Year: 2025
Type: article
Study design: Case Report
Abstract: A 20-year-old male with Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) presented with severe mitral valve stenosis, obstructive sleep apnea, and progressive respiratory compromise due to extensive tracheobronchial involvement. Chest CT revealed diffuse tracheal-bronchial wall thickening, fixed tracheal angulation, and significant airway narrowing consistent with glycosaminoglycan accumulation characteristic of MPS VI.
Source: Pediatric Pulmonology
DOI: 10.1002/ppul.71007
Author: Furkan Ufuk
Institutions: University of Chicago, University of Chicago Medical Center
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4407945004