Tracheal and lower airway changes in a patient with mucolipidosis type II.
airway and lung cell biology
bronchoscopy
pulmonary physiology
pulmonology
Journal
Pediatric pulmonology
ISSN: 1099-0496
Titre abrégé: Pediatr Pulmonol
Pays: United States
ID NLM: 8510590
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
23
12
2019
revised:
18
03
2020
accepted:
22
03
2020
pubmed:
10
4
2020
medline:
15
12
2020
entrez:
10
4
2020
Statut:
ppublish
Résumé
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. 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. 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.
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1843-1845Subventions
Organisme : NHLBI NIH HHS
ID : T32 HL007670
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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