Adult-onset Pompe's disease presenting with insidious hypercapnic respiratory failure.
Respirol Case Rep
; 4(5): e00178, 2016 Sep.
Article
in En
| MEDLINE
| ID: mdl-28127431
ABSTRACT
Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe generalized muscle weakness, but the diaphragm can be the initial or only muscle involved. Here, we report the case of a 39-year-old female who presented with slowly progressive orthopnoea and daytime somnolence. Pulmonary function studies and polysomnogram confirmed bilateral diaphragm weakness complicated by nocturnal hypoventilation and she was subsequently diagnosed with adult-onset Pompe's disease, a rare metabolic myopathy.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Respirol Case Rep
Year:
2016
Document type:
Article