Kartagener's syndrome with mediastinic hernia

Clinical History

Situs viscerum inversus with severe respiratory insufficiency

Imaging Findings

The patient was referred to our hospital because of situs viscerum inversus (SIV) associated with severe respiratory insufficiency. On clinical examination, he presented with dyspnea, intercostal and epigastric retractions, and diffuse wheezing at auscultation. Hemogas analysis, plain chest radiograph, spiral CT scan, and scintigraphic distribution of pulmonary perfusion (Q), of ventilation (V), and V/Q ratio were performed.

Discussion

Combined evaluation of all procedures mentioned above showed: a) complete situs viscerum inversus (Fig. 1); b) left lung with normal V/Q ratio and lobar emphysema, involving the upper and, particularly, the middle lobe (these lobes occupied the upper part of the right hemithorax, demonstrating the presence of a mediastinal hernia) (Fig. 2-3); c) right lung with normal V/Q ratio of the lower lobe and collapsed upper lobe (poorly perfused and ventilated) (Fig. 2-3). Additionally, ultrastructural analysis of respiratory cilia in nasal brushing and dynamic evaluation of muco-ciliary clearance were performed and demonstrated the presence of dyskinetic cilia syndrome. This finding associated with SIV proved the presence of a Kartagener's syndrome. Due to failure to thrive and unimproved respiratory distress with hypoxic polycythaemia, the patient was deemed candidate for surgery and underwent left intercostal thoracotomy: a hugely overinflated middle lobe projecting to the right hemithorax and a collapsed right upper lobe were found. Standard middle lobectomy was performed. Clinical findings resulted Chest plain film demonstrated partial re-expansion of the right upper lobe. The postoperative period was uneventful and the patient is in relatively good condition 6 months after repair. Dyskinetic cilia syndrome is a rare genetic disorder (1 new case over 30.000 new borns) in which ciliary motility is abnormal and mucociliary transport is impaired. This leads to chronic infections with bronchiectasis and sinusitis, and infertility. Fifty per cent of patients affected by dyskinetic cilia syndrome present with additional situs viscerum inversus and are classified as Kartagener's syndrome. In addition to SIV, our patient presented with a mediastinic hernia of the left lung which was responsible for the severe respiratory insufficiency.

Differential Diagnosis List

Final Diagnosis

Kartagener's syndrome with mediastinic hernia

URL:	https://eurorad.org/case/700
DOI:	10.1594/EURORAD/CASE.700
ISSN:	1563-4086