A 62-year-old man with dyspnea

Misbah Baqir, Jay H. Ryu, Eric J. Sorenson, Eric J. Olson

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

We describe the case of a 62-year-old man who presented with shortness of breath that had progressed over several years. He had a history of a paralyzed right hemidiaphragm for at least the previous 10 years. He also reported weakness in his proximal legs and daytime sleepiness. On examination, he was found to have thoracoabdominal paradox when in supine position. Pulmonary function testing revealed severe restriction; arterial blood gas showed chronic respiratory acidosis. Electromyography showed chronic phrenic neuropathy bilaterally, with mild proximal myopathy. Serum aldolase level was mildly elevated, but serologic tests for connective tissue disorders were within reference range. After extensive clinical investigations, the patient was found to have severely reduced acid α-glucosidase. Genetic analysis confirmed the diagnosis of adult-onset Pompe disease. The patient started treatment with bilevel positive airway pressure titrated during polysomnography, and acid α-glucosidase enzyme replacement was recommended.

Original languageEnglish (US)
Pages (from-to)50-53
Number of pages4
JournalRespiratory Medicine Case Reports
Volume17
DOIs
StatePublished - 2016

Keywords

  • Acid α-glucosidase enzyme
  • Bilevel positive airway pressure
  • Enzyme replacement therapy
  • Forced vital capacity
  • Glycogen storage disease
  • Pompe disease

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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