Kartagener Syndrome

Kartagener syndrome, also known as primary ciliary dyskinesia, is a rare autosomal recessive disease characterized by ciliary dysfunction, such as in the respiratory tract, sinuses, and Fallopian tube. It is associated with situs inversus (reversal of internal organs), chronic sinusitus, bronchiectasis, and infertility.

Kartagener Syndrome: Also known as primary ciliary dyskinesia or immotile-cilia syndrome, this disease is characterized by congenital impairment of mucociliary clearance due to defects of the cilia in the airways that cause them to not beat.

Epidemiology: The frequency of Kartagener Syndrome is roughly 1:32,000 births. The disease impacts males and females equally. It is most severe in the first decade of life.

Signs: Newborns with Kartagener Syndrome often experience respiratory distress, respiratory infections, and chronic cough. Children will often also experience continuous rhinosinusitis and nasal polyposis. Children may also experience frequent otitis media. Patients will often present with chronic bronchitis and recurrent pneumonias. While not of clinical importance, patients may present with situs inversus in roughly 50% of cases. Fertility is decreased in both men and woman.

Differential Diagnosis: Immunosuppression, Alpha1-Antitryspin Deficiency

Diagnosis: Final diagnosis usually rests upon examination of ciliary function and structure from a nasal biopsy

Management: Patients require frequent chest physiotherapy. Patients also require frequent antibiotics and are especially at risk for pseudomonas aeruginosa infection. Patients must be advised never to smoke. With careful management, patients can be expected to live a normal life span.  

 

Case #1. Dextrocardia visualized. Tubular opacities especially well seen in left lower lung suggestive of bronchiectasis.
Case #2. Patient with Kartagener syndrome and situs inversus. Note presence of stomach bubble below right hemidiaphragm.