Un caso di epilessia ad esordio precoce resistente ai farmaci antiepilettici di prima scelta, drammaticamente responsiva al levetiracetam: Significato di un profilo di risposta inusuale ai farmaci antiepilettici

Refractory neonatal and early infantile epilepsy represent a major therapeutical and diagnostic challenge. Conventional antiepileptic drugs sometimes demonstrate limited efficacy and off-label drugs are often considered. When two drugs reveal ineffective, the possibility of a response to a third antiepileptic drug is usually considered low. We report an infant with early onset apparently refractory epilepsy who started to present recurrent tonicclonic seizures (related to spike-wave discharges) at one month of age, without identifiable etiology. We observed a partial and only transient response with phenobarbital (GABA agonist), an aggravation and transformation to tonic seizures associated with low amplitude rapid activity with phenytoin (sodium channel blocker), and finally an immediate, complete and sustained response with levetiracetam (ligand of synaptic vesicular protein SV2A). At one year of age the child, treated only with levetiracetam, was seizure free, showed a slight delay of psychomotor milestones and his EEG was normal. Our case emphasized the importance to consider a therapy with levetiracetam even at early ages, when other options are ineffective. On the basisof a peculiar drug response we speculate a functional origin for our case. Genetic analysis for channelopathies might be considered. It could be interesting to collect all patients with paradoxical or strikingly differentiated response to antiepileptic drugs to study genetic factors determining clinical response to drugs.