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 language||English (US)|
|Title of host publication||Sleepless and Sleepy|
|Subtitle of host publication||50 Challenging Sleep Medicine Cases|
|Publisher||Springer International Publishing|
|Number of pages||4|
|State||Published - Jan 1 2023|
Bibliographical notePublisher Copyright:
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.
- Late onset Pompe disease
- Non-invasive ventilation
- Sleep related breathing disorder