Disgenesias del tronco encefálico: pronóstico funcional y tratamiento rehabilitador. Serie de nueve casos / Brainstem dysgenesis: functional prognosis and rehabilitative treatment. A series of nine cases

Introducción. La disgenesia del tronco encefálico es una entidad clínica heterogénea, de baja incidencia y alta variabilidad clínica, que afecta a estructuras del tronco del encéfalo. La combinación de sintomatología, neuroimagen y estudios neurofisiológicos es la base diagnóstica. Objetivo. Conocer las características clínicas comunes, pronóstico funcional y necesidades de tratamiento rehabilitador en un grupo de niños con disgenesia del tronco encefálico. Pacientes y métodos. Estudio retrospectivo observacional de nueve pacientes diagnosticados de disgenesia del tronco encefálico controlados en consultas externas. Resultados. La edad media de los pacientes era de 5,5 años. Cinco presentaron alteraciones en la neuroimagen y, en los cinco con estudio neurofisiológico, éste estaba alterado. Seis presentaron hipotonía muscular; ocho, amimia/hipomimia;seis, hipoacusia central, y cinco, gastrostomía. Un tercio presentó un episodio de parada cardiorrespiratoria. En todos se detectó retraso psicomotor. Actualmente cinco realizan marcha autónoma por interiores y cuatro de ellos por exteriores. Un porcentaje elevado (77,7%) comprende órdenes simples y es capaz de comunicarse (66,6%). Conclusiones. Las alteraciones de los pares craneales, del tono muscular y la disfagia son las manifestaciones más comunesen nuestra población. El riesgo de broncoaspiración y parada cardiorrespiratoria supone una amenaza vital para estos pacientes. Todos los niños presentan retraso psicomotor y la mitad de ellos alcanza marcha autónoma. Dada la diversidadde discapacidad que presentan estos pacientes, consideramos necesario un tratamiento de rehabilitación integral eindividualizado para conseguir un nivel funcional óptimo. Necesitamos estudios con muestras más amplias para obtener grupos homogéneos y establecer el pronóstico funcional y las necesidades de tratamiento rehabilitador (AU)

Introduction. Brainstem dysgenesis is a heterogeneous clinical entity, with low incidence and high clinical variability, which affects structures in the brainstem. Diagnosis is based on the combination of symptoms, neuroimaging and neurophysiological studies. Aim. To determine the common clinical features, functional prognosis and rehabilitative treatment needs in a group of children with brainstem dysgenesis Patients and methods. Observation-based retrospective study of nine patients diagnosed with brainstem dysgenesis monitored in an outpatients department. Results. The mean age of the patients was 5.5 years. Five presented alterations in the neuroimaging scan and, in the five with a neurophysiological study, the results showed it to be altered. Six presented muscular hypotonia, eight had amimia/ hypomimia, six had central hypoacusis and five had gastrostomy. A third of them presented an episode of cardiorespiratory arrest. Delayed psychomotor skills were detected in all cases. Currently five of them are capable of walking autonomously indoors and four of them outdoors. A high percentage of them (77.7%) understand simple orders and are capable of communicating (66.6%). Conclusions. Alterations affecting the cranial nerves and muscle tone together with dysphagia are the most common manifestations in our population. The risk of bronchial aspiration and cardiorespiratory arrest is a threat to the lives of these patients. All the children present psychomotor retardation and half of them manage to accomplish autonomous walking. Given the diversity of the disability displayed by these patients, we believe a personalised, integral rehabilitative treatment is needed to obtain an optimal level of functioning. Further studies with wider samples are required to be able to obtain homogeneous groups and to establish the functional prognosis and needs in terms of rehabilitative treatment (AU)

[Brainstem dysgenesis: functional prognosis and rehabilitative treatment. A series of nine cases]. / Disgenesias del tronco encefalico: pronostico funcional y tratamiento rehabilitador. Serie de nueve casos.

INTRODUCTION: Brainstem dysgenesis is a heterogeneous clinical entity, with low incidence and high clinical variability, which affects structures in the brainstem. Diagnosis is based on the combination of symptoms, neuroimaging and neurophysiological studies. AIM: To determine the common clinical features, functional prognosis and rehabilitative treatment needs in a group of children with brainstem dysgenesis. PATIENTS AND METHODS: Observation-based retrospective study of nine patients diagnosed with brainstem dysgenesis monitored in an outpatients department. RESULTS: The mean age of the patients was 5.5 years. Five presented alterations in the neuroimaging scan and, in the five with a neurophysiological study, the results showed it to be altered. Six presented muscular hypotonia, eight had amimia/hypomimia, six had central hypoacusis and five had gastrostomy. A third of them presented an episode of cardiorespiratory arrest. Delayed psychomotor skills were detected in all cases. Currently five of them are capable of walking autonomously indoors and four of them outdoors. A high percentage of them (77.7%) understand simple orders and are capable of communicating (66.6%). CONCLUSIONS: Alterations affecting the cranial nerves and muscle tone together with dysphagia are the most common manifestations in our population. The risk of bronchial aspiration and cardiorespiratory arrest is a threat to the lives of these patients. All the children present psychomotor retardation and half of them manage to accomplish autonomous walking. Given the diversity of the disability displayed by these patients, we believe a personalised, integral rehabilitative treatment is needed to obtain an optimal level of functioning. Further studies with wider samples are required to be able to obtain homogeneous groups and to establish the functional prognosis and needs in terms of rehabilitative treatment.

TITLE: Disgenesias del tronco encefalico: pronostico funcional y tratamiento rehabilitador. Serie de nueve casos.Introduccion. La disgenesia del tronco encefalico es una entidad clinica heterogenea, de baja incidencia y alta variabilidad clinica, que afecta a estructuras del tronco del encefalo. La combinacion de sintomatologia, neuroimagen y estudios neurofisiologicos es la base diagnostica. Objetivo. Conocer las caracteristicas clinicas comunes, pronostico funcional y necesidades de tratamiento rehabilitador en un grupo de niños con disgenesia del tronco encefalico. Pacientes y metodos. Estudio retrospectivo observacional de nueve pacientes diagnosticados de disgenesia del tronco encefalico controlados en consultas externas. Resultados. La edad media de los pacientes era de 5,5 años. Cinco presentaron alteraciones en la neuroimagen y, en los cinco con estudio neurofisiologico, este estaba alterado. Seis presentaron hipotonia muscular; ocho, amimia/hipomimia; seis, hipoacusia central, y cinco, gastrostomia. Un tercio presento un episodio de parada cardiorrespiratoria. En todos se detecto retraso psicomotor. Actualmente cinco realizan marcha autonoma por interiores y cuatro de ellos por exteriores. Un porcentaje elevado (77,7%) comprende ordenes simples y es capaz de comunicarse (66,6%). Conclusiones. Las alteraciones de los pares craneales, del tono muscular y la disfagia son las manifestaciones mas comunes en nuestra poblacion. El riesgo de broncoaspiracion y parada cardiorrespiratoria supone una amenaza vital para estos pacientes. Todos los niños presentan retraso psicomotor y la mitad de ellos alcanza marcha autonoma. Dada la diversidad de discapacidad que presentan estos pacientes, consideramos necesario un tratamiento de rehabilitacion integral e individualizado para conseguir un nivel funcional optimo. Necesitamos estudios con muestras mas amplias para obtener grupos homogeneos y establecer el pronostico funcional y las necesidades de tratamiento rehabilitador.