RT Journal Article
SR Electronic
T1 Late-Onset Pompe Disease With Left-Sided Bronchomalacia
JF Respiratory Care
FD American Association for Respiratory Care
SP e26
OP e29
DO 10.4187/respcare.03419
VO 60
IS 2
A1 Yang, Chia-Feng
A1 Niu, Dau-Ming
A1 Jeng, Mei-Jy
A1 Lee, Yu-Sheng
A1 Taso, Pei-Chen
A1 Soong, Wen-Jue
YR 2015
UL http://rc.rcjournal.com/content/60/2/e26.abstract
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.