15 Years old Female With known Case of Kartagener Syndrome For A Checkup

Chest X- Ray PA view. 

Case Discussion:

This case demonstrates a situs inversus totalis. Here you see dextrocardia with right descending aorta and a right-sided gastric bubble.

Study Questions:

Q: What is the underlying pathology in Kartagener syndrome? 

A: Primary ciliary dyskinesia.

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Q: What are the features of Kartagener syndrome? 

A: complete situs inversus (situs inversus totalis), chronic sinusitis, bronchiectasis

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Q: What are the top differential diagnoses of Kartagener syndrome? 

A:

• Cystic Fibrosis, 
• Allergic Bronchopulmonary Aspergillosis (ABPA), 
• Postinfectious Bronchiectasis, Immune Deficiency Disorders, 
• Young Syndrome

Article To Read:

Kartagener Syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure and/or function leading impaired mucociliary clearance. 

Epidemiology

The prevalence of primary ciliary dyskinesia is approximately 1/12000-1/60000.⁵ Approximately 50% of patient with primary ciliary dyskinesia have Kartagener syndrome/situs abnormality. No gender predilection is recognized. 

Clinical presentation

Kartagener syndrome is characterised by the clinical triad of ¹:

• situs inversus 
• chronic sinusitis and/or nasal polyposis
• bronchiectasis

Other features include :

• telecanthus - widened interpupillary distance by a nasal polyp 
• Infertility in male
• subfertility in female. 

Radiographic features

Plain film

Depend on severity of underlying bronchiectasis, findings include bronchial wall thickening, bronchial dilatation with loss of normal peripheral tapering:

• predilection to involve the right middle, lingular segment of the left upper lobe and the lower lobes
• mucus plugs maybe visible, finger in glove sign
• consolidation
• situs abnormality i.e situs inversus

CT

CT tends to demonstrate bronchiectasis which may be variable in severity. However, changes are much milder than in cystic fibrosis. The morphology of bronchiectasis can be tubular/cylindrical or saccular/cystic.

In addition, CT demonstrates:

• consolidation  
• mucocele, impacted mucus in bronchioles.
• tree-in-bud pattern or centrilobular nodules maybe encountered with mucus impaction and endobronchial spread of infection
• mosaic perfusion/ air trapping as ancillary findings
• eventual scarring may result from recurrent infection, requiring pulmonary resection surgery