Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome

Area of Science:

• Neurology
• Pediatrics
• Clinical Data Analysis

Background:

• Sturge-Weber syndrome (SWS) with brain involvement frequently leads to early-onset seizures (before age 2), impacting neurological outcomes.
• Presymptomatic treatment, similar to approaches in tuberous sclerosis complex, may delay seizure onset and improve outcomes in SWS.
• Electroencephalogram (EEG) may serve as a predictive biomarker for seizure onset in SWS.

Purpose of the Study:

• To retrospectively analyze clinical data and assess the impact of presymptomatic treatment on seizure onset and neurological outcomes in infants with SWS.
• To investigate the potential of EEG as a biomarker for predicting seizure development in SWS patients.

Main Methods:

• Retrospective analysis of clinical records from two centers for patients with SWS brain involvement.
• Data collected included demographics, seizure onset, brain and port-wine birthmark (PWB) extent, family history, presymptomatic treatment details, neuroscore, and anti-seizure medications.
• Pre-seizure onset EEG reports were analyzed for specific findings.

Main Results:

• Of 92 patients, 32 received presymptomatic treatment. Treated patients were significantly more likely to be seizure-free at 2 years (47% vs. 12%, p<.001).
• Presymptomatically-treated patients had a higher incidence of bilateral brain involvement (38% vs. 17%, p=.026) and better median hemiparesis neuroscores.
• EEG findings (slowing, epileptiform discharges, or seizures) prior to onset were associated with seizure onset by age 2 (p=.001).

Conclusions:

• Presymptomatic treatment shows promise for children with SWS diagnosed before seizure onset.
• Further research, including prospective trials and long-term outcome studies, is needed to validate this approach.
• Prospective EEG analysis is recommended to identify reliable biomarkers for guiding presymptomatic treatment decisions in SWS.