Management of a child with primary ciliary dyskinesia.

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive condition characterized by dysmotile cilia. Typically associated with defects in the cilia structure, it results in impaired mucociliary clearance of pathogens from the lungs and sinuses. Consequently, patients suffer from recurrent sinopulmonary and middle ear infections. We report on the management of a 5-year-old boy who presented with increased work of breathing, fever and crepitations, with an existing diagnosis of PCD with situs inversus totalis. Chest X-ray imaging revealed right lower lobe collapse. He was managed with intensive physiotherapy, nebulized mucolytic agents and antibiotics. However, due to a poor response, he underwent flexible bronchoscopy, which allowed removal of a mucus plug and subsequent re-expansion of his collapsed lobe. Although there is limited evidence for the management of PCD, here we discuss the accepted strategies for its management, based on expert opinion and guidelines for other suppurative lung diseases.