Management of Sturge-Weber Syndrome
The management of Sturge-Weber syndrome requires a multidisciplinary approach involving neurologists, ophthalmologists, and dermatologists, with treatment focused on controlling seizures, managing glaucoma, and addressing port-wine birthmarks to improve morbidity, mortality, and quality of life.
Clinical Presentation and Diagnosis
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by:
- Facial port-wine birthmark (PWB)
- Leptomeningeal angiomatosis
- Neurological manifestations (seizures, stroke-like episodes)
- Ocular involvement (glaucoma, choroidal hemangioma)
The condition is caused by a postzygotic, somatic, gain-of-function variant of the GNAQ gene, and more recently, the GNA11 gene 1.
Neurological Management
Seizure Management
- First-line treatment: Anticonvulsants for patients with brain involvement presenting with seizures or abnormal EEG 1, 2
- Drug-resistant epilepsy: Consider multiple drug therapy as 31% of patients require more than 3 drugs for seizure control 3
- Surgical option: Hemispherectomy may be considered for medication-resistant seizures with unilateral brain involvement 3
Neuroimaging
- Initial evaluation: Children with high-risk facial port-wine birthmark should be referred to a pediatric neurologist for baseline evaluation 2
- Routine screening: Not recommended in newborns and infants with high-risk PWB without seizures or neurological symptoms 2
- Follow-up imaging: Not recommended in children with SWS and stable neurocognitive symptoms 2
- MRI findings: Choroid plexus thickness measurements have high sensitivity and specificity for early and incipient changes in SWS 1
Ophthalmological Management
Glaucoma Management
- Screening: Periodic ophthalmological examination every 3 months during the first year and yearly afterward 1
- Treatment approach: Medical treatment or surgery depending on age and clinical presentation 2
- Early-onset glaucoma: Primary angle surgery has modest success rates but lower than in primary congenital glaucoma 4
- Late-onset glaucoma: Filtration surgery has higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage 4
Choroidal Hemangioma Management
- Treatment goal: Induce involution of the hemangioma with reduction of subretinal and intraretinal fluid 4
- Treatment decision factors: Visual acuity, need for glaucoma surgery, presence of subretinal fluid, its chronicity, and potential for visual recovery 4
Dermatological Management
Port-Wine Birthmark
- Treatment: Laser surgery for port-wine birthmark 1
- Timing: Early intervention may improve cosmetic outcomes
Systemic Management
Emerging Therapies
- Sirolimus: Appears safe and potentially effective for cutaneous and extra-cutaneous features, though controlled clinical studies are lacking 1
Multidisciplinary Care
Referral Recommendations
- High-risk PWB: Refer to pediatric neurologist and pediatric ophthalmologist for baseline evaluation and periodic follow-up 2
- Established SWS: Coordinated care between neurology, ophthalmology, and dermatology
Long-term Monitoring
- Neurological: Monitor for seizure control, stroke-like episodes, and developmental progress
- Ophthalmological: Regular monitoring for glaucoma progression and choroidal hemangioma complications
- Developmental: Assessment for psychomotor and mental retardation, which occurs in 46% of patients 3
Complications and Prognosis
- Neurological complications: Hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%) 3
- Cognitive impact: Psychomotor retardation (46%), mental retardation (46%) 3
- Visual outcome: Poor due to glaucoma, cataract, iris neovascularization, exudative retinal detachment, and optic nerve atrophy 5
Prevention of Complications
- Aspirin therapy: Used in 54% of patients to prevent stroke-like episodes 3
- Early intervention: May improve outcomes for seizure control and visual preservation
By implementing this comprehensive management approach, clinicians can help improve quality of life and reduce morbidity in patients with Sturge-Weber syndrome.