Descripción clínica de pacientes pediátricos con enfermedades neuromusculares en una muestra de población chilena / Clinical description of pediatric patients with neuromuscular diseases in a Chilean population sample

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.

Descripción clínica de pacientes pediátricos con Enfermedades Neuromusculares en una muestra de población chilena / Neuromuscular Disease: Clinical and Epidemiological Characterization of a Chilean Pediatric Population

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.

Cystic lesion of pectoralis minor muscle: learning from mistakes

Hydatidosis is a frequent infestation in large endemic areas, caused by helminths. Primary localization within the muscle or bone tissues is rare. We report the case of a 52-year-old woman with a cystic lesion located in the right pectoralis minor muscle, who was initially diagnosed with cystic lymphangioma by imaging examination. She was submitted for surgical treatment; in block resection of the tumor along with the involved muscle was performed. The histopathological diagnosis was of hydatid cyst. The contribution of the ancillary lab tests is analyzed for a precise preoperative diagnostic approach. This case well illustrates that the most likely is not always what it appears to be. Facing of a cystic lesion in the lungs, liver or muscle, clinicians should always think on hydatid disease, particularly in endemic areas.

Muscle adverse events among users of simvastatin in primary health care: collaborative drug therapy management / Eventos adversos musculares entre usuários de sinvastatina na atenção primária em saúde: manejo colaborativo de terapia medicamentosa

Collaborative drug therapy management in primary health care involves communication among the physician, pharmacist and user of simvastatin and can result in safer results regarding patient wellbeing. The aim of the study was to investigate muscle adverse events and risk factors related to simvastatin. For patients who developed muscle adverse events, collaborative drug therapy management was performed in an attempt to resolve the symptoms. A non-randomized case study was conducted at the single basic health unit in the city of Peabiru, Parana, Brazil, for a period of one year. Patients were interviewed using a structured form. To confirm muscle adverse events, the patient was referred to a physician and submitted to the suspension and return to treatment. Thyroid-stimulating hormone, creatine kinase and alanine aminotransferase exams were performed. A sample of 148 users of simvastatin was selected. Eleven patients had some type of simvastatinassociated muscle adverse event (myopathy), among whom seven had muscle symptoms (myalgia) and four had elevated creatine kinase, but were asymptomatic (asymptomatic myopathy). Collaborative drug therapy management focused on simvastatin for five patients with myalgia led to improvements in the quality of life of two patients.

O manejo colaborativo de tratamento medicamentoso em atenção primária envolve a comunicação entre o médico, farmacêutico e o usuário de sinvastatina e pode levar a resultados mais seguros, favorecendo o bem-estar do paciente. O objetivo do estudo foi investigar eventos adversos musculares e fatores de risco para tais eventos, relacionados à sinvastatina. Para os pacientes que desenvolveram eventos adversos musculares, o manejo colaborativo foi realizada de forma a resolver os sintomas. Um estudo de caso não randomizado foi realizado na única unidade básica de saúde na cidade de Peabiru, Paraná, Brasil, por um período de um ano. Os pacientes foram entrevistados por meio de um formulário estruturado. Para confirmar os eventos adversos musculares, o paciente era encaminhado ao médico, sendo submetido à suspensão e retorno da sinvastatina. Foram realizadas dosagens do hormônio tireoestimulante, creatina quinase e alanina aminotransferase. Uma amostra de 148 usuários de simvastatina foi selecionada. Do grupo estudado, 11 pacientes tiveram algum tipo de evento adverso muscular (miopatia) associada à sinvastatina, entre os quais sete tiveram sintomas musculares (mialgia) e quatro apresentaram elevação da creatina quinase, mas eram assintomáticos (miopatia assintomática). O manejo colaborativo de terapia medicamentosa focada na sinvastatina para cinco pacientes com mialgia levou a melhoria na qualidade de vida de dois pacientes

Neuromyopathy caused by long term colchicine therapy

Colchicine-induced neuromyopathy is an extremely rare complication, and can develop in the setting of acute overdose or chronic administration in therapeutic doses. A 72-year-old man presented with proximal muscle weakness and myalgia. He had angina pectoris and Behçet’s disease, leading to the treatment of colchicine (1.2 mg daily for about 6 years), cyclosporine, methylprednisolone, simvastatin, and aspirin. A biceps brachii muscle biopsy was performed and electron microscopic examination revealed scattered autophagic vacuoles. He was initially treated with steroid pulse therapy. However, muscle weakness did not improve. After the discontinuation of colchicine, muscle power and myalgia improved steadily. There should be heightened awareness of colchicine-induced neuromyopathy because that clinical suspicion is the most important diagnostic clue, and termination of colchicine is the only treatment.

Muscular Sarcoidosis Detected by F-18 FDG PET/CT in a Hypercalcemic Patient

Sarcoidosis is a systemic granulomatous disease of unknown etiology that involves many organs, occasionally mimicking malignancy. We herein report a 50-yr-old woman of muscular sarcoidosis of chronic myopathic type, manifested by hypercalcemia and muscle wasting. Besides insignificant hilar lymphadenopathy, her sarcoidosis was confined to generalized atrophic muscles and therefore, F-18 FDG PET/CT alone among conventional imaging studies provided diagnostic clues for the non-parathyroid-related hypercalcemia. On follow-up PET/CT during low-dose steroid treatment, FDG uptake in the muscles disappeared whereas that in the hilar lymph nodes remained. PET/CT may be useful in the evaluation of unexpected disease extent and monitoring treatment response in suspected or known sarcoidosis patients.

Pathological and immunopathological changes of skeletal muscle microvessels in dermatomyositis and polymyositis / 中华皮肤科杂志

Objective To assess pathological features of muscles as well as microvascular changes between muscle fibers in patients with dermatomyositis (DM),and to analyze pathological differences in muscles between DM and polymyositis (PM).Methods Specimens were obtained from involved muscles of 16 patients with DM,5 patients with PM,and from normal muscles of 9 patients with bone trauma (controls).Routine histopathological examination and immunohistochemical staining for CD34 and CD61 were conducted.Results Of the 16 patients with DM,6 (37.5％) had perifascicular atrophy,3 ( 18.8 ％) had an obvious inflammatory cell infiltration around microvessels between muscle fibers.Perifascicular atrophy was absent in muscle specimens from patients with PM or bone trauma.The number of CD34-positive microvessels between muscle fibers was reduced in patients with DM,but normal in those with PM.CD61 was positive in perifascicular area of 10 patients (5 moderately positive and 5 weakly positive) with DM,with an expression rate of 62.5％,however,only 1 case of PM was weakly positive for CD61,and all the controls were negative.Conclusions There is a decrease in the number of microvessels but an enhancement of neovascularization between muscle fibers in involved muscles of patients with DM,which may serve as a pathological marker to distinguish DM from PM.