ODAD3-Related Primary Ciliary Dyskinesia in a Pediatric Patient with Recurrent Pneumonia: A Case Report

Primary Ciliary Dyskinesia (PCD) is a rare, autosomal recessive condition impacting ciliary function, causing defective mucociliary clearance and chronic respiratory infection. Here we describe a 2-year-old female child born to consanguineous parents, with diagnosed situs inversus totalis and chronic pneumonia. She had a high-grade fever with productive cough and also a noteworthy history of neonatal respiratory distress and frequent lower respiratory tract infections. Her PICADAR score was 10, and further evaluation was warranted. Genetic testing established a homozygous nonsense mutation (p. Glu441Ter) in exon 10 of the ODAD3 gene, which is linked to PCD type 30 (CILD30). The patient was managed with intravenous Ceftazidime and daily therapy of hypernebulization. The case highlights the importance of bearing PCD in mind in children with situs anomalies and chronic respiratory illness. Early clinical scoring and genetic testing allow for early intervention, which is the key to preventing chronic pulmonary complications. The case also highlights the importance of genetic counselling in consanguineous marriages. Keywords: Primary ciliary dyskinesia, situs inversus totalis, Dextrocardia, PICADAR score, ODAD3 gene, mutation, pneumonia.