BMJ Case Reports 2018; doi:10.1136/bcr-2018-224964
  • Rare disease

Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia

  1. Sharon D Dell
  1. Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Sharon D Dell,{at}
  • Accepted 3 August 2018
  • Published 12 September 2018


Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD.


  • Contributors HG was responsible for writing the case and organising the discussion. SDD supervised the case and contributed with the expert opinion.

  • Funding This work is funded by an NIH with a grant number U54HL096458.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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