Cargando…

Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause

Patient: Female, 48 Final Diagnosis: Inclusion body myositis Symptoms: Shortness of breath • weakness Medication: — Clinical Procedure: Biopsy Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over...

Descripción completa

Detalles Bibliográficos
Autores principales: Dardis, Christopher, Antezana, Ariel, Tanji, Kurenai, Maccabee, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490508/
https://www.ncbi.nlm.nih.gov/pubmed/28642454
http://dx.doi.org/10.12659/AJCR.903566
_version_ 1783246995373162496
author Dardis, Christopher
Antezana, Ariel
Tanji, Kurenai
Maccabee, Paul
author_facet Dardis, Christopher
Antezana, Ariel
Tanji, Kurenai
Maccabee, Paul
author_sort Dardis, Christopher
collection PubMed
description Patient: Female, 48 Final Diagnosis: Inclusion body myositis Symptoms: Shortness of breath • weakness Medication: — Clinical Procedure: Biopsy Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome. CASE REPORT: Our patient presented with hypercarbic respiratory failure. This is the first such reported case without signs of weakness elsewhere of which we are aware. We suspected IBM based on her history of progressive weakness and findings on electromyography. There was a delay of 5 years in obtaining biopsy for confirmation, during which she presented with recurrent episodes of respiratory failure despite using non-invasive ventilation. An autopsy revealed the presence of papillary thyroid carcinoma with spread to local lymph nodes. On the basis that these co-morbidities are unlikely to have occurred by chance (we estimate 1×10(−17)), we hypothesize that IBM may be a paraneoplastic condition. We acknowledge that proof would require demonstrating a pathogenic antibody. CONCLUSIONS: IBM should be considered in older patients (age >45) presenting with otherwise unexplained respiratory failure. A workup for possible malignancy in this setting appears reasonable.
format Online
Article
Text
id pubmed-5490508
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher International Scientific Literature, Inc.
record_format MEDLINE/PubMed
spelling pubmed-54905082017-07-05 Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause Dardis, Christopher Antezana, Ariel Tanji, Kurenai Maccabee, Paul Am J Case Rep Articles Patient: Female, 48 Final Diagnosis: Inclusion body myositis Symptoms: Shortness of breath • weakness Medication: — Clinical Procedure: Biopsy Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome. CASE REPORT: Our patient presented with hypercarbic respiratory failure. This is the first such reported case without signs of weakness elsewhere of which we are aware. We suspected IBM based on her history of progressive weakness and findings on electromyography. There was a delay of 5 years in obtaining biopsy for confirmation, during which she presented with recurrent episodes of respiratory failure despite using non-invasive ventilation. An autopsy revealed the presence of papillary thyroid carcinoma with spread to local lymph nodes. On the basis that these co-morbidities are unlikely to have occurred by chance (we estimate 1×10(−17)), we hypothesize that IBM may be a paraneoplastic condition. We acknowledge that proof would require demonstrating a pathogenic antibody. CONCLUSIONS: IBM should be considered in older patients (age >45) presenting with otherwise unexplained respiratory failure. A workup for possible malignancy in this setting appears reasonable. International Scientific Literature, Inc. 2017-06-23 /pmc/articles/PMC5490508/ /pubmed/28642454 http://dx.doi.org/10.12659/AJCR.903566 Text en © Am J Case Rep, 2017 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
Dardis, Christopher
Antezana, Ariel
Tanji, Kurenai
Maccabee, Paul
Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause
title Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause
title_full Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause
title_fullStr Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause
title_full_unstemmed Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause
title_short Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause
title_sort inclusion body myositis: a case presenting with respiratory failure and autopsy findings leading to the hypothesis of a paraneoplastic cause
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490508/
https://www.ncbi.nlm.nih.gov/pubmed/28642454
http://dx.doi.org/10.12659/AJCR.903566
work_keys_str_mv AT dardischristopher inclusionbodymyositisacasepresentingwithrespiratoryfailureandautopsyfindingsleadingtothehypothesisofaparaneoplasticcause
AT antezanaariel inclusionbodymyositisacasepresentingwithrespiratoryfailureandautopsyfindingsleadingtothehypothesisofaparaneoplasticcause
AT tanjikurenai inclusionbodymyositisacasepresentingwithrespiratoryfailureandautopsyfindingsleadingtothehypothesisofaparaneoplasticcause
AT maccabeepaul inclusionbodymyositisacasepresentingwithrespiratoryfailureandautopsyfindingsleadingtothehypothesisofaparaneoplasticcause