of SWS complications, such as glaucoma and seizures, are vital.
- This case underscores the need for ongoing monitoring and proactive treatment strategies for SWS patients.
- Further research into GNAQ gene mutations may offer novel therapeutic targets for SWS.
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