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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MDPI AG
2023-06-01
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| Online Access: | https://www.mdpi.com/1648-9144/59/6/1112 |
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| author | Narjara Castillo-Ferrán Juan Mario Junco-Rodriguez Zurina Lestayo-O’Farrill María de los Angeles Robinson-Agramonte Zoilo Camejo-León Héctor Jesús Gómez-Suárez Mercedes Salinas-Olivares Evelyn Antiguas-Valdez Elizabeth Falcón-Lamazares Dario Siniscalco |
| author_facet | Narjara Castillo-Ferrán Juan Mario Junco-Rodriguez Zurina Lestayo-O’Farrill María de los Angeles Robinson-Agramonte Zoilo Camejo-León Héctor Jesús Gómez-Suárez Mercedes Salinas-Olivares Evelyn Antiguas-Valdez Elizabeth Falcón-Lamazares Dario Siniscalco |
| author_sort | Narjara Castillo-Ferrán |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T02:11:27Z |
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| institution | Directory Open Access Journal |
| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-11T02:11:27Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
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| series | Medicina |
| spelling | doaj.art-87aa6fb08edc4b2d82b481ca98330de32023-11-18T11:31:37ZengMDPI AGMedicina1010-660X1648-91442023-06-01596111210.3390/medicina59061112A Possible Case of Centronuclear Myopathy: A Case ReportNarjara Castillo-Ferrán0Juan Mario Junco-Rodriguez1Zurina Lestayo-O’Farrill2María de los Angeles Robinson-Agramonte3Zoilo Camejo-León4Héctor Jesús Gómez-Suárez5Mercedes Salinas-Olivares6Evelyn Antiguas-Valdez7Elizabeth Falcón-Lamazares8Dario Siniscalco9“Comandante Manuel Fajardo” Teaching Surgical Clinical Hospital, Havana 10400, CubaInstitute of Tropical Medicine “Pedro Kouri”, Havana 11400, CubaInstitute of Neurology and Neurosurgery, Havana 10400, CubaDepartment of Immunochemical, International Center for Neurological Restoration, Habana 11300, CubaInstitute of Neurology and Neurosurgery, Havana 10400, CubaInstitute of Neurology and Neurosurgery, Havana 10400, CubaInstitute of Neurology and Neurosurgery, Havana 10400, Cuba“Angel Arturo Aballí” Hospital, Havana 10400, Cuba“Comandante Manuel Fajardo” Teaching Surgical Clinical Hospital, Havana 10400, CubaDepartment of Experimental Medicine, Division of Molecular Biology, Biotechnology and Histology, University of Campania, 80138 Naples, ItalyCongenital 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.https://www.mdpi.com/1648-9144/59/6/1112muscular atrophymuscle biopsyhypotoniacongenital myopathy |
| spellingShingle | Narjara Castillo-Ferrán Juan Mario Junco-Rodriguez Zurina Lestayo-O’Farrill María de los Angeles Robinson-Agramonte Zoilo Camejo-León Héctor Jesús Gómez-Suárez Mercedes Salinas-Olivares Evelyn Antiguas-Valdez Elizabeth Falcón-Lamazares Dario Siniscalco A Possible Case of Centronuclear Myopathy: A Case Report Medicina muscular atrophy muscle biopsy hypotonia congenital myopathy |
| 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 | muscular atrophy muscle biopsy hypotonia congenital myopathy |
| url | https://www.mdpi.com/1648-9144/59/6/1112 |
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