Primary ciliary dyskinesia with situs inversus totalis.

Abstract

An adolescent male presented with abdominal pain and cough for 2 days, along with a history of recurrent fever and cough over the past 3 months. Clinical examination revealed dextrocardia, with otherwise unremarkable systemic findings. Imaging confirmed situs inversus totalis, and laboratory evaluation showed direct hyperbilirubinaemia, without radiological evidence of bronchiectasis. Given the clinical suspicion of primary ciliary dyskinesia (PCD), whole exome sequencing was performed, revealing a mutation in the ODAD1 gene, a key component of the outer dynein arm docking complex, confirming the diagnosis of PCD.