Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation
We report on a 57 year old female patient who presented in acute respiratory failure with severe generalized weakness. She was previously misdiagnosed for over three decades as polymyositis. She was treated with enzyme replacement therapy (ERT) for over five years, after being diagnosed with late on...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426922000568 |
| _version_ | 1798042329376882688 |
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| author | Mandat Maharaj David L. Skidmore Sidney E. Croul David J. Brake Hanns Lochmuller |
| author_facet | Mandat Maharaj David L. Skidmore Sidney E. Croul David J. Brake Hanns Lochmuller |
| author_sort | Mandat Maharaj |
| collection | DOAJ |
| description | We report on a 57 year old female patient who presented in acute respiratory failure with severe generalized weakness. She was previously misdiagnosed for over three decades as polymyositis. She was treated with enzyme replacement therapy (ERT) for over five years, after being diagnosed with late onset Pompe Disease (LOPD). She returned to independent living with the use of non invasive ventilation at nights. ERT should be considered in the management of patients with advanced LOPD and the effects of ERT closely monitored. |
| first_indexed | 2024-04-11T22:34:03Z |
| format | Article |
| id | doaj.art-95dc199ff5cd4fc2856b0b911be0db21 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-11T22:34:03Z |
| publishDate | 2022-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-95dc199ff5cd4fc2856b0b911be0db212022-12-22T03:59:16ZengElsevierMolecular Genetics and Metabolism Reports2214-42692022-09-0132100896Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentationMandat Maharaj0David L. Skidmore1Sidney E. Croul2David J. Brake3Hanns Lochmuller4Cape Breton Regional Hospital, Cape Breton, Nova Scotia, Dalhousie University, Canada; Corresponding author.IWK Hospital, Halifax, Nova Scotia, Dalhousie University, CanadaQueen Elizabeth Hospital, Halifax, Nova Scotia, Dalhousie University, CanadaCape Breton Regional Hospital, Cape Breton, Nova Scotia, Dalhousie University, CanadaThe Ottawa Hospital, Ottawa, Ontario, The University of Ottawa, CanadaWe report on a 57 year old female patient who presented in acute respiratory failure with severe generalized weakness. She was previously misdiagnosed for over three decades as polymyositis. She was treated with enzyme replacement therapy (ERT) for over five years, after being diagnosed with late onset Pompe Disease (LOPD). She returned to independent living with the use of non invasive ventilation at nights. ERT should be considered in the management of patients with advanced LOPD and the effects of ERT closely monitored.http://www.sciencedirect.com/science/article/pii/S2214426922000568Late onset Pompe diseaseMisdiagnosisEnzyme replacement therapyAlglucosidase alfa |
| spellingShingle | Mandat Maharaj David L. Skidmore Sidney E. Croul David J. Brake Hanns Lochmuller Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation Molecular Genetics and Metabolism Reports Late onset Pompe disease Misdiagnosis Enzyme replacement therapy Alglucosidase alfa |
| title | Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation |
| title_full | Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation |
| title_fullStr | Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation |
| title_full_unstemmed | Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation |
| title_short | Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation |
| title_sort | benefit of 5 years of enzyme replacement therapy in advanced late onset pompe a case report of misdiagnosis for three decades with acute respiratory failure at presentation |
| topic | Late onset Pompe disease Misdiagnosis Enzyme replacement therapy Alglucosidase alfa |
| url | http://www.sciencedirect.com/science/article/pii/S2214426922000568 |
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