ArticleRadiology case reports2023
Leukoencephalopathy, calcifications, and cysts: Labrune syndrome.
Article in Radiology case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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.
The trial behind it
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.Rare (Amsterdam, Netherlands) · 2025Article
- Labrune Syndrome: A Rare Leukodystrophy.Cureus · 2023Article
- Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- Genetic Disorders That Confer Risk for the Development of Psychosis and White Matter Hyperintensities on T2-weighted Imaging: A Practical Guide for Psychiatrists.Innovations in clinical neuroscienceReview
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Labrune syndrome is an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and cysts. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis. The mutation results selectively in cerebral microangiopathy through an unknown mechanism. Radiological imaging is central to diagnosing the condition, but, because the condition is so rare, there is no standard treatment paradigm. We describe the longitudinal progression of a case of Labrune syndrome, including the radiological diagnosis and imaging and surgical management.
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Registered trials
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.