Enfermedad de Pompe: historia, epidemiología, fisiopatología y manifestaciones clínicas / Pompe's disease: History, epidemiology, pathophysiology and clinical manifestations

Introducción: La enfermedad de Pompe o glucogenosis tipo II pertenece al grupo de las miopatías metabólicas y es producida por la deficiencia parcial o total de la enzima alfa glucosidasa ácida. La ausencia/ déficit de esta enzima genera un almacenamiento de glucógeno en el interior de los lisosomas en diversos tejidos, incluidos el músculo esquelético, el miocardio y las células del músculo liso. Se trata de una enfermedad multisistémica que puede tener un inicio temprano o tardío de los síntomas. Contenidos: En este artículo se describirán los aspectos históricos de la enfermedad, su fisiopatología y sus manifestaciones clínicas, con el énfasis puesto en su inicio temprano o tardío. Conclusiones: Es necesario reconocer la enfermedad de Pompe debido a que esta patología es susceptible de tratamiento.

Introduction: Pompe's disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset. Contents: In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described. Conclusions: It is necessary to recognize Pompe disease because this pathology is treatable.

Diferencias diagnósticas en los trazados de electroencefalografía pre y post operatorios en niños después de cirugía cardíaca en una institución de referencia de Bucaramanga (Colombia) / Diagnostic differences in pre and postoperative electroencephalography tracings in children after cardiac surgery in a reference institution in Bucaramanga (Colombia)

Objetivo: determinar la presencia de cambios en los diagnósticos electroencefalográficos pre y post operatorios de niños de cero a 17 años llevados a cirugía de corazón en una institución de referencia en Colombia entre los meses de agosto a noviembre del año 2017. Materiales y métodos: se tomó electroencefalograma una hora previa al procedimiento quirúrgico cardíaco y otros siete días después procedimiento; se recolectaron datos clínicos asociados a presencia de anormalidades en el electroencefalograma. Los datos fueron sometidos a análisis descriptivo, bivariado y multivariado. Resultados: se encontraron cambios en los trazados electroencefalográficos del preoperatorio al post operatorio de dos maneras. una con deterioro de los trazados de normales a anormales y la otra con empeoramiento del trazado anormal. Conclusiones: los pacientes son intervenido presentan trazados electroencefalográfico alterados. La población llevada a cirugía cardiaca en el centro del estudio es muy diversa lo que ocasiona resultados neurológicos variados e influyen en los cambios en los trazados post operatorios..(Au)

Objective: to determine the presence of changes in the pre and postoperative electroencephalographic diagnoses of children from zero to 18 years of age who underwent heart surgery in a reference institution in Colombia between the months of August to November of 2017. Materials and methods: electroencephalogram was taken one hour prior to the cardiac surgical procedure and another seven days after the procedure, clinical data were collected associated with the presence of abnormalities in the electroencephalogram. The data were subjected to descriptive, bivariate, and multivariate analysis. Results: changes in electroencephalographic traces were found from preoperative to postoperative in two ways, one with deterioration of normal to abnormal traces and the other with worsening of the abnormal tracing. Conclusions: patients are taken to surgery despite having altered paths. The population taken to cardiac surgery at the center of the study is very diverse, which causes varied neurological results and influences changes in post-operative traces..(Au)

Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.

OBJECTIVE: To delineate the epileptic phenotype of LAMA2-related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype. METHODS: Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of LAMA2-related MD were analyzed. RESULTS: Epilepsy occurred in 36% of patients with LAMA2-related MD. Mean age at first seizure was 8 years. The most common presenting seizure type was focal-onset seizures with or without impaired awareness. Visual aura and autonomic signs, including vomiting, were frequently reported. Despite a certain degree of variability, bilateral occipital or temporo-occipital epileptiform abnormalities were by far the most commonly observed. Refractory epilepsy was found in 75% of these patients. Epilepsy in LAMA2-related MD was significantly more prevalent in those patients in whom the cortical malformations were more extensive. In contrast, the occurrence of epilepsy was not found to be associated with the patients' motor ability, the size of their white matter abnormalities, or the amount of residual merosin expressed on muscle. SIGNIFICANCE: The epileptic phenotype of LAMA2-related MD is characterized by focal seizures with prominent visual and autonomic features associated with EEG abnormalities that predominate in the posterior quadrants. A consistent correlation between epileptic phenotype and neuroimaging was identified, suggesting that the extension of the polymicrogyria may serve as a predictor of epilepsy occurrence.