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

R. Bromiker*, Z. Neeman, B. Bar-Oz, A. Avital, J. Bar-Ziv, C. Springer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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 of atelectasis. Early institution of an adequate treatment programme and follow-up may reduce of prevent further complications of the disease.

Original languageEnglish
Pages (from-to)1002-1005
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Volume91
Issue number9
DOIs
StatePublished - Sep 2002
Externally publishedYes

Keywords

  • Immotile cilia syndrome
  • Kartagener's syndrome
  • Primary ciliary dyskinesia
  • Respiratory distress syndrome

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