Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series.

ABSTRACT:

Background

Mucopolysaccharidosis (MPS) type IVA is a rare lysosomal storage disorder caused by aberrations of the N-acetyl-galactosamine-6-sulfatase (GALNS) enzyme. MPS IVA is associated with a wide gamut of respiratory and airway disorders that manifest in a continuum of severity. In individuals exhibiting severe phenotypic expression, terminal stages of the disease frequently culminate in life-threatening, critical airway obstruction. These manifestations of end-stage disease are engendered by an insidious progression of multi-level airway pathologies, comprising of tracheomalacia, stenosis, tortuosity and 'buckling'. Historically, the management of end-stage airway disease has predominantly leaned towards palliative modalities. However, contemporary literature has posited that t

SUBMITTER: Kenth J 

PROVIDER: S-EPMC11264958 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature