Affiliations 

  • 1 Hospital Sultanah Aminah, Department of Respiratory, Johor Bahru, Malaysia. loong1225@hotmail.com
  • 2 Hospital Sultanah Aminah, Department of Respiratory, Johor Bahru, Malaysia
  • 3 Hospital Sultanah Aminah, Department of Anaesthesiology and Critical Care, Johor Bahru, Malaysia
  • 4 Hospital Kuala Lumpur, Department of Surgery (Thoracic Surgery), Malaysia
  • 5 Hospital Kuala Lumpur, Department of Anaesthesiology and Critical Care, Malaysia
  • 6 Hospital Kuala Lumpur, Genetic Department, Malaysia
Med J Malaysia, 2021 05;76(3):441-445.
PMID: 34031351

Abstract

Hunter Syndrome is a genetic disease characterized by deficiency of Iduronate-2-Sulfatase enzyme activity, resulting in accumulation of glycoaminoglycans in various organs including the central airways. We report a case of severe tracheomalacia and airway stenosis at Hospital Sultanah Aminah, Johor Bahru, Malaysia requiring mechanical ventilation in a middle aged gentleman who was previously undiagnosed of mucopolysaccharidosis. The patient underwent emergency tracheostomy for failed intubation, when he presented with shortness of breath and acute respiratory failure. A contrast-enhanced computed tomography of the neck and thorax revealed that the trachea distal to the tracheostomy tube had collapsed with narrowed right and left main bronchus. These findings were confirmed via direct visualization of the airway through a flexible bronchoscopy. Eventually, a tracheal stenting were performed to maintain the airway patency and assist in weaning off from mechanical ventilation. Further investigations to identify the aetiology of the central airway stenosis revealed elevated urinary glycoaminoglycans and the absence of iduronate-2-Sulfatase activity tested on dried blood spots, thus confirming the diagnosis of Hunter Syndrome. Managing mucopolysacharidosis with central airway obstruction requires multidisciplinary team effort in handling the difficult airway, anaesthesiology risk, potential comorbidities and providing genetic counselling.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.