Murphy, Suzanne;
Grima, Gabriella;
Mankad, Kshitij;
Aquilina, Kristian;
(2022)
Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review.
Child's Nervous System
, 38
(3)
pp. 643-648.
10.1007/s00381-021-05208-6.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review |
| Location: | Germany |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s00381-021-05208-6 |
| Publisher version: | https://doi.org/10.1007/s00381-021-05208-6 |
| Language: | English |
| Additional information: | © 2025 Springer Nature. This article is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10214180 |
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