Abstracts

Rationale: Epilepsy affects up to 80% of patients with tuberous sclerosis complex (TSC). Early manifestation and drug-resistance of epilepsy comprise key risk factors of mental retardation in future life. Clinical seizures are preceded by the deterioration of EEG recording thus infants with high risk of epilepsy can be identified. In our previous studies1 we reported the beneficial effect of preventative vigabatrin administration on clinical and cognitive outcome. Here we present the results of long-term observation of these patients.Methods: We had an access to clinical data and EEG recordings of 10 out of 14 previously reported1 children with early diagnosis of TSC, who were treated with vigabatrin when active epileptic discharges were seen on EEG, but before the onset of clinical seizures. 8 out of 10 children were treated due to paroxysmal activity on EEG and despite of the treatment 5 of them developed seizures in the first months of life. The treatment was continued until 24-months of life and tapered off. We assessed the effectiveness of preventive treatment approach in long-term observation. Median age at follow-up was 7 years (range 5,75-8,75).Results: At last follow-up one child had drug resistant seizures and required medication. Remaining 9 out of 10 patients (90.0%) were seizure-free. The treatment was gradually tapered off successfully after 24 months of age in all 9 patients. Normal EEG recording was observed in 4 patients. Patient with persistent seizures had generalized abnormalities. In comparison to our previous results obtained at 24 months of age the number of patients with localized discharges increased (5 individuals in comparison to 2 at previous follow-up), but this fact did not result in the increased number of patients with seizures. Median IQ at follow up was 96 (range 71-124).Conclusions: Preventive antiepileptic treatment in infants with tuberous sclerosis complex might improve the long-term prognosis and decrease the risk of persistent, drug-resistant seizures. This study reveals that early administration of antiepileptic treatment results in reduced epilepsy burden also in long-term observation. These preliminary results give rationale for further, large-scale studies assessing the efectivenes of preventive antiepileptic treatment in tuberous sclerosis patients. Aknowledgements : The work reported was partially supported by the 7th Framework Programme of European Commission within the Large-scale Integrating Project EPISTOP (Proposal No: 602391-2; Proposal title: “Long term , prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – tuberous sclerosis complex”). 1 Jóźwiak S, Kotulska K, Domańska-Pakieła D, et al. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol 2011; 15: 424–31.