AUTHOR=Artesani Maria Cristina , Santarsiero Sara , Sitzia Emanuela , Lepri Francesca Romana , Magliozzi Monia , Majo Fabio , Ullmann Nicola , Stracuzzi Alessandra , Novelli Antonio , Cristalli Giovanni , Fiocchi Alessandro TITLE=A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report JOURNAL=Frontiers in Pediatrics VOLUME=12 YEAR=2024 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1345265 DOI=10.3389/fped.2024.1345265 ISSN=2296-2360 ABSTRACT=Background

Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus.

Case presentation

We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8.

Conclusion

Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.