Immotile cilia syndrome (ICS) is an autosomal recessive disease with extensive genetic heterogeneity characterized by abnormal ciliary motion and impaired mucociliary clearance. Ultrastructural and functional defects of cilia result in the lack of effective ciliary motility, causing abnormal mucociliary clearance. This leads to recurrent or persistent respiratory infections, sinusitis, otitis media, and male infertility. In 50% of the patients, ICS is associated with situs inversus. 1) The first image shows electron micrographs of nasal cilia from patients with primary ciliary dyskinesia (PCD) illustrating dynein defects. Far left panel illustrates ultrastructure of a normal cilium from nasal epithelium of a healthy, clinically unaffected subject. The adjacent panels from three different patients with PCD illustrate defects in both dynein arms, isolated defects of outer dynein arms only, and isolated defects of inner dynein arms only. 2) The 2nd image shows chest x-ray demonstrates dextrocardia, hyperinflation of the lungs and extensive linear tram-track opacities suggestive of bronchiectasis. In addition there is calcification of hilar nodes, best seen on the left. KARTAGENER SYNDROME 3) Finally, the 3rd image from a CT of the chest of the same patient whose CXR was shown in the previous image confirms the presence of extensive bronchiectasis as well as a right sided heart. KARTAGENER SYNDROME
Posted on: Wed, 02 Apr 2014 19:14:20 +0000
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