Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intoleran...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-12-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-020-02010-w |
| _version_ | 1818330095548366848 |
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| author | Yiming Zheng Yawen Zhao Wei Zhang Zhaoxia Wang Yun Yuan |
| author_facet | Yiming Zheng Yawen Zhao Wei Zhang Zhaoxia Wang Yun Yuan |
| author_sort | Yiming Zheng |
| collection | DOAJ |
| description | Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions MADD should be considered when evaluating elderly patients with subacute muscle weakness. |
| first_indexed | 2024-12-13T12:58:30Z |
| format | Article |
| id | doaj.art-bf7b047f1a234e2a8bccda851b7bf8f1 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-13T12:58:30Z |
| publishDate | 2020-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-bf7b047f1a234e2a8bccda851b7bf8f12022-12-21T23:45:06ZengBMCBMC Neurology1471-23772020-12-012011310.1186/s12883-020-02010-wLate-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case reportYiming Zheng0Yawen Zhao1Wei Zhang2Zhaoxia Wang3Yun Yuan4Neurology Department, Peking University First HospitalNeurology Department, Peking University First HospitalNeurology Department, Peking University First HospitalNeurology Department, Peking University First HospitalNeurology Department, Peking University First HospitalAbstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions MADD should be considered when evaluating elderly patients with subacute muscle weakness.https://doi.org/10.1186/s12883-020-02010-wMADDMyositisLipid storage myopathyCase report |
| spellingShingle | Yiming Zheng Yawen Zhao Wei Zhang Zhaoxia Wang Yun Yuan Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report BMC Neurology MADD Myositis Lipid storage myopathy Case report |
| title | Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report |
| title_full | Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report |
| title_fullStr | Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report |
| title_full_unstemmed | Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report |
| title_short | Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report |
| title_sort | late onset multiple acyl coa dehydrogenase deficiency mimicking myositis in an elderly patient a case report |
| topic | MADD Myositis Lipid storage myopathy Case report |
| url | https://doi.org/10.1186/s12883-020-02010-w |
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