RESUMO
TITLE: Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.
Assuntos
Epilepsia Resistente a Medicamentos/genética , Canal de Sódio Disparado por Voltagem NAV1.6/genética , Idade de Início , Substituição de Aminoácidos , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Substituição de Medicamentos , Eletroencefalografia , Heterozigoto , Humanos , Deficiência Intelectual/genética , Isoxazóis/uso terapêutico , Masculino , Mutação de Sentido Incorreto , Fenitoína/uso terapêutico , Mutação Puntual , ZonisamidaRESUMO
El denominado «juego de la asfixia» es una práctica potencialmente mortal entre los adolescentes, que parece estar en auge en los últimos años. Hasta ahora, se han descrito pocos casos en nuestro país. Se lleva a cabo mediante la aplicación de una fuerte presión en el cuello hasta la pérdida de conciencia durante unos segundos, consiguiendo así una breve euforia. Presentamos el caso de un niño de 10 años que fue encontrado inconsciente ahorcado, mientras jugaba en un parque. En ocasiones, el límite entre la euforia y la muerte cerebral es muy pequeño, pudiendo acarrear graves consecuencias. De ahí la importancia de que los padres, los educadores y los profesionales de la salud se familiaricen con los signos del juego, sean capaces de detectarlo precozmente y ayuden a promover medidas eficaces para su prevención (AU)
The so-called «choking game» is a potentially lethal practice among adolescents, which seems to be booming in the last years. Until now, only a few cases have been reported in our country. It consists in applying strong pressure to the neck until achieving a loss of consciousness for a few seconds, looking for a brief feeling of euphoria. The case of a 10-years-old boy who was found unconscious and hanged in a park while playing is presented. Frequently, the line between euphoria and brain death is very narrow, so it could trigger serious health consequences. Therefore, it is important that parents, educators and health professionals are familiar with the signs of the game, are able to recognize it early and help to promote effective measures for prevention (AU)
Assuntos
Humanos , Masculino , Criança , Asfixia/complicações , Comportamento Autodestrutivo/diagnóstico , Hipóxia/complicações , Fatores de Risco , Comportamento do Adolescente , Comportamento InfantilRESUMO
OBJECTIVE: Extracorporal membrane oxygenation (ECMO) is an alternative to cases of respiratory or cardiopulmonary insufficiency when conventional therapy has failed. We present the first 22 patients treated with ECMO at the neonatology unit of the "Gregorio Marañon" Hospital. PATIENTS AND METHODS: From October 1997 until September 1999, 22 patients were treated with ECMO. In 8 of them ECMO was necessary because of respiratory insufficiency without response to conventional treatment (r-ECMO) and a veno-venous tidal flow system was used. In 14 patients, cardiac ECMO was necessary in the veno-arterial modality because of ventricular failure after extracorporal circulatory assistance during cardiovascular surgery. RESULTS: The 8 patients of the respiratory ECMO group had a mean previous oxygenation index of 89 +/- 36.6 (50-150). The mean duration of ECMO was 7.8 +/- 6.5 (1-16) days and the age at the beginning of ECMO ranged between 1 and 151 days. The most frequent indications in this group were congenital diaphragmatic hernia in three cases, meconium aspiration syndrome in 2 cases and 1 case each of septic shock, idiopathic pulmonary hypertension and air leak. The cannula was removed in 5/8 patients due to recovery and 5/8 survived. The 14 patients of the cardiac ECMO group needed veno-arterial ECMO because of severe ventricular failure. Eight out of fourteen were decannulated after improvement. In 5/14 there was multiorgan failure or bad neurological prognosis resulting in death while on ECMO. In 1 out of 14 patients removal of the cannula was impossible because of cardiac insufficiency. The mean age at the beginning of ECMO was 54 (3-178) days. The mean weight at ECMO was 3209 +/- 739 (2700-5000) gr and the mean duration of ECMO was 6 (1-15) days. CONCLUSIONS: ECMO is an effective treatment in rescuing critical patients when conventional treatment fails. Meconium aspiration syndrome is the pathology with the best prognosis on ECMO. Cardiac ECMO represents a complex group of patients in which ECMO is the only treatment and which may result in recovery in 40% of the patients.
