Effectiveness and Tolerability of Fosphenytoin for Pediatric Status Epilepticus

PURPOSE: The study was aimed to investigate the effectiveness and tolerability of intravenous fosphenytoin (fPHT) in the treatment of pediatric status epilepticus (SE). METHODS: Medical-records of patients who received intravenous (IV) fPHT for the treatment of SE were retrospectively reviewed and their clinical data were analyzed regarding age, gender, seizure types, underlying neurologic status, use of other anticonvulsants, loading dose, response and adverse events of IV fPHT. RESULTS: Twenty patients (12 boys and 8 girls) were included in the study. The mean age at administration of IV fPHT was 3.98 years (range 0-18.6 years). Of the 20 patients, 15 patients had no underlying neurological conditions, but five patients were on anticonvulsants. IV fPHT terminated the seizures in 15 of the 20 patients (75%). No adverse events occurred during or after the infusions. CONCLUSION: This study demonstrated that IV fPHT was as effective as phenytoin and was well-tolerated in the treatment of pediatric SE. IV fPHT can be considered as a substitute for phenytoin in the management of pediatric SE.

A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.

Efficacy and Tolerability of Rufinamide for Intractable Generalized Epilepsies

PURPOSE: The purpose of the study was to evaluate the efficacy and safety of rufinamide for intractable generalized epilepsies. METHODS: Eighteen patients with intractable generalized epilepsies were included in the study. Their medical records were retrospectively reviewed. Rufinamide was administered as an add-on treatment for intractable epilepsies. The initial administered dose was 10 mg/kg/day, which was subsequently titrated up to 30-50 mg/kg/day. The effectiveness was assessed by comparing the frequency of seizures after the treatment. The difference in number of seizures during 4 weeks was compared before and after reaching the final dose. RESULTS: The study population consisted of 13 males and 5 females (mean age 13.6+/-6.2 years, range 3.3-29.2 years). The responder rate (> or =50% in seizure frequency) was 39% and the seizure free rate was 11%. Retention rate was 44% and the reasons for withdrawal was adverse events (6/18 patients, 33%), aggravation of seizures (4/18 patients, 22%), and ineffectiveness (2/18 patients, 11%). Adverse events included hyperactivity, somnolence, ataxia and polyhidrosis. Adverse events and seizure aggravation occurred even at the starting dose of rufinamide treatment. CONCLUSION: Rufinamide can be used as an efficacious and safe adjunctive anticonvulsant for patients with intractable generalized epilepsy.