Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia. (12th September 2018)

• Record Type: Journal Article
• Authors: Ghandourah, Hasan; Dell, Sharon D
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-09-12
• Subjects: paediatrics -- genetics -- respiratory medicine -- paediatric surgery; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-224964
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.