Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case
Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming clinical and pathomorphological task. In particular, false diagnosis of polymyositis in patients with dysferlinopathy reaches 25 % of cases.A 40‑...
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ABV-press
2022-12-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/510 |
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| author | S. N. Bardakov A. М. Emelin S. S. Nikitin A. N. Khelkovskaya-Sergeeva I. S. Limaev A. F. Murtazina V. A. Tsargush M. V. Gusev Ya. V. Safronova V. S. Kaimonov A. A. Isaev R. V. Deev |
| author_facet | S. N. Bardakov A. М. Emelin S. S. Nikitin A. N. Khelkovskaya-Sergeeva I. S. Limaev A. F. Murtazina V. A. Tsargush M. V. Gusev Ya. V. Safronova V. S. Kaimonov A. A. Isaev R. V. Deev |
| author_sort | S. N. Bardakov |
| collection | DOAJ |
| description | Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming clinical and pathomorphological task. In particular, false diagnosis of polymyositis in patients with dysferlinopathy reaches 25 % of cases.A 40‑year‑old female patient with a limb‑girdle phenotype of dysferlinopathy, initially diagnosed as polymyositis, is presented. The reasons that led to the erroneous diagnosis were: sporadic case; subacute onset; proximal muscle weakness; myalgia, which stopped on the glucocorticosteroid therapy; high levels of creatine phosphokinase (up to 17 times); the presence of lymphocytic‑macrophage infiltrate in the muscle biopsy and the absence of magnetic resonance imaging data in primary examination of the patient.The refractoriness of clinical and laboratory signs to complex immunosuppressive therapy was the reason for revising the muscle biopsy with typing of the inflammatory infiltrate. The predominantly unexpressed perivascular infiltrate was characterized by the predominance of macrophages and, to a lesser extent, CD4+, which indicated the secondary nature of the inflammation in the muscle observed in some hereditary muscular dystrophies. When conducting an immunohistochemical reaction, the absence of the dysferlin protein in the sarcoplasmic membrane was revealed.Whole‑exome sequencing (NGS) revealed a mutation in exon 39 of the DYSF gene (p.Gln1428Ter) in the heterozygous state, which leads to the appearance of a stop codon and premature termination of protein translation. MLPA method registered 3 copies of exons 18, 19, 20, 22, 24 of the DYSF gene.Thus, this clinical example reflects the main methodological errors and possible effects of immunosuppressive therapy in patients with dysferlinopathy. |
| format | Article |
| id | doaj-art-b2e69f02488b40eaa34fb3cd3cd8b162 |
| institution | DOAJ |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2022-12-01 |
| publisher | ABV-press |
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| series | Нервно-мышечные болезни |
| spelling | doaj-art-b2e69f02488b40eaa34fb3cd3cd8b1622025-08-20T03:00:40ZrusABV-pressНервно-мышечные болезни2222-87212413-04432022-12-01124738710.17650/2222-8721-2022-12-4-73-87335Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical caseS. N. Bardakov0A. М. Emelin1S. S. Nikitin2A. N. Khelkovskaya-Sergeeva3I. S. Limaev4A. F. Murtazina5V. A. Tsargush6M. V. Gusev7Ya. V. Safronova8V. S. Kaimonov9A. A. Isaev10R. V. Deev11S.M. Kirov Military Medical Academy, Ministry of Defense of RussiaNorth-Western State Medical University named after I.I. Mechnikov, Ministry of Health of RussiaResearch Centre for Medical GeneticsV.A. Nasonov Research Institute of RheumatologyNorth-Western State Medical University named after I.I. Mechnikov, Ministry of Health of RussiaResearch Centre for Medical GeneticsScientific and Practical Clinical Center for Diagnostics and Telemedicine Technologies of the Moscow Department of HealthGeneticoGeneticoGeneticoGenetico; Human Stem Cell InstituteNorth-Western State Medical University named after I.I. Mechnikov, Ministry of Health of Russia; Human Stem Cell InstituteDifferential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming clinical and pathomorphological task. In particular, false diagnosis of polymyositis in patients with dysferlinopathy reaches 25 % of cases.A 40‑year‑old female patient with a limb‑girdle phenotype of dysferlinopathy, initially diagnosed as polymyositis, is presented. The reasons that led to the erroneous diagnosis were: sporadic case; subacute onset; proximal muscle weakness; myalgia, which stopped on the glucocorticosteroid therapy; high levels of creatine phosphokinase (up to 17 times); the presence of lymphocytic‑macrophage infiltrate in the muscle biopsy and the absence of magnetic resonance imaging data in primary examination of the patient.The refractoriness of clinical and laboratory signs to complex immunosuppressive therapy was the reason for revising the muscle biopsy with typing of the inflammatory infiltrate. The predominantly unexpressed perivascular infiltrate was characterized by the predominance of macrophages and, to a lesser extent, CD4+, which indicated the secondary nature of the inflammation in the muscle observed in some hereditary muscular dystrophies. When conducting an immunohistochemical reaction, the absence of the dysferlin protein in the sarcoplasmic membrane was revealed.Whole‑exome sequencing (NGS) revealed a mutation in exon 39 of the DYSF gene (p.Gln1428Ter) in the heterozygous state, which leads to the appearance of a stop codon and premature termination of protein translation. MLPA method registered 3 copies of exons 18, 19, 20, 22, 24 of the DYSF gene.Thus, this clinical example reflects the main methodological errors and possible effects of immunosuppressive therapy in patients with dysferlinopathy.https://nmb.abvpress.ru/jour/article/view/510dysferlinopathylimb‑girdle muscular dystrophy r2dysf geneinflammatory myopathiespolymyositisimmunosuppression |
| spellingShingle | S. N. Bardakov A. М. Emelin S. S. Nikitin A. N. Khelkovskaya-Sergeeva I. S. Limaev A. F. Murtazina V. A. Tsargush M. V. Gusev Ya. V. Safronova V. S. Kaimonov A. A. Isaev R. V. Deev Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case Нервно-мышечные болезни dysferlinopathy limb‑girdle muscular dystrophy r2 dysf gene inflammatory myopathies polymyositis immunosuppression |
| title | Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case |
| title_full | Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case |
| title_fullStr | Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case |
| title_full_unstemmed | Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case |
| title_short | Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case |
| title_sort | reasons for misdiagnosis of polymyositis in patients with dysferlinopathy a clinical case |
| topic | dysferlinopathy limb‑girdle muscular dystrophy r2 dysf gene inflammatory myopathies polymyositis immunosuppression |
| url | https://nmb.abvpress.ru/jour/article/view/510 |
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