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 ultrastructu re. Electron microscopy, however, remains inaccurate and inconvenient as a screening test for symptomatic individuals. To avoid delays in di agnosis and to ensure adequacy of the tissue sample, we recommend a tr acheal 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 ch ronic sinusitis, chronic mucoid otitis, and chronic bronchitis. A trac heal mucosa biopsy sample was obtained from each patient and was immed iately examined in the operating room using light microscopy. If the m agnified image demonstrated normal ciliary motility, primary ciliary d yskinesia was excluded and electron microscopy was not ordered. In the absence of normal ciliary motility, the specimen was placed in glutar aldehyde 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 obs erved, obviating the need for electron microscopy. We advocate intraop erative microscopic study of ciliary motility as a rapid, simple, accu rate, and inexpensive technique to screen patients for primary ciliary dyskinesia.