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A Possible Case of Centronuclear Myopathy: A Case Report

Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear...

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Autores principales: Castillo-Ferrán, Narjara, Junco-Rodriguez, Juan Mario, Lestayo-O’Farrill, Zurina, Robinson-Agramonte, María de los Angeles, Camejo-León, Zoilo, Gómez-Suárez, Héctor Jesús, Salinas-Olivares, Mercedes, Antiguas-Valdez, Evelyn, Falcón-Lamazares, Elizabeth, Siniscalco, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301121/
https://www.ncbi.nlm.nih.gov/pubmed/37374315
http://dx.doi.org/10.3390/medicina59061112
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author Castillo-Ferrán, Narjara
Junco-Rodriguez, Juan Mario
Lestayo-O’Farrill, Zurina
Robinson-Agramonte, María de los Angeles
Camejo-León, Zoilo
Gómez-Suárez, Héctor Jesús
Salinas-Olivares, Mercedes
Antiguas-Valdez, Evelyn
Falcón-Lamazares, Elizabeth
Siniscalco, Dario
author_facet Castillo-Ferrán, Narjara
Junco-Rodriguez, Juan Mario
Lestayo-O’Farrill, Zurina
Robinson-Agramonte, María de los Angeles
Camejo-León, Zoilo
Gómez-Suárez, Héctor Jesús
Salinas-Olivares, Mercedes
Antiguas-Valdez, Evelyn
Falcón-Lamazares, Elizabeth
Siniscalco, Dario
author_sort Castillo-Ferrán, Narjara
collection PubMed
description Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers. Clinical case: a 22-year-old male patient with symptoms of muscle weakness since early childhood, with difficulty in performing physical activity according to his age, with the presence of a long face, a waddling gait, and a global decrease in muscle mass. Electromyography was performed, showing a neurogenic pattern and not the expected myopathic one, neuroconduction with reduced amplitude of the motor potential of the peroneal nerve and axonal and myelin damage of the posterior tibial nerves. The microscopic study of the studied striated muscle fragments stained with hematoxylin–eosin and Masson’s trichrome showed the presence of fibers with central nuclei, diagnosing CM. The patient meets most of the description for CM, with involvement of all striated muscles, although it is important to note the neurogenic pattern present in this case, due to the denervation of damaged muscle fibers, which contain terminal axonal segments. Neuroconduction shows the involvement of motor nerves, but with normal sensory studies, axonal polyneuropathy is unlikely, due to normal sensory potentials. Different pathological findings have been described depending on the mutated gene in this disease, but all coincide with the presence of fibers with central nuclei for diagnosis by this means, which is so important in institutions where it is not possible to carry out genetic studies, and allowing early specific treatment, according to the stage through which the patient passes.
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spelling pubmed-103011212023-06-29 A Possible Case of Centronuclear Myopathy: A Case Report Castillo-Ferrán, Narjara Junco-Rodriguez, Juan Mario Lestayo-O’Farrill, Zurina Robinson-Agramonte, María de los Angeles Camejo-León, Zoilo Gómez-Suárez, Héctor Jesús Salinas-Olivares, Mercedes Antiguas-Valdez, Evelyn Falcón-Lamazares, Elizabeth Siniscalco, Dario Medicina (Kaunas) Case Report Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers. Clinical case: a 22-year-old male patient with symptoms of muscle weakness since early childhood, with difficulty in performing physical activity according to his age, with the presence of a long face, a waddling gait, and a global decrease in muscle mass. Electromyography was performed, showing a neurogenic pattern and not the expected myopathic one, neuroconduction with reduced amplitude of the motor potential of the peroneal nerve and axonal and myelin damage of the posterior tibial nerves. The microscopic study of the studied striated muscle fragments stained with hematoxylin–eosin and Masson’s trichrome showed the presence of fibers with central nuclei, diagnosing CM. The patient meets most of the description for CM, with involvement of all striated muscles, although it is important to note the neurogenic pattern present in this case, due to the denervation of damaged muscle fibers, which contain terminal axonal segments. Neuroconduction shows the involvement of motor nerves, but with normal sensory studies, axonal polyneuropathy is unlikely, due to normal sensory potentials. Different pathological findings have been described depending on the mutated gene in this disease, but all coincide with the presence of fibers with central nuclei for diagnosis by this means, which is so important in institutions where it is not possible to carry out genetic studies, and allowing early specific treatment, according to the stage through which the patient passes. MDPI 2023-06-08 /pmc/articles/PMC10301121/ /pubmed/37374315 http://dx.doi.org/10.3390/medicina59061112 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Castillo-Ferrán, Narjara
Junco-Rodriguez, Juan Mario
Lestayo-O’Farrill, Zurina
Robinson-Agramonte, María de los Angeles
Camejo-León, Zoilo
Gómez-Suárez, Héctor Jesús
Salinas-Olivares, Mercedes
Antiguas-Valdez, Evelyn
Falcón-Lamazares, Elizabeth
Siniscalco, Dario
A Possible Case of Centronuclear Myopathy: A Case Report
title A Possible Case of Centronuclear Myopathy: A Case Report
title_full A Possible Case of Centronuclear Myopathy: A Case Report
title_fullStr A Possible Case of Centronuclear Myopathy: A Case Report
title_full_unstemmed A Possible Case of Centronuclear Myopathy: A Case Report
title_short A Possible Case of Centronuclear Myopathy: A Case Report
title_sort possible case of centronuclear myopathy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301121/
https://www.ncbi.nlm.nih.gov/pubmed/37374315
http://dx.doi.org/10.3390/medicina59061112
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