Robson Evie Alexandra, Dixon Luke, Causon Liam, Dawes William, Benenati Massimo, Fassad Mahmoud, Hirst Robert Anthony, Kenia Priti, Moya Eduardo Fernandez, Patel Mitali, Peckham Daniel, Rutman Andrew, Mitchison Hannah M, Mankad Kshitij, O'Callaghan Christopher
North of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.
Neurol Genet. 2020 Jul 13;6(4):e482. doi: 10.1212/NXG.0000000000000482. eCollection 2020 Aug.
To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the 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 -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.
报告一种与多根活动纤毛生成减少（RGMC）及该基因中的突变相关的神经放射学表型。我们推测所观察到的表型可能反映了室管膜纤毛在调节脑脊液生成中所起的新作用。
对由英国莱斯特国家原发性纤毛运动障碍（PCD）诊断实验室确诊的7例连续患者的临床和放射学记录进行回顾性分析。
在MRI扫描中，所有患者均表现为脑积水、脉络丛增生（CPH）和蛛网膜囊肿。无患者有任何神经功能缺损迹象。所有患者均有严重肺部疾病。
我们得出结论，在与RGMC相关的疾病中脑积水、蛛网膜囊肿和CPH的发生率很高。在所有病例中，所观察到的脑积水在儿童期似乎停止发展，无进展或不良神经后遗症。我们对与脑脊液生成过多相关的CPH的新观察结果，是室管膜纤毛可能参与脑脊液生成和流动调节的首个宏观证据。我们建议对所有RGMC病例均应进行脑部成像检查，对于原因不明的脑积水和终生有“湿性”咳嗽的患者应强烈考虑诊断为PCD或RGMC。
