Related Experiment Video
Updated: Aug 11, 2026
Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
Published on: July 13, 2015
Early diagnosis of primary ciliary dyskinesia in a newborn without situs inversus
R Bromiker1, Z Neeman, B Bar-Oz
1bromi@md2.huji.ac.il
Insights
Primary ciliary dyskinesia (PCD) can cause neonatal respiratory distress, even without situs inversus. Early diagnosis in newborns is crucial for timely treatment and preventing complications.
Area of Science:
- Pediatrics
- Genetics
- Respiratory Medicine
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
- It often presents with respiratory symptoms in neonates, sometimes associated with situs inversus.
Observation:
- This study reports on siblings diagnosed with PCD.
- The first sibling presented with respiratory distress and atelectasis shortly after birth, without situs inversus.
- The second sibling, born a year later, had situs inversus, facilitating immediate PCD diagnosis.
Findings:
- PCD diagnosis in neonates can be challenging, especially without situs inversus.
- The presence of situs inversus aids in rapid PCD diagnosis.
- Respiratory distress and atelectasis are key indicators for suspecting PCD in newborns.
Implications:
- Consider PCD in newborns with respiratory distress or atelectasis, regardless of situs inversus.
- Early diagnosis and treatment initiation are vital for managing PCD and preventing long-term complications.
- Genetic counseling and family screening are important for affected families.
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.
