Unusual presentation of the immotile cilia syndrome in two children

Communicating Hydrocephalus in Dogs with Congenital Ciliary Dysfunction

“…Discrepant findings regarding the presence of hydrocephalus in dogs with CCD have been reported between affected littermates and there does not appear to be a correlation between age and ventricular size [11,12]. Hydrocephalus has been infrequently documented in humans with CCD [15,16,24,25]. The 4 reported cases were children with hydro cephalus (2 weeks, 3 weeks, 4 months and 5 months of age), evaluated because of increased head circumfer ence.…”

Primary Ciliary Dyskinesia as a Cause of Neonatal Respiratory Distress: Implications for the Neonatologist

“…Fewer than 30 cases of PCD diagnosed during the neonatal period have been reported. [1][2][3][4][5][6][7][8] The first case of probable Kartagener Syndrome in a neonate was reported by Nichamin 1 in 1956, prior to the description of ciliary ultrastructure by electron microscopy. He described a 33-hour-old male infant with respiratory distress and persistent purulent nasal discharge, who had situs inversus and fluctuating atelectasis on serial radiographs.…”

Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics

“…The triad of sinusitis, bronchiectasis, and situs inversus is also known as Kartagener's syndrome. Occasionally, hydrocephalus (al-Shroof et al, 2001;De Santi et al, 1990;Greenstone et al, 1984;Jabourian et al, 1986;Kosaki et al, 2004;Zammarchi et al, 1993), female infertility (Duquesnoy et al, 2009;Halbert et al, 1997;Lurie et al, 1989;McComb et al, 1986;Pedersen, 1983), otitis media (Duquesnoy et al, 2009;Duriez et al, 2007;Guichard et al, 2001;Loges et al, 2008;Mygind and Pedersen, 1983;Nastasi and Blaiss, 1994;Omran et al, 2008;Pedersen and Mygind, 1982), and retinitis pigmentosa (Moore et al, 2006;van Dorp et al, 1992;Zito et al, 2003) have also been observed in PCD patients.…”