Abstracts

Rationale: The syndrome of malignant migrating partial seizures of infancy (MMPEI) (Coppola et al, 2009), is characterized by early onset of multiple seizures types emanating from different brain location across time, highly pharmaco-resistant seizures, and overall poor prognosis. The aim of this study was to describe our experience with rufinamide (RUF), a new anticonvulsant FDA-approved for add-on therapy in Lennox-Gastaut syndrome, in the treatment of MMPEI. Methods: We undertook a retrospective analysis of charts of 5 infants with MMPEI who were treated with RUF. Records were analyzed for seizure types and frequency, EEG features, anticonvulsants used, and follow-up. Results: Two of the 5 cases (case #1 and 2) had a dramatic response to RUF with a >50% reduction in seizure frequency. Case #1. A 26 month-old boy developed seizures since age 2 weeks. Semiology included clonic and/or tonic jerks of one limb, twitches of the eyelids, and chewing movements, along with desaturations and short apneas. Multiple EEGs showed electro-clinical seizures from the right and left fronto-central and temporal areas, and inter-ictal right temporo-occipital discharges. Seizures occurred in 1-5 clusters about 1-2 times per week. RUF was added to levetiracetam and topiramate, escalated to a maximal dose of 600mg/day (60 mg/kg/day). After 4 months, there were rare brief seizures reported (1/month) without desaturations and apneas, with no side effects on RUF. Topiramate was successfully tapered with 3 months of subsequent follow-up. Case #2. A 25 month-old girl had seizures since age 2 months. Semiology included tonic movements with eye deviation to one side and apneas with desaturation. EEGs showed electro-clinical seizures from the right frontotemporal areas, and left temporoccipital areas. Seizure frequency was about 7-10 seizures per week. RUF was added to levetiracetam and lamotrigine, with a maximal dose of 800mg/day (75 mg/kg/day). After 6 months, seizure frequency was reduced to 2-3 brief seizures per week, with no apneas and desaturations and no side effects. In the third case (case #3, a 30 month-old boy) RUF was discontinued because of side effects (vomiting). In the other 2 cases (case #4 and #5, 30-month and 36 month-old boys), RUF did not provide benefit at doses >50 mg/kg/day. Conclusions: These results showed good efficacy and tolerability of RUF in 2 of 5 cases with MMPEI. Although limited, these results provide hope for a novel therapeutic option in MMPEI. Additional experience will elucidate the validity of this new drug for therapy in this otherwise devastating syndrome.