Hunter's syndrome: A study in airway obstruction

Abstract

Hunter's disease is a genetically transmitted defect known to produce mucopolysaccharide infiltration of multiple organ systems. Upper airway obstruction is caused by an enlarged tongue, deformed pharynx, and short, thick neck. Its eventual lethal outcome by the second decade of life is known to result from an infiltrative cardiomyopathy leading to irreversible heart failure. Instead, our recent experience in the care of five patients with this disorder suggests the lethal event is related to progressive obstruction sequentially involving the upper, mid, and lower airway characterized by gradual deformation and collapse of the trachea. Autopsy and histopathologic whole organ sections demonstrate anteroposterior flattening of the trachea and bronchi with submucosal thickening producing structural alterations known only to this disease.

Otolaryngologic Manifestations of the Mucopolysaccharidoses

“…Involvement of the distal tracheobronchial tree by mucopolysaccharide deposits leads to a weakening of the tracheal cartilage, with subsequent collapse and narrowing of the airway. 12,13 The management of the obstructed airway begins with adenotonsillectomy. In many instances, adenotonsillectomy only resolved the problem temporarily, and invariably tracheostomy was necessary.…”