Evidence map›Paper›PMID 34986804›Full record

ArticleBMC neurology2022

Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease.

Michelle Paff, Nardin Samuel, Noor Alsafwani, Darcia Paul, Phedias Diamandis, Seth A Climans, Walter Kucharczyk, Mandy Yi Rong Ding, Andrew F Gao, Andres M Lozano

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-weighted citation impact, top 34% 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

8 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
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  5. 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 · 2023
    Review
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  7. Review
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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

10 authors at 3 institutions in 3 countries.

Michelle Paff *Department of Neurological Surgery, University of California Irvine, Irvine, CA, USA.
Nardin Samuel *Division of Neurosurgery, Department of Surgery, University Health Network, Toronto, ON, USA. nardin.samuel@mail.utoronto.ca.
Noor AlsafwaniLaboratory Medicine Program, University Health Network, Toronto, ON, USA.
Darcia PaulDivision of Neurosurgery, Department of Surgery, University Health Network, Toronto, ON, USA.
Phedias DiamandisLaboratory Medicine Program, University Health Network, Toronto, ON, USA.
Seth A ClimansDivision of Neurology, Department of Medicine, University Health Network, Toronto, ON, USA.
Walter KucharczykJoint Department of Medical Imaging, University Health Network, University of Toronto, Toronto, ON, USA.
Mandy Yi Rong DingDivision of Neurology, Department of Medicine, University Health Network, Toronto, ON, USA.
Andrew F Gao *Laboratory Medicine Program, University Health Network, Toronto, ON, USA.
Andres M Lozano *Division of Neurosurgery, Department of Surgery, University Health Network, Toronto, ON, USA.
Health Net · USUniversity Health Network · CANeurological Surgery · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLeukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. CASE PRESENTATION: We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter.

conclusionsThese findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.

Indexed as

Central Nervous System CystsCystsLeukoencephalopathiesWhite MatterAdultCalcinosisFemaleHumansMagnetic Resonance ImagingCase reportIntracranial calcificationsIntracranial cystsLabrune syndromeLeucoencephalopathy

Identifiers

PMID34986804
PMCPMC8729138
OpenAlexW4206780328

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.