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Primary ciliary dyskinesia: a cause of neonatal respiratory distress
1Department of Neonatal Services, Aga Khan University, Karachi.
Insights
Primary ciliary dyskinesia (PCD) often presents in newborns with respiratory distress, with over half of cases having a family history. Early recognition is crucial, even with suggestive imaging, to avoid diagnostic delays in infants.
Area of Science:
- Pediatrics
- Genetics
- Respiratory Medicine
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder.
- It typically causes chronic respiratory issues.
- PCD can infrequently manifest as neonatal respiratory distress.
Purpose of the Study:
- To investigate the presentation of PCD in neonates.
- To highlight diagnostic challenges and delays.
- To emphasize the importance of early PCD recognition in newborns.
Main Methods:
- Retrospective review of 12 children diagnosed with PCD.
- Analysis of clinical presentation, family history, and diagnostic timelines.
- Evaluation of radiological findings in relation to diagnosis.
Main Results:
- 11 out of 12 PCD cases presented neonatally.
- 50% of patients had a positive family history.
- Diagnostic delays occurred despite suggestive radiological signs.
Conclusions:
- PCD frequently presents in the neonatal period.
- Early respiratory distress and dextrocardia in newborns warrant PCD consideration.
- Timely diagnosis is essential to manage chronic respiratory problems associated with PCD.
Abstract:
Primary ciliary dyskinesia (PCD) is a rare disorder associated with chronic respiratory problems and even more infrequently as a cause of neonatal respiratory distress. Of consecutive 12 children seen with a diagnosis of PCD, the disorder presented within the neonatal period in 11, with a positive family history in 50%. The diagnosis was delayed in several cases, despite suggestive radiological findings. The data highlights the importance of recognizing PCD in newborns presenting with early respiratory distress and isolated dextrocardia.