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Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers
Myasthenia gravis (MG) is an autoimmune disease that occurs as a consequence of anti-acetylcholine (Ach) antibodies specifically targeting postsynaptic Ach receptors (AchR). This leads to the evolution of the classic symptoms of the disease, which range from mild symptoms of diplopia, muscle fatigue...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519776/ https://www.ncbi.nlm.nih.gov/pubmed/33005320 http://dx.doi.org/10.1093/jscr/rjaa321 |
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author | Elseidy, Sheref A Alkader, Ahmed Abd Allah Abd Naserallah, Haitham Hassan Awad, Ahmed Khaled |
author_facet | Elseidy, Sheref A Alkader, Ahmed Abd Allah Abd Naserallah, Haitham Hassan Awad, Ahmed Khaled |
author_sort | Elseidy, Sheref A |
collection | PubMed |
description | Myasthenia gravis (MG) is an autoimmune disease that occurs as a consequence of anti-acetylcholine (Ach) antibodies specifically targeting postsynaptic Ach receptors (AchR). This leads to the evolution of the classic symptoms of the disease, which range from mild symptoms of diplopia, muscle fatigue with repetitive movement up to severe affection of the respiratory muscle. The disease can occur as an isolated finding or co-exist with a concomitant thymic tumor or hyperplasia. Careful diagnosis is crucial for the development of the management plan. Nearly 10–15% of MG cases coexist with a thymic pathology and in these cases, surgical resection leads to the resolution of symptoms. Although thymomatous MG occurrence is non-heritable, its polygenic nature accounts for its rare familial variant. In this case, we report a family of three brothers with familial thymomatous MG who underwent thymectomy and improved after thymic surgical resection. Myasthenia gravis can occur as an isolated finding or as an association of thymic pathology. Careful discrimination between the two should be made for the elaboration of a management plan. Familial variant thymomatous myasthenia gravis is exceedingly rare. A familial survey is crucial for its management. |
format | Online Article Text |
id | pubmed-7519776 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-75197762020-09-30 Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers Elseidy, Sheref A Alkader, Ahmed Abd Allah Abd Naserallah, Haitham Hassan Awad, Ahmed Khaled J Surg Case Rep Case Series Myasthenia gravis (MG) is an autoimmune disease that occurs as a consequence of anti-acetylcholine (Ach) antibodies specifically targeting postsynaptic Ach receptors (AchR). This leads to the evolution of the classic symptoms of the disease, which range from mild symptoms of diplopia, muscle fatigue with repetitive movement up to severe affection of the respiratory muscle. The disease can occur as an isolated finding or co-exist with a concomitant thymic tumor or hyperplasia. Careful diagnosis is crucial for the development of the management plan. Nearly 10–15% of MG cases coexist with a thymic pathology and in these cases, surgical resection leads to the resolution of symptoms. Although thymomatous MG occurrence is non-heritable, its polygenic nature accounts for its rare familial variant. In this case, we report a family of three brothers with familial thymomatous MG who underwent thymectomy and improved after thymic surgical resection. Myasthenia gravis can occur as an isolated finding or as an association of thymic pathology. Careful discrimination between the two should be made for the elaboration of a management plan. Familial variant thymomatous myasthenia gravis is exceedingly rare. A familial survey is crucial for its management. Oxford University Press 2020-09-26 /pmc/articles/PMC7519776/ /pubmed/33005320 http://dx.doi.org/10.1093/jscr/rjaa321 Text en Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2020. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Series Elseidy, Sheref A Alkader, Ahmed Abd Allah Abd Naserallah, Haitham Hassan Awad, Ahmed Khaled Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers |
title | Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers |
title_full | Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers |
title_fullStr | Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers |
title_full_unstemmed | Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers |
title_short | Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers |
title_sort | case series: a case of familial thymomatous myasthenia gravis in a family of three male brothers |
topic | Case Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519776/ https://www.ncbi.nlm.nih.gov/pubmed/33005320 http://dx.doi.org/10.1093/jscr/rjaa321 |
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