Original ArticleCiliary Dyskinesia Associated With Hydrocephalus and Mental Retardation in a Jordanian Family
Section snippets
PATIENTS AND METHODS
This report concerns a large family that lived in refugee camps in Jordan. The parents (II-5 and II-6 in Figure 1) of the 4 affected siblings were first-degree cousins and had 15 offspring: 10 males and 5 females (Figure 1). The father (II-6), a long-term smoker, had chronic obstructive pulmonary disease. The mother (II-5) had bronchial asthma and nasal polyposis. Three children (III-4, III-12, and III-15), 2 females and 1 male, died at the ages of 2 months, 2 years, and 2 years, respectively,
DISCUSSION
Some of the important systemic causes of recurrent pulmonary infections such as immunodeficiency and cystic fibrosis4, 5 were ruled out in the affected individuals in generation III of this family. In the early 1970s, a congenital defect of the respiratory cilia was recognized as a cause of recurrent sinopulmonary infections in patients with Kartagener syndrome.2, 3, 6, 7 The patients described herein showed the absence of dynein arms in some cilia8, 9, 10 and disorientation of the central
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71 - Primary Ciliary Dyskinesia
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2017, Journal of the Neurological SciencesCitation Excerpt :In 2009, Hirst et al. found that in vitro brain exposure to hydrogen peroxide (3% w/v) disrupts normal ependymal ciliary beat frequency and damages ependymal structure [147]. A number of studies have indicated that ependymal cilia overlie the cerebral ventricles that regulate the normal CSF microcirculation [148–150]. Based on this, our team proposed that oxidative stress-mediated ciliary dysfunction might be involved in hydrocephalus development following IVH.
A balanced view of the cerebrospinal fluid composition and functions: Focus on adult humans
2015, Experimental NeurologyCitation Excerpt :PCD-associated abnormal ciliary motion is either absent, hypoactive or reversed. PCD is the hallmark of many mouse ependymal ciliary defect models (Lee, 2013), but this Kartagener syndrome with hydrocephalus is rare in humans, i.e. ~ 1/30,000 (Berlucchi et al., 2012; Bush, 2000; al-Shroof et al., 2001). The hpy mouse model of post-natal hydrocephalus, like human PCD, has an ependymal dynein-deficiency frequency of ~ 35%; and advantageously (experimentally) lacks the respiratory ciliary problems (moving mucus) that attend Kartagener syndrome.