Purpose or Case Report: Morquio A syndrome is an autosomal recessive lysosomal storage disorder characterized by skeletal dysplasia and progressive disability due to orthopedic complications, spinal cord compression and airway compromise. Although the bony changes and cervical spine instability have been well described in the radiology literature, the importance of imaging the airway in these patients has received scant attention. The purpose of this poster is to illustrate the progressive abnormality of the thoracic inlet and trachea seen in children and young adults with Morquio A syndrome.
The interplay of pectus carinatum, hypertrophied clavicular heads and upper thoracic kyphosis leads to bony narrowing of the thoracic inlet. Furthermore, glycosaminoglycan deposition degrades the structural integrity of the tracheal wall, creating a twisted and floppy airway. Additional crowding by a crossing tortuous right brachiocephalic artery and sometimes the thyroid gland contribute to progressive narrowing of the trachea at the thoracic inlet. Imbalance of growth between the skeleton and the airway and blood vessels may also play a role.
We present a series of patients with Morqiuo A syndrome, with multimodality imaging depicting the complex anatomy of the thoracic inlet contributing to airway compromise. Radiographs of the neck, chest or spine can suggest airway narrowing with a tilted hourglass shape of the trachea seen in the frontal projection; lateral views, though, are often limited. MRI of the cervical spine, frequently acquired to evaluate the craniocervical junction, also allows for assessment of the thoracic inlet including the trachea and crossing right brachiocephalic artery. CT angiogram of the chest can more clearly delineate vascular, bony and airway relationships in individuals with declining respiratory function or unexpected airway difficulty during anesthetic management. Three dimensional rendering and airway fly-through techniques may help guide anesthetic care and, in extreme cases, airway reconstruction. The imaging features of the thoracic inlet in this group of Morquio A patients are correlated with clinical phenotype, pulmonary function tests, and bronchoscopy when available.
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