IS Case 52: Kartagener Syndrome

Lisa Siripun, MD


Imaging Sciences URMC 2008
Publication Date: 2009-05-19

History

A 69-year-old woman presented to the hospital with dyspnea.

Diagnosis

Kartagener syndrome

Discussion

Kartagener syndrome or dyskinetic cilia syndrome (DCS) is an autosomal recessive disease that produces an abnormality in ciliary structure which results in abnormal ciliary motion characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Male infertility can also occur. The incidence of this genetical disorder is estimated about 1/25,000.

The defective cilia lining the respiratory tract are unable to clear the secretions and pathogenic bacteria, resulting in mucus retention and chronic or recurrent respiratory tract infection leading to damage to airways walls. Patients with Kartagener syndrome typically present in childhood with symptoms related to bronchitis, sinusitis and rhinitis. Bronchiectasis usually develops in childhood and young adulthood and it is associated with recurrent pneumonia with a predilection for the right middle lobe and both lower lobes. For fertility, most men with this syndrome have living but immotile spermatozoa and are infertile. Women likewise have decreased fertility, with fewer than 50% successfully completing pregnancy. Situs inversus is found in 50% of the patients with this syndrome.

Radiographic findings include:

CT findings include:

References

  1. Bent JP. Kartagener syndrome. E-medicine. January 3, 2007. http://www.emedicine.com/med/topic1220.htm
  2. Sharma GD. Primary ciliary dyskinesia. E-medicine. June 9, 2006. http://www.emedicine.com/ped/topic1166.htm
  3. Afzelius BA, Bergström S-E. Primary ciliary dyskinesia (immotile-cilia syndrome). Uptodate.

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