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Late-onset Pompe disease with left-sided bronchomalacia
Chia-Feng Yang1, Dau-Ming Niu2, Mei-Jy Jeng1
1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Respiratory Care
|October 16, 2014
Summary
Late-onset Pompe disease can affect the lower airways, a rare occurrence. Flexible bronchoscopy successfully diagnosed and managed airway collapse, stabilizing respiratory function and resolving pulmonary hypertension.
Area of Science:
- Rare genetic disorders
- Pulmonology
- Neuromuscular diseases
Background:
- Pompe disease is a rare genetic disorder caused by alpha-glucosidase deficiency.
- Late-onset Pompe disease (LOPD) typically presents with progressive muscle weakness.
- Lower airway involvement is uncommon in LOPD.
Observation:
- A 16-year-old female with LOPD experienced significant respiratory decline.
- Echocardiography revealed pulmonary hypertension.
- The patient was undergoing enzyme replacement therapy and nocturnal CPAP ventilation.
Findings:
- Flexible bronchoscopy identified and led to the stenting of a collapsed bronchus.
- Post-stenting, the patient's pulmonary function stabilized.
- Pulmonary hypertension resolved after the intervention.
Implications:
- This case demonstrates that lower airway compromise can occur in LOPD.
- Flexible bronchoscopy is an effective diagnostic and therapeutic tool for lower airway collapse in LOPD.
- Timely intervention can improve respiratory outcomes in affected patients.
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