ABSTRACT
OBJETIVO: Describir clínica y diagnóstico de 152 pacientes pediátricos asistentes al policlínico del Programa de Enfermedades Neuromusculares (ENM) en un centro terciario de la Región Metropolitana, Chile. METODOLOGÍA: Revisión de fichas programa EMN (2012-2016). RESULTADOS: 49% niñas, mediana de edad: 9 años (rango, 018), consultan por alteraciones de la marcha, debilidad e hipotonía. Segmentos más afectados son músculo y nervio periférico (92%). Diagnósticos más frecuentes son neuropatías adquiridas (26,1%), distrofias musculares (14,8%) y trastornos miotónicos (12,7%). Comorbilidades más frecuentes son patología traumatológica (23,2%) y discapacidad intelectual (13,4%). Los pacientes con patología hereditaria tienen mayor chance de requerir ventilación mecánica (OR 15,4; IC 95% 1,9119,2) y presentar morbilidad traumatológica (OR 4,1; IC 1,0316,4) que los con patología adquiridas. Confirmación genético-molecular en 38,4% de los pacientes con patología hereditaria. CONCLUSIONES: El conocimiento de características clínicas y posibilidades de estudio de las ENM puede mejorar las estrategias de atención.
INTRODUCTION: Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. OBJECTIVES: To clinically and epidemiologically characterize the pediatric population attending a polyclinic run using the NMS program of a hospital in the Metropolitan Region in Chile. Methodology: A review was made of database and clinical records of patients diagnosed with NMS between January 2012 and December 2016. RESULTS: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, decreased strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%) and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having a traumatological disease (OR 4.1 [CI 1.03-16.4]) compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through molecular genetic testing. CONCLUSIONS: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Keywords: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/epidemiology , Wounds and Injuries/epidemiology , Comorbidity , Chile , Epidemiology, Descriptive , Cross-Sectional Studies , Hospitals, Public/statistics & numerical data , Intellectual Disability/epidemiologyABSTRACT
Las Enfermedades Neuromusculares (ENM) representan un grupo heterogéneo de patologías adquiridas y hereditarias que afectan la unidad motora. Existen escasos estudios descriptivos en Chile y Latinoamérica de pacientes con ENM. Objetivo: Caracterizar clínica y epidemiológicamente a población pediátrica asistente a policlínico del Programa de ENM en periodo de 3 años en hospital de Región Metropolitana. Pacientes y Método: Revisión de base de datos y fichas clínicas de pacientes con diagnóstico de ENM entre enero 2012 y diciembre 2016. Resultados: 142 pacientes, 51% sexo masculino, mediana de edad 9 años (0-18). Motivos de consulta frecuentes fueron alteración de la marcha, falta de fuerza e hipotonía. Los segmentos más afectados fueron músculo y nervio periférico (92% de la muestra). Los diagnósticos más frecuentes fueron Neuropatías Adquiridas (26,1%), Distrofias Musculares (14,8%) y Trastornos Miotónicos (12,7%). Las comorbilidades más frecuentes fueron las patologías traumatológicas (23,2%) y discapacidad intelectual (13.4%). Los pacientes con patología hereditaria presentaron mayor riesgo de requerimiento de ventilación mecánica (OR 15,4 [IC 95% 1.9-119.2]) y comorbilidad traumatológica (OR 4,1[IC 1.0316.4]) que los con patología adquiridas. 38,4 % de los pacientes con etiología hereditaria tuvieron confirmación genético-molecular. Conclusiones: Este estudio da información de la frecuencia de las distintas ENM y sus principales comorbilidades en una muestra pediátrica chilena. Aporta datos referentes a las posibilidades de estudio disponible en nuestro país y podría ser de ayuda en la planificación de la atención de estos pacientes. Palabras claves: enfermedad neuromuscular, enfermedad muscular, neuropatías, diagnóstico neurológico.
Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. Objective: To clinically and epidemiologically characterize the pediatric population attending a NMS polyclinic of a hospital in the Metropolitan region. Methodology: A database and clinical record review of patients diagnosed with NMS between January 2012 and December 2016 was performed. Results: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, lack of strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%), and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having traumatological disease (OR 4.1 [CI 1.03-16.4]), compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through a molecular genetic test. Conclusions: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Palabras claves: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.
ABSTRACT
Los eventos paroxísticos no epilépticos (EPNE) son una causa frecuente de consulta en pediatría. Constituyen un grupo de movimientos o conductas abruptas, recurrentes y estereotipadas que comprometen la función cerebral con recuperación espontánea a la normalidad. Se revisan las principales maneras de reconocerlos y diagnosticarlos. Palabras Claves: eventos paroxísticos, movimientos anormales, distonía, temblores.
Non-epileptic paroxysmal events (EPNE) are a frequent cause of consultation in Pediatrics. They are a group of abrupt, recurrent and stereotyped movements or behaviors that compromise brain function, with spontaneous recovery. We review the main ways to recognize and diagnose them. Key words: dystonia, paroxysmal events, abnormal movements, jitteriness.