PT  - JOURNAL ARTICLE
AU  - Yang, Chia-Feng
AU  - Niu, Dau-Ming
AU  - Jeng, Mei-Jy
AU  - Lee, Yu-Sheng
AU  - Taso, Pei-Chen
AU  - Soong, Wen-Jue
TI  - Late-Onset Pompe Disease With Left-Sided Bronchomalacia
AID  - 10.4187/respcare.03419
DP  - 2015 Feb 01
TA  - Respiratory Care
PG  - e26--e29
VI  - 60
IP  - 2
4099  - http://rc.rcjournal.com/content/60/2/e26.short
4100  - http://rc.rcjournal.com/content/60/2/e26.full
AB  - Pompe disease is a rare autosomal recessive disorder caused by α-glucosidase deficiency. Lower airway involvement and management are rare in patients with late-onset Pompe disease. We describe the case of a 16-y-old girl with late-onset Pompe disease who presented with obvious progressive deterioration in respiratory function. Pulmonary hypertension was also apparent on echocardiography. She had been on enzyme replacement therapy and nighttime CPAP ventilation for several years. Flexible bronchoscopy was used for diagnosis and subsequent implantation of a bronchial airway stent. Following implantation of the stent, the patient's pulmonary function stabilized, and her pulmonary hypertension resolved. The patient continued on enzyme replacement therapy and nighttime CPAP ventilation. This case highlights that lower airway involvement may occur with late-onset Pompe disease and that flexible bronchoscopy can be an effective tool for both diagnosis and management of lower airway collapse in late-onset Pompe disease.