Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome

Summary Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT. This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV. Eight female patients, aged 7.5–19 years (M12.8 ± 5) entered the study. Mean age at epilepsy onset was 25.8 ± 14.1 months. All patients showed MeCP2 mutation. Patients had been treated with a mean of 3.4 AEDs (2–7) before LEV. The mean LEV dose was 44.84 ± 18.02 mg/kg/day. The mean monthly seizure frequency for all types of seizures during the baseline period was 21.3 ± 8.1 (range 10–35); after 3 months it was 3.3 ± 4.1 (range 0–9) and after 6 months of LEV treatment it was 1.5 ± 2 (range 0–4), p < 0.0001. The mean follow-up period was 20.2 ± 13 months. Mild sleepiness occurred in two patients, one reported intermittent agitation. Levetiracetam appeared effective in our series of drug-resistant RTT patients. All reported a reduction in seizure frequency and consequently a better quality of life.