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A 58-Year-Old Man with Hypercapnic Respiratory Failure

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A Case-Based Guide to Neuromuscular Pathology

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Abstract

A 58-year-old man with a past medical history of myocardial infarction and systolic congestive heart failure presented with 2 weeks of worsening shortness of breath. He also reported 2 years of mild progressive proximal limb weakness. He was intubated due to hypercapnic respiratory failure. He underwent a muscle biopsy which showed a myopathy with presence of autophagic vacuoles, sarcoplasmic globular inclusions, and increased glycogen accumulation. The dried blood spot assay showed reduced acid α-1,4-glucosidase (GAA) activity. The subsequent GAA gene test revealed compound heterozygous mutations. He was diagnosed with late-onset Pompe disease. He received enzyme replacement therapy with improvement of his limb and respiratory muscle weakness.

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Author information

Authors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Neurology, New York University Langone–Brooklyn, New York, NY, USA

    Patrick Kwon

  3. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Susan C. Shin

Authors
  1. Lan Zhou
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  2. Patrick Kwon
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  3. Susan C. Shin
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Corresponding author

Correspondence to Lan Zhou .

Editor information

Editors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Dennis K. Burns

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

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Zhou, L., Kwon, P., Shin, S.C. (2020). A 58-Year-Old Man with Hypercapnic Respiratory Failure. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_16

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  • DOI: https://doi.org/10.1007/978-3-030-25682-1_16

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-25681-4

  • Online ISBN: 978-3-030-25682-1

  • eBook Packages: MedicineMedicine (R0)

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