Volume 4 Supplement 1
P59 - Kartagener syndrome in infant – case report
© Hristova et al; licensee BioMed Central Ltd. 2014
Published: 28 February 2014
Kartagener syndrome (situs inversus, sinusitis and bronchiectasis) is a rare, ciliopathic, autosomal recessive disorder that causes a defect in the action of the cilia lining the respiratory tract. Situs inversus can be seen in about 50% of cases.
We present a case of a 10-months-old girl with total situs inversus, diagnosed at birth and recurrent respiratory tract infections. The child was with repeated admissions since 5 months age. The suspicion for Kartagener's syndrome was made based on clinical presentation and radioimaging. Nasal brushing as least invasive enables observation of ciliary structures in electron microscopy. The results revealed an anomaly in the organization of the ciliary microtubules. An early diagnosis and treatment may prevent the development of bronchiectasis, which define the prognosis.
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.