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Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature
A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents, and worsened 2 months prior to the current pr...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943314/ https://www.ncbi.nlm.nih.gov/pubmed/35296144 http://dx.doi.org/10.1177/03000605221084873 |
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author | Pan, Xiaoli Yuan, Yuan Wu, Bangcui Zheng, Wendan Tian, Mei |
author_facet | Pan, Xiaoli Yuan, Yuan Wu, Bangcui Zheng, Wendan Tian, Mei |
author_sort | Pan, Xiaoli |
collection | PubMed |
description | A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents, and worsened 2 months prior to the current presentation. A second muscle biopsy suggested metabolic myopathy, and genetic testing revealed a novel c.1074C > T variant in the glycogen synthase 1 gene (GYS1), which is implicated in muscle glycogen storage disease type 0. However, no abnormalities in glycogen deposition were found by biopsy; rather, muscle fibers exhibited large intracellular lipid droplets. Furthermore, muscle strength was greatly restored and circulating levels of creatine kinase indicative of muscle degeneration greatly reduced by vitamin B2 treatment. Therefore, the final diagnosis was lipid storage myopathy. |
format | Online Article Text |
id | pubmed-8943314 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-89433142022-03-25 Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature Pan, Xiaoli Yuan, Yuan Wu, Bangcui Zheng, Wendan Tian, Mei J Int Med Res Case Reports A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents, and worsened 2 months prior to the current presentation. A second muscle biopsy suggested metabolic myopathy, and genetic testing revealed a novel c.1074C > T variant in the glycogen synthase 1 gene (GYS1), which is implicated in muscle glycogen storage disease type 0. However, no abnormalities in glycogen deposition were found by biopsy; rather, muscle fibers exhibited large intracellular lipid droplets. Furthermore, muscle strength was greatly restored and circulating levels of creatine kinase indicative of muscle degeneration greatly reduced by vitamin B2 treatment. Therefore, the final diagnosis was lipid storage myopathy. SAGE Publications 2022-03-17 /pmc/articles/PMC8943314/ /pubmed/35296144 http://dx.doi.org/10.1177/03000605221084873 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Reports Pan, Xiaoli Yuan, Yuan Wu, Bangcui Zheng, Wendan Tian, Mei Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
title | Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
title_full | Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
title_fullStr | Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
title_full_unstemmed | Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
title_short | Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
title_sort | lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943314/ https://www.ncbi.nlm.nih.gov/pubmed/35296144 http://dx.doi.org/10.1177/03000605221084873 |
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