Tracheal and lower airway changes in a patient with mucolipidosis type II. Issue 7 (8th April 2020)

• Record Type: Journal Article
• Authors: Poore, Thomas S.; Prager, Jeremy; Weinman, Jason P.; Larson, Austin; Houin, Paul
• Is Part Of: Pediatric pulmonology. Volume 55:Issue 7(2020)
• Page Start: 1843
• Page End: 1845
• Publication Date: 2020-04-08
• Subjects: airway and lung cell biology -- bronchoscopy -- pulmonary physiology -- pulmonology; Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.24765
• Languages: English
• ISSNs: 8755-6863

Abstract

Abstract: Introduction: Mucolipidosis type II (MLII) is a lysosomal storage disease causing systemic deposition of mucopolysaccharides. We describe imaging and bronchoscopy findings not previously reported in the literature in a child with MLII. Case: A 9‐year‐old with MLII s/p hematopoietic stem‐cell transplant (HSCT), bronchiectasis, and aspiration presented with recurrent respiratory illnesses. Bronchoscopy and chest computed tomography were performed, showing a saber‐sheath trachea with fixed narrowing and curvature. Discussion: This case describes potentially life‐threatening airway distortion in MLII despite HSCT that cannot be ameliorated with tracheostomy. Etiology is unknown but likely due to abnormal deposition causing an immobile, stenotic airway and restricted thorax.