Primary ciliary dyskinesia (PCD) is a clinically heterogeneous disease. In most cases, its clinical manifestation in children is rather unspecific: chronic infectious rhinnosinusitis, recurrent acute infections of the upper and lower airways and chronic otitis media with effusion. Between 1990 and 1998 ten patients were diagnosed as PCD. Nine presented a neonatal respiratory distress syndrome (NRDS) of unknown cause. Six of these patients were newborns treated in the intensive care unit, one of them needed mechanical ventilation. The few cases already described in the literature and the experience with our patients support the possible association of NRDS with PCD.
Conclusion: Neonatal respiratory distress syndrome of unknown cause should be added to the list of clinical presentation of primary ciliary dyskinesia, and if further signs and symptoms are indicative of primary ciliary dyskinesia, investigations to explore this disorder are warranted.