Kartagener Syndrome in a Young Zambian Male: A Case Report

Introduction: Kartagener Syndrome (KS), a subset of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive disorder caused by defective motile cilia. The classical triad of chronic sinusitis, bronchiectasis, and situs inversus defines the syndrome. In many low-resource settings, KS is frequently under-recognized and often misdiagnosed as pulmonary tuberculosis due to overlapping respiratory symptoms. Case Presentation: This case involved a 13-year-old Black Zambian boy who presented with a long-standing history of intermittent productive cough and repeated lower tract infection treatment associated with chronic sinusitis with frequent exacerbation, since infancy. He was initially diagnosed with pulmonary tuberculosis based on clinical and radiological findings, despite the negative GeneXpert treatment continued with little improvement. His treatment comprised a three-month duration of rifampicin, isoniazid, ethambutol and pyrazinamide. His imaging investigations revealed dextrocardia on chest radiograph and complete situs inversus on abdominal ultrasonography. Echocardiography confirmed situs inversus totalis with preserved ventricular function. A high-resolution chest computed tomography scan was suggestive of complete situs inversus providing a higher suspicion of Kartagener Syndrome. Routine laboratory investigations were within normal range. His supportive management, included airway clearance therapy, mucolytics, and prophylactic antibiotics, with significant clinical improvement and no apparent exacerbation in the last 3 months. Conclusion: The diagnosis of Kartagener syndrome is typically challenging and often delayed because the clinical symptoms often mimic the common infectious disease. Since there is no ultimate definite treatment for Kartagener syndrome, early diagnosis and supportive management are critical to prevent irreversible chronic lifelong sequelae complications such as lung damage. This calls for strengthening diagnostic capacity, high index of suspicion in order to make early diagnosis, appropriate timely management, and prevention of irreversible pulmonary damage.