Miopatía congenita de núcleos centrales
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Rev. bol. ped.
Abstract
Las miopatías congénitas son enfermedades hereditarias que generalmente presentan curso benigno. Se caracterizan por su variada presentación fenotípica que dificulta su diagnóstico. Se presenta el caso de un niño de 1 año y 2 meses de edad, que ingresa al hospital con dificultad respiratoria progresiva, hipotonía y evidente retraso del desarrollo psicomotor, cuadro clínico compatible con miopatía de núcleos centrales. El diagnóstico precoz de esta patología es de gran utilidad, para mejorar la calidad de vida del paciente como así también brindar adecuado asesoramiento genético a los padres. El objetivo de esta descripción es dar pautas que faciliten la sospecha diagnóstica.
Congenital myopathies are inherited diseases, usually with a benign course. They present with different phenotypes that renders the diagnosis more difficult. We present the case of a 1 year and 2 months old child, admitted to hospital with progressive shortness of breath, hypotonia and developmental delay, compatible with central core myopathy. Early detection of this condition is very useful in order to improve the patient's quality of life as well as to provide appropriate genetic counseling to parents. We present guidelines that may help with the diagnosis.
Congenital myopathies are inherited diseases, usually with a benign course. They present with different phenotypes that renders the diagnosis more difficult. We present the case of a 1 year and 2 months old child, admitted to hospital with progressive shortness of breath, hypotonia and developmental delay, compatible with central core myopathy. Early detection of this condition is very useful in order to improve the patient's quality of life as well as to provide appropriate genetic counseling to parents. We present guidelines that may help with the diagnosis.
Description
Vol. 47, No. 3