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Updated: Dec 11, 2025
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation
Evie Alexandra Robson1, Luke Dixon1, Liam Causon1
1North 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.
Objective:
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.
Method:
Clinical and radiologic records were retrospectively reviewed for 7 consecutive patients diagnosed by the Leicester UK national primary ciliary dyskinesia (PCD) diagnostic laboratory.
Results:
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.
Conclusions:
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.
Insights
Reduced generation of multiple motile cilia (RGMC) is linked to hydrocephalus, arachnoid cysts, and choroid plexus hyperplasia. This suggests ependymal cilia regulate cerebrospinal fluid (CSF) production.
Area of Science:
- Neuroradiology
- Genetics
- Pulmonology
Background:
- Reduced generation of multiple motile cilia (RGMC) is a rare genetic disorder.
- Mutations in the multicilin gene are associated with RGMC.
- Ependymal cilia's role in cerebrospinal fluid (CSF) regulation is emerging.
Purpose of the Study:
- To describe the neuroradiologic phenotype in patients with RGMC and multicilin gene mutations.
- To investigate the potential role of ependymal cilia in CSF production regulation.
Main Methods:
- Retrospective review of clinical and radiologic records.
- Analysis of 7 consecutive patients diagnosed with primary ciliary dyskinesia (PCD).
Main Results:
- All patients exhibited hydrocephalus, choroid plexus hyperplasia (CPH), and arachnoid cysts on MRI.
- No neurologic deficits were observed.
- All patients had significant lung disease.
Conclusions:
- A high incidence of hydrocephalus, arachnoid cysts, and CPH is associated with MCIDAS-associated RGMC.
- Hydrocephalus appears arrested in childhood without adverse sequelae.
- CPH suggests ependymal cilia regulate CSF production and flow, supporting brain imaging in RGMC cases and considering RGMC in unexplained hydrocephalus with chronic cough.
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