Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review

Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical implications at different ages because of their progres...

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Autores principales: Murphy, Suzanne, Grima, Gabriella, Mankad, Kshitij, Aquilina, Kristian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917029/
https://www.ncbi.nlm.nih.gov/pubmed/34018027
http://dx.doi.org/10.1007/s00381-021-05208-6
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author Murphy, Suzanne
Grima, Gabriella
Mankad, Kshitij
Aquilina, Kristian
author_facet Murphy, Suzanne
Grima, Gabriella
Mankad, Kshitij
Aquilina, Kristian
author_sort Murphy, Suzanne
collection PubMed
description Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical implications at different ages because of their progressive expansion and local mass effect. The aetiology of LCC is related to a widespread cerebral microangiopathy and is due to a genetic mutation in SNORD118, responsible for stabilisation of the large ribosomal subunit during assembly.
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spelling pubmed-89170292022-03-17 Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review Murphy, Suzanne Grima, Gabriella Mankad, Kshitij Aquilina, Kristian Childs Nerv Syst Case Report Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical implications at different ages because of their progressive expansion and local mass effect. The aetiology of LCC is related to a widespread cerebral microangiopathy and is due to a genetic mutation in SNORD118, responsible for stabilisation of the large ribosomal subunit during assembly. Springer Berlin Heidelberg 2021-05-21 2022 /pmc/articles/PMC8917029/ /pubmed/34018027 http://dx.doi.org/10.1007/s00381-021-05208-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Report
Murphy, Suzanne
Grima, Gabriella
Mankad, Kshitij
Aquilina, Kristian
Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
title Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
title_full Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
title_fullStr Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
title_full_unstemmed Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
title_short Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
title_sort paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917029/
https://www.ncbi.nlm.nih.gov/pubmed/34018027
http://dx.doi.org/10.1007/s00381-021-05208-6
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