Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants

Abstract

Primary ciliary dyskinesia (PCD) syndrome associated with abnormal ciliary orientation but with normal ciliary ultrastructure has been described in adults, but there are no normal ranges for orientation in infants, despite the fact that half of all patients with PCD present in the new-born period. Nasal brush biopsies were obtained from eight infants (three males), mean age 13.1 months, range 7-23, in order to determine ciliary orientation. They had no upper or lower airway disease and normal organ arrangement and were undergoing general anaesthesia for other reasons. Two infants with typical PCD syndrome but normal ultrastructure of individual cilia also had orientation studies. In the eight normal subjects, a mean of 254 central pairs was examined, range 82-453. The mean ciliary orientation was 14.9 degrees, range 12.9-17.5. The two infants with PCD syndrome but normal ultrastructure of individual cilia had ciliary orientation of (Case 1) 44.5 degrees (range 10.6-64.5) in 218 central pairs; and on a second occasion, 28.9 degrees, (range 9.0-47.5) in 259 central pairs; for Case 2, 24.4 degrees, (range 13.1-38.4) in 196 central pairs. The normal range for ciliary orientation is similar in infants to that described in other work in adults. The two cases of phenotypic primary ciliary dyskinesia in the presence of normal ciliary ultrastructure but abnormal ciliary orientation in infants supports the contention that measurement of ciliary orientation should be part of the assessment of ciliary structure and function in cases of possible primary ciliary dyskinesia, in particular when the ultrastructure of individual cilia appear to be normal.