al-Shroof M, Karnik A M, Karnik A A, Longshore J, Sliman N A, Khan F A
Houston Medical Center, Warner Robins, GA 11554, USA.
Mayo Clin Proc. 2001 Dec;76(12):1219-24. doi: 10.4065/76.12.1219.
To describe the presentation and genetic transmission of ciliary dyskinesia syndrome associated with hydrocephalus and mental retardation in 3 generations of a family.
A large Jordanian family included 9 individuals in 3 generations with recurrent pulmonary infections; 4 male siblings have been diagnosed as having mental retardation, and a maternal uncle was believed to have been similarly affected. Chromosome analysis of the family showed a normal karyotype.
Electron microscopy of the nasal cilia from 3 affected siblings showed features of primary ciliary dyskinesia. Computed tomographic scans of the brains of all 4 affected siblings showed hydrocephalus.
The recurrent pulmonary infections and hydrocephalus in this large Jordanian family are likely related to ciliary dyskinesia, which appears to follow an autosomal recessive mode of inheritance. The unusual presentation of ciliary dyskinesia, hydrocephalus, and mental retardation may be due to a new genetic mutation.
描述一个家族三代人中与脑积水和智力发育迟缓相关的纤毛运动障碍综合征的临床表现及遗传传递情况。
一个约旦大家族包括三代9名个体，均有反复肺部感染；4名男性同胞被诊断为智力发育迟缓，且一名舅舅也被认为有类似情况。对该家族进行染色体分析，核型正常。
对3名患病同胞的鼻纤毛进行电子显微镜检查显示有原发性纤毛运动障碍的特征。对所有4名患病同胞的脑部进行计算机断层扫描显示有脑积水。
这个约旦大家族中反复出现的肺部感染和脑积水可能与纤毛运动障碍有关，纤毛运动障碍似乎遵循常染色体隐性遗传模式。纤毛运动障碍、脑积水和智力发育迟缓这种不寻常的表现可能是由于一种新的基因突变。
