Article Text
Summary
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.
- paediatrics
- genetics
- respiratory medicine
- paediatric surgery
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Footnotes
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.