Síndrome de Dravet, un reto diagnóstico: Reporte de caso

Abstract

Dravet syndrome is a severe epileptic encephalopathy of very low incidence (1 pe 20,000-40,000), it is classified as rare and of little medical knowledge and suspicion, which makes its diagnosis difficult. It is an alteration in the SCN1A gene, the main encoder of the alpha 1 subunit of the sodium channel. Case presentation: 6-month-old female patient, born by cesarean section, normal pregnancy course, without complications, mother with a history of a previous abortion, no significant family history and motor development according to age. She went to the emergency room for presenting an unquantified thermal rise and seizure, which occurred after the third dose of pentavalent vaccine corresponding to her age, this not being a triggering factor for the seizure. Having very frequent episodes and not obtaining an adequate control, several diagnostic tests are performed including genetic studies of WES to reach a treatment according to a specific diagnosis, for this reason the parents of the minor decide to go to countries of technology to perform this type of diagnosis. The relevance of the case lies in demonstrating that Dravet syndrome is an underdiagnosed and inadequately treated disease, however, currently the use of tools, especially genetic methods and early control prevents patients from presenting several repeated episodes and improves their quality of life.