A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy

Abstract

Primary ciliary aplasia is a rare congenital disease that alters normal function of the mucociliary apparatus. Patients generally present with severe, recurrent, or chronic airway infection. This report describes the ultrastructural alterations observed in the nasal mucosa of a 30-year-old female patient who has suffered from chronic upper and lower respiratory tract infections since childhood. These ultrastructural features are consistent with complete ciliary aplasia, a rare form of primary ciliary dyskinesia. A high degree of suspicion for this disorder is mandatory for accurate diagnosis and prompt treatment. A careful description of the diagnostic procedures and treatment of this extremely rare disorder has been provided.