IMMOTILE CILIA SYNDROME: RADIAL SPOKES DEFICIENCY IN A PATIENT WITH KARTAGENER'S TRIAD

Abstract

ABSTRACT. Antonelli, Mm., Modesti, A., De Angelis, M., Marcolini, P., Lucarelli, N. and Crifo, S. (Department of Paediatrics and Cystic Fibrosis Centre, Department of Audiology and Department of Pathology, University of Rome, Italy). Immotile cilia syndrome: radial spokes deficiency in a patient with Kartagener's triad, Acta Paediatr Scand, 70:571,.–Mucociliary transport and ultrastructure of nasal cilia in a 13 year old boy with Kartagener's triad, were investigated. Mucociliary transport was significantly delayed (>30 minutes). Electron microscopy showed cilia lacking radial spokes, eccentric central tubules, and a dislocation of one the outer doublets. Dynein arms were present. We consider the radial spoke defect as a distinct congenital anomaly which contributes to the pathogenesis of the “immotile cilia syndrome”.