Intraoperative diagnosis of primary ciliary dyskinesia

Primary ciliary dyskinesia refers to clinical disease attributable to congenitally abnormal or absent ciliary motility. Diagnosis typically requires electron microscopy to document aberrant axoneme ultrastructure. Electron microscopy, however, remains inaccurate and inconvenient as a screening test for symptomatic individuals. To avoid delays in diagnosis and to ensure adequacy of the tissue sample, we recommend a tracheal biopsy with an intraoperative histologic examination of ciliary motion. This study included patients evaluated at our institution for recurrent or chronic upper respiratory conditions characterized by chronic sinusitis, chronic mucoid otitis, and chronic bronchitis. A tracheal mucosa biopsy sample was obtained from each patient and was immediately examined in the operating room using light microscopy. If the magnified image demonstrated normal ciliary motility, primary ciliary dyskinesia was excluded and electron microscopy was not ordered. In the absence of normal ciliary motility, the specimen was placed in glutaraldehyde and ultrastructural axoneme morphology was evaluated. In the last 5 years, we have evaluated ciliary motility in 20 patients. Three patients had abnormal ciliary motility identified by light microscopy, and primary ciliary dyskinesia was confirmed histologically in each patient. In the remaining 17 patients, normal ciliary motility was observed, obviating the need for electron microscopy. We advocate intraoperative microscopic study of ciliary motility as a rapid, simple, accurate, and inexpensive technique to screen patients for primary ciliary dyskinesia.