Primary Ciliary Dyskinesia with Structurally Normal Cilia: An Unusual Diagnosis
Hugo Marcos;Tiago Soares Santos;Paulo Gonçalves;Mário Sousab;Elsa Oliveira; Carlos Carvalho;Mikkel Christian Alanin.
Journal Title:Acta Scientific Otolaryngology
Defects in cilia are associated with several human diseases. Chronic rhinosinusitis with nasal polyps is one of those diseases. Ultrastructural ciliary defects diagnosed by transmission electron microscopy are usually seen. Rarely are found patients who have structurally normal cilia with an abnormal ciliary function. We present 2 cases of 15-year-old and 13-year-old female patients with chronic rhinosinusitis with nasal polyps and primary ciliary dyskinesia with structurally normal cilia. Although they had structurally normal cilia at transmission electron microscopy, when analyzed for variation in ciliary beat axis and ciliary deviation, the results were compatible with primary ciliary dyskinesia