Primary Ciliary Dyskinesia With Central Pair Agenesis

Abstract

The etiology of bronchiectasis is undetermined in one half of adults. Consideration of primary ciliary dyskinesia (PCD), a diagnosis made in childhood, may not occur in adults without dextrocardia. A 37-year-old man with recurrent sinusitis, cough, and sputum production was noted to have bronchiectasis on chest computed tomography. A work-up for tuberculosis, human immunodeficiency syndrome infection, cystic fibrosis, α-1 antitrypsin deficiency, and collagen vascular disease was negative. There was no family history of chronic lung disease but the mother and father were distant relatives. A maxillary sinus biopsy was performed to rule out PCD and it came back positive with central pair agenesis on transmission electron microscopy. PCD with central pair agenesis does not occur with dextrocardia and has never been clinically described in an adult. Definitive diagnosis requires ciliary biopsy and cross-sectional examination with electron microscopy. All adults with idiopathic bronchiectasis should be considered for ciliary biopsy.