Affiliation:
1. Department of Neurology Kennedy Krieger Institute Baltimore Maryland USA
2. Department of Neurology Boston Children's Hospital Boston Massachusetts USA
3. Departments of Neurology and Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA
4. Department of Neuropsychology Kennedy Krieger Institute Baltimore Maryland USA
5. Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore Maryland USA
6. Department of Dermatology and Pediatrics Johns Hopkins School of Medicine Baltimore Maryland USA
7. Department of Radiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA
Abstract
AbstractBackgroundNinety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early‐onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high risk of developing epilepsy, such as tuberous sclerosis complex. The electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess the impact of presymptomatic treatment in SWS.MethodsThis two‐center, Institutional Review Board–approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port‐wine birthmark (PWB) extent, family history of seizures, presymptomatic treatment if received, Neuroscore, and antiseizure medications. EEG reports prior to seizure onset were analyzed.ResultsNinety‐two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (five aspirin, 16 aspirin and levetiracetam; nine aspirin and oxcarbazepine, two valproic acid). Presymptomatically treated patients were more likely to be seizure‐free at 2 years (15 of 32, 47% versus 7 of 60, 12%; p < 0.001). A greater percentage of presymptomatically treated patients had bilateral brain involvement (38% treated versus 17% untreated; p = 0.026). Median hemiparesis Neuroscore at 2 years was better in presymptomatically treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG‐identified seizures was associated with seizure onset by 2 years (p = 0.001).ConclusionPresymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long‐term neuropsychological outcome, and prospective EEG analysis, to assess this approach and determine biomarkers for presymptomatic treatment.