ESTUDO CLÍNICO, GENÉTICO E FARMACOLÓGICO NA SÍNDROME DE DRAVET: relato de caso

Abstract

Dravet's Syndrome (SDr) is a rare epilepsy of infancy, which presents with epileptic seizures of difficult control, the long-term prognosis is poor, with high rates of sudden death. To describe the clinical and molecular characteristics of RDS and to verify the contribution of CBD / THC to the reduction of epileptic seizures. Participated in this study a child with clinical and molecular diagnosis for RDS was evaluated the types of epileptic seizures, the presence of status epilepticus, age of onset of crises, precipitating factors of epileptic seizures, minimum temperature elevation that favors seizures, frequency of seizures before and after the use of CBD and HCT. Data as genetic study, family history for RDS, electroencephalographic and neurological exams were also collected. The patient does not have a family history for RDS, presented a mutation in the SCN1A gene, used extensive antiepileptic drug regimens with unsatisfactory results revealing that it was a refractory epilepsy treatment. He began treatment with CBD and TCH after the last episode of status epilepticus, with improvement in the number especially of the intensity of seizures. We believe that our study allowed a better characterization of SDr and showed relevant results regarding the use of CBD and THC in the reduction of number and intensity of seizures. However, we emphasize the need for more research in order to more accurately analyze its mechanism of action of CBD and THC in the treatment of SDR e, in a larger population.