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Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure

Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe gene...

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Autores principales: O'Callaghan, Cara, Henderson, Robert, Masel, Philip, Tay, George, Tsang, Benjamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256953/
https://www.ncbi.nlm.nih.gov/pubmed/28127431
http://dx.doi.org/10.1002/rcr2.178
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author O'Callaghan, Cara
Henderson, Robert
Masel, Philip
Tay, George
Tsang, Benjamin
author_facet O'Callaghan, Cara
Henderson, Robert
Masel, Philip
Tay, George
Tsang, Benjamin
author_sort O'Callaghan, Cara
collection PubMed
description Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe generalized muscle weakness, but the diaphragm can be the initial or only muscle involved. Here, we report the case of a 39‐year‐old female who presented with slowly progressive orthopnoea and daytime somnolence. Pulmonary function studies and polysomnogram confirmed bilateral diaphragm weakness complicated by nocturnal hypoventilation and she was subsequently diagnosed with adult‐onset Pompe's disease, a rare metabolic myopathy.
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spelling pubmed-52569532017-01-26 Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure O'Callaghan, Cara Henderson, Robert Masel, Philip Tay, George Tsang, Benjamin Respirol Case Rep Case Reports Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe generalized muscle weakness, but the diaphragm can be the initial or only muscle involved. Here, we report the case of a 39‐year‐old female who presented with slowly progressive orthopnoea and daytime somnolence. Pulmonary function studies and polysomnogram confirmed bilateral diaphragm weakness complicated by nocturnal hypoventilation and she was subsequently diagnosed with adult‐onset Pompe's disease, a rare metabolic myopathy. John Wiley & Sons, Ltd 2016-08-03 /pmc/articles/PMC5256953/ /pubmed/28127431 http://dx.doi.org/10.1002/rcr2.178 Text en © 2016 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
O'Callaghan, Cara
Henderson, Robert
Masel, Philip
Tay, George
Tsang, Benjamin
Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure
title Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure
title_full Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure
title_fullStr Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure
title_full_unstemmed Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure
title_short Adult‐onset Pompe's disease presenting with insidious hypercapnic respiratory failure
title_sort adult‐onset pompe's disease presenting with insidious hypercapnic respiratory failure
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256953/
https://www.ncbi.nlm.nih.gov/pubmed/28127431
http://dx.doi.org/10.1002/rcr2.178
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