Primary ciliary dyskinesia (PCD) is a clinically heterogeneous disease. In
most cases, its clinical manifestation in children is rather unspecific: ch
ronic infectious rhinosinusitis, recurrent acute infections of the upper an
d lower airways and chronic otitis media with effusion. Between 1990 and 19
98 ten patients were diagnosed as PCD. Nine presented a neonatal respirator
y distress syndrome (NRDS) of unknown cause. Six of these patients were new
borns treated in the intensive care unit, one of them needed mechanical ven
tilation. The few cases already described in the literature and the experie
nce with our patients support the possible association of NRDS with PCD.
Conclusion Neonatal respiratory distress syndrome of unknown cause should b
e added to the list of clinical presentation of primary ciliary dyskinesia,
and if further signs and symptoms are indicative of primary ciliary dyskin
esia, investigations to explore this disorder are warranted.