Case 27. Storage Wars

Thomas Gustafson, Snigdha Pusalavidyasagar

Research output: Chapter in Book/Report/Conference proceedingChapter


A 61-year-old female presented with a long history of difficulty maintaining sleep, muscle weakness, morning headaches, orthopnea and daytime sleepiness. She was hospitalized for acute hypoxic/hypercapnic respiratory failure, required initial invasive followed by non-invasive ventilation (NIV) with supplemental oxygen. Muscle biopsy was positive for glycogen storage disease type II, and patient was diagnosed with late-onset Pompe disease. Sleep related breathing disorder was treated with Bi-level PAP device and oxygen for few years. Gradual worsening of pulmonary function, necessitated switch in treatment with NIV set in volume assured pressure support mode due to high likelihood of eventual need for on-demand ventilation.

Original languageEnglish (US)
Title of host publicationSleepless and Sleepy
Subtitle of host publication50 Challenging Sleep Medicine Cases
EditorsAlcibiades Rodriguez
PublisherSpringer International Publishing
Number of pages4
ISBN (Electronic)9783031183744
ISBN (Print)9783031183737
StatePublished - Jan 1 2023

Bibliographical note

Publisher Copyright:
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.


  • Hypercapnia
  • Hypoxemia
  • Late onset Pompe disease
  • Non-invasive ventilation
  • Sleep related breathing disorder


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