Neuropediatrics 2006; 37 - THP113
DOI: 10.1055/s-2006-945936

SULTHIAME IS EFFECTIVE FOR TREATMENT OF REFRACTORY EPILEPSY IN RETT SYNDROME

M Martyn 1, C Baise-Zung 1, R Grossman 1, F Kok 1
  • 1Hospital das Clinicas – Sao Paulo University – Brasil, Sao Paulo, SP, Brazil

Objectives: Rett syndrome (RS) is a severe encephalopathy usually caused by an acquired dominant mutation in MECP2 gene. Clinical phenotype includes profound mental retardation, stereotyped hand movements, acquired microcephaly and ataxic/apraxic gait. Epilepsy, sometimes refractory to treatment, is seen in up to 90% of patients. Sulthiame (STM), an antiepileptic drug (AED), with a weak inhibitory effect on carbonic anhydrase, is very effective in the treatment of rolandic epilepsy (RE). As there are some similarities between EEG abnormalities seen in RS and RE, including activation during sleep, we decided to use STM in a series of 4 RS girls with refractory epilepsy. This experience is reported in this study.

Methods: Case series, with clinical and EEG description of 4 consecutive RS cases with refractory epilepsy treated with STM for up to 4 years.

Results: We report on 4 girls, aged 7 to 15 years, with stage IV typical RS. Epilepsy onset varied from 2 to 6 years of age. Reported seizures included generalized tonicclonic, myoclonic and partial complex. EEGs always disclosed multifocal discharges with marked bilateral centroparietal and median emphasis. Valproic acid, carbamazepine, clobazam, topiramate, lamotrigine, phenytoin and nitrazepam were ineffective for seizure control. Before STM introduction (7mg/kg/day, bid), all patients had active epilepsy for more than 4 years and daily seizure frequency varying from 8 to 40. In two girls, complete seizure control was obtained and STM is now kept as monotherapy. In two other patients, seizure reduction was above 90%, and associated AED are being discontinued. Follow-up EEGs, after at least one month of treatment, did not showed any improvement.

Conclusion: In this small casuistic of 4 girls with RS and refractory epilepsy, complete seizure control occurred in two and more than 90% improvement in other two. STM might be considered a therapeutic alternative for RS patients with refractory epilepsy.