Kartagener Syndrome (Primary Ciliary Dyskinesia) Case Report

Abstract

Kartagener syndrome is an inherited autosomal recessive disorder and low frequency. Considered a clinical variant of primary ciliary dyskinesia. It includes morphological abnormalities of cilia (dynein) manifested by defects in their ultrastructure, which triggers defects sweep ciliary function. Its clinical manifestations are recurrent infections of the upper and lower airways. Furthermore, as visceral rotation during embryonic development depends of the ciliary movement, the position of the organ is irregular, resulting dextrocardia or situs inversus totalis. 19 years old patient, with a his- tory of recurrent acute respiratory infections was admitted with productive cough in great quantity with greenish mucopurulent expectoration, dyspnea that progresses from large to medium efforts, thermal rise, palpitations, and general malaise; subsequently based on clinical evidence and image there was demonstrated the presence of bronchiectasis, chronic sinusitis and situs inversus, triad characteristic of Kartagener Syndrome. The definitive diagnosis is nasal biopsy and histopathologic study where there are alterations in its ciliary ultrastructure. Bearing in mind the history of recurrent acute respiratory infections since childhood, being observed dextrocardia and multiple bronquiectasias in the studies imagenológicos of the thorax, as well as the diagnosis of rhinosinusitis in the tomography scan of the paranasal sinuses and clinical suspicion of infertility, was reached Kartagener Syndrome diagnosis.