title: Late-onset Pompe disease with left-sided bronchomalacia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Chia-Feng
authors.initials: CF
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Mei-Jy
authors.initials: MJ
authors.lastname: Jeng
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Yu-Sheng
authors.initials: YS
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Pei-Chen
authors.initials: PC
authors.lastname: Taso
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan. wjsoong@vghtpe.gov.tw.
authors.forename: Wen-Jue
authors.initials: WJ
authors.lastname: Soong
mesh_terms: D000293:Adolescent; D055091:Bronchomalacia / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D001999:Bronchoscopy; D045422:Continuous Positive Airway Pressure; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D020181:Sleep Apnea, Obstructive / Q000150:complications / Q000628:therapy; D015607:Stents
keywords: bronchial stent; bronchomalacia; flexible bronchoscopy; late-onset Pompe disease