When to suspect primary ciliary dyskinesia in children

Abstract

Primary ciliary dyskinesia [PCD] is an uncommon, autosomal recessively inherited condition that is often overlooked and undertreated in childhood. Amidst the myriad of children with coloured nasal secretions, otitis media and a wet cough, there exists a subset with PCD as the underlying unifying diagnosis. In this paper we have highlighted the varying clinical manifestations of PCD, emphasising different presentations between neonates, toddlers, school aged children and adults.

Keywords: Primary Ciliary Dyskinesia [PCD]; chronic wet cough.; neonatal respiratory distress; persistent rhinosinusitis; situs inversus.