Kartagener’s syndrome

Clinical History

47-year-old male patient presented with difficulty breathing for two weeks, low grade fever for 3 days and a chronic productive cough with yellow sputum.
Lung auscultation revealed occasional bi-basilar rhonchi. WBC showed mild leukocytosis with leftward shift.

Imaging Findings

Chest X-ray (panel A) demonstrated situs inversus totalis (dextrocardia, right-sided aortic arch, left-sided liver and right sided gastric bubble) with tram-tracking and left basilar consolidation. CT of the paranasal sinuses (panel B) demonstrated mucosal thickening and air fluid levels consistent with sinusitis. High-Resolution CT chest demonstrated situs inversus totalis, bilobed right lung and trilobed left lung, left middle lobe bronchiectasis with scattered “tree in bud” nodular pattern consistent with bronchiolitis and some patchy left basilar consolidation. High-Resolution CT chest (panel C) demonstrated left middle lobe bronchiectasis with scattered “tree in bud” nodular pattern consistent with bronchiolitis and some patchy left basilar consolidation.

Discussion

Kartagener’s syndrome is characterised by the triad of situs inversus, bronchiectasis and sinusitis [1]. It is an autosomal recessive disease due to mutations in genes (DNAI1 and DNAH5) that code for ciliary proteins (dynein) and also play a role in situs determination in the developing embryo (heterotaxy). Symptoms result from defective ciliary motility in the upper respiratory tract, eustachian tubes, spermatozoa and fallopian tubes.

Patients present with chronic upper and lower respiratory tract disease resulting from ineffective mucociliary clearance. A typical presentation is that of rhinorrhoea and/or mucopurulent discharge since birth. Immotile spermatozoa result in male sterility.

Sinus radiographs and CT typically demonstrate mucosal thickening, opacified sinus cavities, and hypoplastic frontal sinuses. Chest radiograph may include bronchial wall thickening, hyperinflation, atelectasis, bronchiectasis, and situs inversus (in 50% of patients with primary ciliary dyskinesia). The presence of situs inversus strongly suggests Kartagener syndrome [2]. Bronchiectasis occurs in the lower lobes in patients with Kartagener syndrome. High-resolution CT of the chest is the most sensitive modality for documenting early and subtle abnormalities within airways and pulmonary parenchyma when compared to routine chest radiographs. Consideration should be given to this imaging technique early in the presentation of primary ciliary dyskinesia (PCD) syndromes, when a chest radiograph may not be sensitive enough to identify disease processes or when another differential is being considered.

The most common infectious organisms affecting children with primary ciliary dyskinesia (PCD) are Haemophilus influenza and Staphylococcus aureus. These patients should receive comprehensive immunisations, including the influenza A and pneumococcal vaccines. Continuous or intermittent antibiotics are used to treat upper and lower airway infections. Children with primary ciliary dyskinesia are good candidates for long-term low-dose preventative antibiotics. Obstructive lung disease should be treated with inhaled bronchodilators and aggressive pulmonary toilet. Mucolytics may be helpful. Surgical interventions to treat middle ear disease, maxillary sinusitis, and nasal polyposis may be necessary in a subset of patients. Surgical intervention for bronchiectasis is rarely recommended, but can be beneficial when the disease is localised. Bilateral lung transplantation is the therapy of choice in patients with end-stage respiratory insufficiency, although heart-lung transplantation or a modified surgical procedure is required in patients with situs inversus.

Differential Diagnosis List

Final Diagnosis

Kartagener’s syndrome

URL:	https://eurorad.org/case/9549
DOI:	10.1594/EURORAD/CASE.9549
ISSN:	1563-4086