Br J Hosp Med (Lond). 2026 May 22;87(5):54134. doi: 10.31083/BJHM54134.
ABSTRACT
AIMS/BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by structural or functional abnormalities of the cilia, which prevent proper oscillation. Patients typically present with symptoms such as chronic respiratory infections, bronchiectasis, and, in approximately half of the cases, inversion of internal organs. Due to its diverse clinical manifestations and lack of specificity, PCD is often misdiagnosed or underdiagnosed, and diagnosis in the neonatal period remains notably challenging. Therefore, this study aimed to analyse the clinical characteristics of the two cases, optimise PCD treatment, and improve the accuracy and timeliness of PCD diagnosis.
CASE PRESENTATION: This article reports two cases of twin sisters at 34+3 weeks of gestation who were diagnosed with PCD during the neonatal period. The patients, twin girls conceived naturally, were transferred to Department of Pediatrics after cesarean delivery at Pu'er People's Hospital on 26 September 2024, at 11:24, due to cyanosis and shortness of breath after birth. Prenatal examination at 13 weeks revealed "dextrocardia with abdominal situs inversus" in both fetuses. Delivery was by emergency cesarean section due to premature rupture of membranes. After birth, the twins presented with respiratory distress symptoms, including cyanosis and shortness of breath. Bedside chest radiography revealed hyaline membrane disease, dextrocardia, and abdominal situs inversus. Treatments such as non-invasive ventilator-assisted ventilation and anti-infective therapy were initiated after admission. However, the patients repeatedly experienced breathing difficulties, alternating atelectasis in both lungs, difficulty weaning from the ventilator, and episodes of desaturation.
RESULTS: Peripheral blood genetic testing confirmed a Dynein Axonemal Heavy Chain 5 (DNAH5) gene mutation as the cause of PCD. Following treatment with non-invasive ventilator-assisted ventilation, oxygen therapy in an incubator, nebulization (e.g., hypertonic saline), patting back and sputum aspiration, prone position ventilation, and postural drainage, both patients improved and were discharged.
CONCLUSION: In neonates with unexplained respiratory distress, especially those with situs inversus, early refinement of diagnostic tools, including genetic testing, is crucial to confirm PCD promptly, enable timely intervention, and prevent irreversible lung injury.
PMID:42216596 | DOI:10.31083/BJHM54134