To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the multicilin gene. We hypothesize that the observed phenotype may reflect the emerging role that ependymal cilia play in regulating CSF production.

Clinical and radiologic records were retrospectively reviewed for 7 consecutive patients diagnosed by the Leicester UK national primary ciliary dyskinesia (PCD) diagnostic laboratory.

On MRI scanning, all patients demonstrated hydrocephalus, choroid plexus hyperplasia (CPH), and arachnoid cysts. No patient had any sign of neurologic deficit. All patients had significant lung disease.

We conclude that there is a high incidence of hydrocephalus, arachnoid cysts, and CPH in MCIDAS-associated RGMC. In all cases, the observed hydrocephalus seems arrested in childhood without progression or adverse neurologic sequelae. Our new observation of CPH, which is associated with CSF overproduction, is the first macroscopic evidence that ependymal cilia may be involved in the regulation of CSF production and flow. We suggest that brain imaging should be performed in all cases of RGMC and that a diagnosis of PCD or RGMC be strongly considered in patients with unexplained hydrocephalus and a lifelong "wet"-sounding cough.

报告与多动纤毛 (RGMC) 生成减少和multicilin基因突变相关的神经放射学表型。我们假设观察到的表型可能反映了室管膜纤毛在调节脑脊液产生中的新兴作用。

对由英国莱斯特国家原发性纤毛运动障碍 (PCD) 诊断实验室诊断出的 7 名连续患者的临床和放射学记录进行了回顾性审查。

在 MRI 扫描中，所有患者均表现出脑积水、脉络丛增生 (CPH) 和蛛网膜囊肿。没有患者有任何神经功能缺损的迹象。所有患者都有明显的肺部疾病。

我们得出结论，在MCIDAS相关的RGMC中脑积水、蛛网膜囊肿和 CPH 的发生率很高。在所有情况下，观察到的脑积水似乎在儿童时期就停止了，没有进展或不良的神经系统后遗症。我们对与 CSF 过量产生相关的 CPH 的新观察是室管膜纤毛可能参与调节 CSF 产生和流动的第一个宏观证据。我们建议所有 RGMC 病例均应进行脑成像，对于无法解释的脑积水和终生“湿”样咳嗽的患者，强烈考虑诊断为 PCD 或 RGMC。