ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2022
Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- The first reported case of Labrune syndrome in Vietnam with 4-year longitudinal follow-up: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Leukoencephalopathy with calcifications and cysts: A case report with literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Leukoencephalopathy, calcifications, and cysts: Labrune syndrome.Radiology case reports · 2023Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.