RESUMO
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients with non-dystrophic myotonias for associated variants and clinical characteristics. SCN4A variants were observed in 28 (93%) of patients, including 25 (83%) with myotonia permanens due to the Gly1306Glu variant. Myotonia permanens was inherited in 24 (96%) patients; the mean age of onset was 6 months, and the initial symptoms were orbicularis oculi myotonia in 17 (74%) patients and larynx myotonia in 12 (52%) patients. The extraocular muscles were involved in 11 (44%) patients, upper limbs in 20 (80%), and lower limbs in 21 (84%). Thirteen (52%) patients experienced recurrent pain and 10 (40%) patients reported limitations in daily life activities. Carbamazepine reduced myotonia in eight treated patients. The high frequency of the Gly1306Glu variant in SCN4A in Chilean patients suggests a founder effect and expands its phenotypic spectrum.
Assuntos
Miotonia/genética , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Adolescente , Adulto , Criança , Chile , Estudos de Coortes , Feminino , Efeito Fundador , Humanos , Lactente , Masculino , Mutação , Transtornos Miotônicos/genética , Adulto JovemRESUMO
Introducción: La epilepsia afecta la calidad de vida, tanto por la frecuencia de crisis como por factores relacionados a la atención, tratamiento, complicaciones, etc. Existen escalas para evaluación de este parámetro, como Encuesta de Calidad de Vida del niño con Epilepsia (CAVE). Objetivos: Evaluar calidad de vida en niños con Epilepsia Refractaria (ER), controlados en policlínico especializado. Determinar si atención en este policlínico mejora significativamente calidad de vida. Métodos: Se reclutaron pacientes de 0 a 18 años con ER, controlados en policlínico especializado, se aplicó encuesta CAVE en 2 oportunidades. Resultados: De los 35 pacientes, en la primera evaluación, 27 asistían al colegio, 20 presentaban autonomía catalogada como muy mala o mala, 20 evaluaban percepción de frecuencia de crisis como muy mala y mala, contrastando con opinión general de calidad de vida, donde 22 puntuaron en buena o muy buena. Al seguimiento, 2 iniciaron asistencia escolar, con mejoría significativa en percepción de intensidad de crisis, sin diferencias en otros ítems. Discusión: Se evaluó impacto de una intervención (policlínico especializado) en calidad de vida en ER mostrando una mejoría estadísticamente significativa solo en el parámetro percepción de intensidad de crisis, siendo necesario seguimiento a más largo plazo.
Introduction: Epilepsy affects the quality of life, both in seizure frequency as factors related to care, treatment, complications, etc. There are scales to evaluate this parameter, like Quality of Life in Children with Epilepsy (CAVE). Objectives: To evaluate quality of Life in children with Refractory Epilepsy (RE), controlled in a specialized polyclinic. To determine whether this specialized polyclinic care significantly improves quality of life. Patients and Methods: Patients were recruited from 0 to 18 years, with ER and in control in specialized polyclinic. They were surveyed with CAVE on 2 occasions in an 11 month period. Results: Of the 35 patients in the first evaluation, 27 were attending to school, 20 had self-classified as poor or very poor, 20 assessed perceived frequency of seizures as very bad and poor, in contrast to general opinion of quality of life, where 22 rated in good or very good. Monitoring, 2 began scholar assistance, with significant improvement in perceived intensity of crisis, no differences in other items. Discussion: We evaluate the impact of an intervention (specialized polyclinic) on Quality of Life in RE with a significantly improvement in intensity of crisis perception. It is necessary a long termfollow-up.
Assuntos
Humanos , Masculino , Adolescente , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Qualidade de Vida , Epilepsia/psicologia , Hospitais Pediátricos , Autonomia Pessoal , Estudos Prospectivos , Seguimentos , Coleta de DadosRESUMO
En la mayoría de los niños con macrocefalia no se encuentra una causagrave, sin embargo, deben considerarse en el diagnóstico etiológico cuadros tratables y/o progresivos como una hidrocefalia. Un análisis cuidadoso y ordenado de los datos obtenidos en anamnesis y examen físico/neurológico, y una adecuada valoración del desarrollo psicomotor permitirán definir las probables causas de la macrocefalia y exámenes complementarios, evitando realizar procedimientos innecesarios.
Although most children with macrocephaly do not have a serious cause, treatable or progressive disorders as hydrocephalus must be considered in the diagnostic workup. A careful and orderly analysis of data obtained from anamnesis and physical / neurological examination, and a proper assessment of psychomotor development will allow the definition of likely causes of macrocephaly and examinations to accomplish, avoiding performing unnecessary procedures.
