Evidence map›Paper›PMID 37346205›Full record

ArticleCureus2023

Labrune Syndrome: A Rare Leukodystrophy.

Jishnu Nair, Sai Sriram Swamiyappan, Rav Tej Bathala, Jayesh Gupta, Kapil D Nayar, Balasubramaniam D

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 76% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Jishnu NairNeurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Sai Sriram SwamiyappanNeurosurgery, Sri Ramachandra Institute of Higher Education and Research, chennai, IND.
Rav Tej BathalaNeurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Jayesh GuptaNeurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Kapil D NayarInternal Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Balasubramaniam DNeurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Sri Ramachandra Institute of Higher Education and Research · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Labrune syndrome is a rare neurological disorder, with less than 100 reported cases since its identification. This disorder causes progressive cerebral degeneration. This case report describes a 21-year-old male patient who presented with tonic-clonic seizures. Upon examination, he was found to have symmetrical dense calcifications in the bilateral basal ganglia, thalami, and dentate nuclei, as well as in the white matter of both hemispheres, accompanied by cysts. MRI brain revealed confluent areas of T2/FLAIR hyperintensities involving the deep periventricular white matter in both cerebral hemispheres with sparing of subcortical U-fibres and two cysts in the left frontal and right posterior temporal region. No serologic evidence of a parasitic infection was found. Treatment was directed at addressing symptoms, and surgery was not required as the cysts were not causing a mass effect. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis.

Indexed as

cerebral calcificationscystslabrune syndromeleukodystrophysnord118 gene mutation

Identifiers

PMID37346205
PMCPMC10280778
OpenAlexW4377193182

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.