Presented at the Neonatal Society 2001 Autumn Meeting.

Meeks M, Coren M

St Mary’s Hospital, Paddington, London, UK (introduced by Professor John Wyatt)

This study was a retrospective review of the incidence of neonatal symptoms and admission to a neonatal unit in individuals with primary ciliary dyskinesia (PCD). PCD describes the diseases previously known as Kartagener syndrome and immotile cilia syndrome. It has an incidence of 1:20000 and the symptoms and signs are those of recurrent sinopulmonary infections, subfertility and an association with situs inversus and congenital heart defects (1). The condition is associated with a significant morbidity that can be reduced with early appropriate management (2).

Questionnaires were sent out to 131 families that included 145 individuals with PCD identified through the PCD support group, the Royal Brompton Hospital and University College London.

3 questionnaires were returned by the Post Office and 117 completed questionnaires were received (82%). 65 (55%) individuals were admitted to the neonatal unit of which 50 (43%) had respiratory symptoms following a vaginal delivery. A further 52 (44%) patients that were not admitted to the neonatal unit experienced neonatal respiratory symptoms.

It is suggested that infants with unexplained respiratory distress and situs inversus and those with persistent respiratory neonatal symptoms should be assessed for screening for PCD.

References
1 .Bush A, Cole P, Hariri M, Mackay I, Phillips G, O’Callaghan C, et al. Eur Respir J 1998; 12(4):982-8
2. Ellerman A, Bisgaard H. European Respiratory Journal 1997; 10(10):2376-2379.