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These characteristic findings reveal a rare disease

Julie Vajnar, PA-C, RT

Julie Vajnar is the department editor for Diagnostic Imaging Review and practices in a radiology group at North Oaks Health System, Hammond, Louisiana. She has indicated no relationships to disclose relating to the content of this article.

CASE

A 44-year-old male presented to the radiology department for chest radiographs after being evaluated by his physician. The patient had a history of asthma, and during the physical examination, the physician had heard wheezes in the left lung base. The patient had a history of frequent sinus infections and had been treated for pneumonia several times, in childhood and in adulthood. He denied any fever but reported that he had mild shortness of breath with exertion. He also had situs inversus. Vital signs were normal, and the heart demonstrated a normal rate and rhythm. Figure 1 shows the chest radiograph, and Figure 2 shows a CT scan of the chest. What do these images reveal?

DISCUSSION

Figure 1 demonstrates a right-sided aortic arch and dextrocardia. Dilated bronchioles are visible in the left lung base medially, a finding that is compatible with bronchiectasis. Figure 2 demonstrates bronchiectasis in the left lower lobe and confirms situs inversus totalis.

These findings of bronchiectasis and situs inversus and the history of chronic sinusitis suggest that the patient has Kartagener’s syndrome.^1,2 This condition is a subset of dyskinetic cilia syndrome (DCS), also called primary ciliary dyskinesia, an autosomal recessive disorder.³ The term dyskinetic cilia syndrome replaced the name immotile cilia syndrome in 1981, as the cilia were discovered to be mobile but with uncoordinated movements.⁴ In DCS, patients have difficulty clearing mucus from the respiratory tract as a result of the abnormal ciliary movements or of abnormal structure of the cilia. In Kartagener’s syndrome, the patient has the additional finding of situs inversus. Approximately 50% of patients with DCS have situs inversus, whereas 20% of patients with situs inversus totalis have Kartagener’s syndrome.⁵ DCS is reported to occur in 1 of every 16,000 births.⁶

Cilia are found covering the nasal mucosa, middle ear, pharynx, paranasal sinuses, eustachian tubes, trachea, and bronchioles. They are also found in the brain. They are similar in structure to the flagella of sperm; therefore, patients with DCS may have infertility, headaches, or, rarely, hydrocephalus. Other symptoms include recurrent ear, sinus, and lung infections; otitis media; bronchitis; and chronic rhinorrhea. Bronchiectasis can result from recurrent pulmonary infections. Clubbing of the digits may be seen secondary to chronic hypoxia. The clinical manifestations often appear to be more severe earlier in life and become less pronounced with age. The long-term effects of ciliary dyskinesia include pneumonia, bronchiectasis, hydrocephalus, and conductive hearing loss.⁷ The differential diagnosis may include cystic fibrosis, alpha₁-antitrypsin deficiency, immunosuppression, adenoid hyperplasia, severe allergies, and bronchial obstruction.

Sinus radiographs or sinus CT may demonstrate mucosal thickening or opacified sinuses. The chest radiograph may demonstrate bronchial wall thickening, atelectasis, bronchiectasis, pulmonary hyperinflation, and situs inversus.⁸ CT of the chest may demonstrate the changes of bronchiectasis better than a chest radiograph and may be useful if DCS is suspected.

The saccharin test consists of placing a saccharin tablet in the nose and mea-suring the time it takes for the patient to report a sweet taste in the mouth. It is used infrequently because it is awkward and subject to inaccuracy. Pulmonary function studies and audiologic testing may also be useful.

Diagnosis is best made by biopsy and evaluation of the ciliary structure and movement using light microscopy and electron microscopy. Light microscopy can evaluate ciliary beat frequency, amplitude, and coordination of movement. Electron microscopy can examine for abnormalities of ciliary structure. Cilia have a central core called an axoneme. The core is made up of nine paired microtubules from which dynein arms project. These structures and their movement can be evaluated under an electron microscope to confirm the diagnosis. The specimen can be taken from a biopsy of mucous membranes. Evaluation of sperm may also prove useful in patients with a history of infertility.

Treatment generally is intended to relieve symptoms and may include antibiotics, corticosteroids, mucolytics, bronchodilators, and pulmonary toilet. Some patients may require sinus surgery or placement of tympanostomy tubes. Genetic counseling is also recommended since the syndrome is inherited. With the treatment options available for controlling the symptoms, many patients with Kartagener’s syndrome or DCS can have a normal life expectancy. JAAPA

REFERENCES

	1.	Kugler M. Kartagener syndrome. April 18, 2004. http://rarediseases.about.com/cs/kartagenersynd/a/041804.htm?p=1. Accessed August 4, 2008.
	2.	Kirks DR. Practical Pediatric Imaging: Diagnostic Radiology of Infants and Children. Boston, MA: Little, Brown and Company; 1991:622.
	3.	Blickman H. The Requisites: Pediatric Radiology. St Louis, MO: Mosby, Inc; 1998:42.
	4.	Bent JP 3rd, Olearczyk M. Kartagener syndrome. eMedicine Web site. Last updated January 3, 2007. http://www.emedicine.com/med/topic1220.htm. Accessed August 4, 2008.
	5.	Laux RA. Kartagener syndrome. 2002. http://www.healthline.com/galecontent/kartagener-syndrome. Accessed August 4, 2008.
	6.	American Lung Association. Primary ciliary dyskinesia. May 2003. http://www.lungusa.org/site/c.dvLUK9O0E/b.4061173/apps/s/content.asp?ct=3052577. Accessed August 4, 2008.
	7.	Knott L. Kartagener’s syndrome. 2008. http://www.patient.co.uk/printer.asp?doc=40001398. Accessed August 4, 2008.
	8.	McLoud TC. The Requisites: Thoracic Radiology. St Louis, MO: Mosby, Inc; 1998:394.