A Case of Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis

Abstract

Primary ciliary dyskinesia (PCD) is a hereditary autosomal recessive disorder of ciliary function, causing impairment of ciliary clearance, that is frequently complicated by chronic rhinosinusitis (CRS), otitis media, chronic bronchitis and male infertility. In this study, we report the case of a 13-year-old boy who presented to us with the chief complaints of nasal discharge, productive cough and otorrhea ever since he was 2 years old. At the age of 12 years, he underwent endoscopic sinus surgery (ESS) for chronic rhinosinusitis, however, the outcome was unfavorable, with mucous rhinorrhea and mucosal adhesions in the nasal cavity persisting after the surgery. He was then referred to our hospital. CT of the nasal sinuses and chest revealed findings suggestive of CRS and bronchiectasis. There was no visceral inversion. ESS was performed a second time, however, the rhinosinusitis recurred within 3 months after the surgery. Serum levels of the IgG subclasses, IgM, and IgA were normal. The concentration of nasal nitric oxide was 160 ppb, which was very low. Electron-microscopic analysis of the nasal cilia showed abnormal structures of the peripheral and central microtubules in some cilia. Based on these findings, we made the definitive diagnosis of PCD in the patient. His family history was negative for PCD. However, genetic analysis revealed that both he and his father had heterozygous mutations in DNAH11. The diagnosis of PCD is not always easy, partly because of its rarity. We should always keep in mind the possibility of PCD in patients presenting with atypical CRS, chronic otitis media and bronchiectasis.