Related Experiment Video
Updated: Jun 17, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
[Primary ciliary dyskinesia causing neonatal respiratory distress]
1Bereich Neonatologie, Kinderklinik der Universität zu Köln. christoph.huenseler@uni-koeln.de
Background:
Primary ciliary dyskinesia (PCD) is a hereditary disorder of structure and function of the cilia of respiratory epithelium of the upper and lower airways. Prevalence is estimated with 1:15 000 to 1:30 000 births. We present a newborn infant with respiratory distress caused by PCD.
Patient:
On the first day of life, the male newborn developed dyspnoe and cyanosis, so that CPAP and short term ventilation was necessary. Varying atelectasis impressed on the chest radiographs and the diagnosis of PCD was made by nasal brush biopsies. Causative is a lack of the inner dynein arms of the cilia. The clinical features of newborns with the diagnoses of PCD are listed and compared with the own case.
Conclusion:
PCD is a rare cause of neonatal respiratory distress and should be considered in term infants with unknown and prolonged course even if Situs inversus is lacking.
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Respiratory Syncytial Virus Disease
Chronic Obstructive Pulmonary Disease I: Introduction
Acute Respiratory Failure-III
Cytomegalovirus Disease
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features

