Abstract Background Primary ciliary dyskinesia (PCD) is a rare, genetically diverse disorder marked by defective motile cilia, leading to impaired mucociliary clearance and frequent respiratory infections. Kartagener’s syndrome, which includes situs inversus totalis (SIT), sinusitis, and bronchiectasis, occurs in approximately half of PCD cases. Early diagnosis and intervention can reduce morbidity. Case Presentation A 27-year-old male with controlled asthma presented with hemoptysis, a productive cough, exertional dyspnea, night sweats, and weight loss. Imaging showed SIT, bilateral bronchiectasis, and cavitary pneumonia, which raised concerns for tuberculosis. However, TB screening and sputum tests were negative. Sputum culture grew Pseudomonas aeruginosa, leading to treatment with oral ciprofloxacin. The presence of SIT, chronic sinusitis, and bronchiectasis suggested Kartagener’s syndrome. Genetic testing for DNAI1 and DNAH5 mutations confirmed the diagnosis. A family history of dextrocardia in two siblings further supported the hereditary nature of the condition. Discussion PCD can be difficult to recognize in partial or atypical presentations. In this case, SIT and recurrent infections raised suspicion, and the isolation of Pseudomonas aeruginosa was consistent with its common presence in bronchiectasis. Genetic testing confirmed the diagnosis, providing clarity and allowing for the identification of at-risk family members. A multidisciplinary approach involving pulmonology and genetic counseling can improve patient outcomes and quality of life. Conclusion Early recognition of PCD, especially when SIT is present, is crucial for effective management. Genetic testing, in combination with clinical and radiologic findings, is essential for confirming the diagnosis and guiding family members. Timely interventions, including airway clearance and infection control, are key to minimizing complications and promoting long-term respiratory health. This abstract is funded by: None
Rivas et al. (Fri,) studied this question.