Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2020
Historique:
received: 11 04 2020
accepted: 09 06 2020
entrez: 18 8 2020
pubmed: 18 8 2020
medline: 18 8 2020
Statut: epublish

Résumé

To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the 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

Identifiants

DOI: 10.1212/NXG.0000000000000482 PMID: 32802948 PMC: PMC7371369
pubmed: 32802948
doi: 10.1212/NXG.0000000000000482
pii: NG2020013201
pmc: PMC7371369
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e482

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Evie Alexandra Robson (EA)

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.

Luke Dixon (L)

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.

Liam Causon (L)

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.

William Dawes (W)

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.

Massimo Benenati (M)

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.

Mahmoud Fassad (M)

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.

Robert Anthony Hirst (RA)

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.

Priti Kenia (P)

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.

Eduardo Fernandez Moya (EF)

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.

Mitali Patel (M)

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.

Daniel Peckham (D)

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.

Andrew Rutman (A)

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.

Hannah M Mitchison (HM)

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.

Kshitij Mankad (K)

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.

Christopher O'Callaghan (C)

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.

Classifications MeSH