Abstract / Summary
Abstract Background Kartagener syndrome is a rare form of primary ciliary dyskinesia characterized by chronic sinopulmonary disease, bronchiectasis, and situs inversus. Diagnosis is frequently delayed because respiratory manifestations are nonspecific and specialized diagnostic testing may be unavailable, particularly in resource-limited settings. We report what is, to our knowledge, the first reported case of Kartagener syndrome from Somalia, highlighting the diagnostic and management challenges encountered in a resource-limited setting. Case presentation A 15-year-old girl from rural Somalia presented with a lifelong history of recurrent sinopulmonary infections, chronic productive cough, progressive exertional dyspnea, and intermittent hemoptysis. Examination revealed digital clubbing and signs of chronic respiratory disease. Chest radiography and contrast-enhanced computed tomography demonstrated dextrocardia, situs inversus totalis, and extensive bilateral cystic bronchiectasis with superimposed bronchopneumonia. A clinical diagnosis of Kartagener syndrome was made based on the characteristic phenotype, radiological findings, and a PICADAR score of 8/14. Confirmatory investigations, including ciliary function studies and genetic testing, were unavailable because of resource limitations. She was treated with intravenous antibiotics, bronchodilator therapy, and structured airway-clearance therapy, followed by oral azithromycin and daily home-based chest physiotherapy. Family education focused on airway-clearance techniques, recognition of respiratory exacerbations, treatment adherence, and long-term follow-up. Because of the substantial geographic distance from specialist care, follow-up was coordinated with a local primary care physician and supported by telemedicine. At 1 month, her cough and sputum production had markedly decreased, respiratory distress had resolved, and she had returned to school and daily activities. Conclusions Kartagener syndrome should be considered in children and adolescents with recurrent sinopulmonary infections, chronic rhinosinusitis, bronchiectasis, and laterality abnormalities. In resource-limited settings, characteristic clinical and radiological findings can facilitate recognition when definitive diagnostic testing is unavailable, although the limitations of a clinical diagnosis should be acknowledged. Early recognition, sustained airway-clearance therapy, appropriate treatment of respiratory infections, and patient- and family-centered education are important for long-term disease management. This case also illustrates how locally coordinated and remote follow-up may help maintain continuity of care when access to specialized respiratory services is limited.