Clınıcal And Cytogenetıc Evaluatıon Of Three Patıents Wıth Swyer-James Syndrome

Abstract

Swyer-James syndrome (SJS) is a rare disorder characterized radiologically by a unilateral hyperlucent lung. Although respiratory tract infections play an important role in the development of SJS, some cases have no documented history of repeated episodes of childhood respiratory infection. It has been suggested that some congenital factor(s) may contribute to the development of SJS. The purpose of this study was to investigate clinical and cytogenetic features of three patients with this syndrome. Diagnosis of SJS was first suspected based on admission chest radiographs. Chest computed tomography, ventilation-perfusion lung scintigraphy and pulmonary magnetic resonance angiography confirmed the diagnosis. Bronchiectases were revealed on the affected sides of all patients. In addition, two of them had asthma, and one patient had cor pulmonale. There was no bronchoscopic evidence of benign or malignant endobronchial obstruction. Bronchial mucosa cells (BMC) and peripheral blood lymphocytes(PBL) cultures were obtained from all patients. Cytogenetic analyses of these samples revealed normal karyotype in two patients. Due to bronchial candidiasis, cytogenetic analysis of BMC could not be performed in the remaining patient;however, his culture of PBL demonstrated a normal karyotype. In conclusion, other pulmonary disorders such as asthma, bronchiectasis, and fungal infection of the respiratory tract can be demonstrated in conjuction with the SJS. Although, normal karyotypes were demonstrated in our patients, further cytogenetic studies are needed to elucidate the molecular basis of SJS.