Early diagnosis of primary ciliary dyskinesia in a newborn without situs inversus.

UNLABELLED: Primary ciliary dyskinesia has been reported as a rare cause of respiratory distress during the neonatal period. This diagnosis is readily suspected in cases presenting with accompanying situs inversus. The aim of this study was to report on a pair of siblings with primary ciliary dyskinesia. The first case was an infant diagnosed with primary ciliary dyskinesia at the age of 14 d despite lack of situs inversus. The infant had presented with respiratory distress and atelectasis almost immediately after birth. The sibling, born one year later, presented with situs inversus, therefore allowing diagnosis of primary ciliary dyskinesia to be made immediately after birth.

CONCLUSIONS: Diagnosis of primary ciliary dyskinesia should be considered in newborns presenting with respiratory distress or atelectasis. Early institution of an adequate treatment programme and follow-up may reduce or prevent further complications of the disease.