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Tracheal and lower airway changes in a patient with mucolipidosis type II
Author(s) -
Poore Thomas S.,
Prager Jeremy,
Weinman Jason P.,
Larson Austin,
Houin Paul
Publication year - 2020
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.24765
Subject(s) - medicine , bronchoscopy , tracheobronchomalacia , airway , bronchiectasis , thorax (insect anatomy) , respiratory disease , radiology , pathology , surgery , anatomy , lung
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.