Sx kartagene

International Journal of General Medicine
Open Access Full Text Article

Dovepress
open access to scientific and medical research

C A S e r e P O rT

Kartagener syndrome

This article was published in the following Dove Press journal: International Journal of General Medicine 11 January 2011 Number of times this article has been viewed

Nedaa Skeik 1–3 Fadi I Jabr 4
Mayo Clinic,rochester, MN, USA; Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4 Horizon Medical Center, Hospital Medicine, Dickson, TN, USA
1 2

Abstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present withchronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-oldwoman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure. Keywords: chronic obstructive pulmonary disease, bronchiectasis,immotile cilia syndrome, situs inversus

Case report
A 66-year-old woman with a past medical history of chronic recurrent rhinosinusitis, otitis media, hearing loss, recurrent pseudomonal pneumonia, and bronchiectasis presented to our hospital with a few days’ history of fever, productive cough with greenish phlegm, and significant shortness of breath despite being on home oxygen. She deniedchest pain, nausea, vomiting, diarrhea, urinary symptoms, or headache. She was unemployed and denied any history of tobacco abuse. She had a sister who died of chronic progressive lung disease in her fiftieth decade. Her vital signs were: respiratory rate, 26; oxygen saturation, 91% on 5 L of oxygen; blood pressure, 103/60; and temperature, 97.3 F. A physical exam revealed a frail woman in moderaterespiratory distress with diffuse rhonchi and diminished air movement in both lungs. Heart sounds were more pronounced at the right sternal border. Other physical exam findings were unremarkable. Her laboratory work-up was unremarkable except for mild leukocytosis and hypoxia. A chest X-ray revealed old bronchiectatic areas at the bases with air-fluid levels and new consolidation in the left mid andupper lung zones (Figure 1). The X-ray also revealed dextrocardia and right-sided stomach air confirming a case of situs inversus. She was treated with intravenous cefepime and piperacillin/tazobactam, oral steroids, and bronchodilators with chest physiotherapy. Since she did not improve with this management, bronchoscopy was performed. Alveolar lavage was negative for malignancy, but culturerevealed positive results for Pseudomonas aeruginosa.

Correspondence: Nedaa Skeik Vascular Medicine Department, Mayo Clinic, 200 First Street SW, rochester, MN 55905, USA Tel +1 507 266 6111 Fax +1 507 266 1617 email skeik.nedaa@mayo.edu

submit your manuscript | www.dovepress.com

Dovepress
DOI: 10.2147/IJGM.S16181

International Journal of General Medicine 2011:4 41–43 © 2011 Skeik andJabr, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.

41

Skeik and Jabr

Dovepress

Figure 1 Bronchiectatic areas at the bases with air–fluid levels and new consolidation in left mid and upper lung zones. Dextrocardia and right-sided stomach air confirm a case of...