A Case of Immotile Cilia Syndrome Diagnosed by Lack of Dynein Inner Arms on Electron Microscopy / 소아알레르기및호흡기학회지

ABSTRACT

Immotile cilia syndrome is an inherited disorder characterized by specific ultrastructural defects of cilia and associated impairment of ciliary motion and mucociliary clearance. Disorders of ciliary structure or function result in chronic sinopulmonary diseases manifested as chronic sinusitis, bronchitis, otitis media, nasal polyposis, and ultimately bronchiectasis. In addition, situs inversus, dextrocardia, and infertility can be associated with dysfunctional ciliary activity. We experienced a case of immotile cilia syndrome presenting with recurrent bronchitis, pneumonia, chronic sinusitis, otitis media, and bronchiectasis. She was diagnosed by lack of dynein inner arm on electron microscopy. Treatment included chest percussion, bronchodilators, antibiotics, and surgical intervention. She has been followed up at regular intervals. We report this case with related literatures.