Evidence map›Paper›PMID 41001161›Full record

ArticleClinical case reports2025

COL4A1-Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings.

Thkra Meshal, Amal M Shawabka, Kareem Lbraheem, Rosol Iwaiwi, Nissreen E Thafer, Jinan H Afana, Ahmad G Hammouri, Osama Atawneh

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2025. 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
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.

  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

8 authors.

Thkra MeshalFaculty of Medicine Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0003-2027-1414
Amal M ShawabkaFaculty of Medicine Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0000-0003-3125-5965
Kareem LbraheemFaculty of Medicine Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0007-1852-6819
Rosol IwaiwiFaculty of Medicine Palestine Polytechnic University Hebron Palestine.
Nissreen E ThaferFaculty of Medicine Palestine Polytechnic University Hebron Palestine.
Jinan H AfanaFaculty of Medicine Palestine Polytechnic University Hebron Palestine.
Ahmad G HammouriRadiology Department Al-Ahli Hospital Hebron Palestine.ORCID https://orcid.org/0000-0003-2919-4980
Osama AtawnehFaculty of Medicine Palestine Polytechnic University Hebron Palestine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report two Palestinian siblings with a pathogenic COL4A1 mutation, presenting with congenital cataracts, seizures, developmental delay, and antenatal intracerebral hemorrhages. Despite sharing the same genetic variant, they exhibited striking phenotypic variability. This case underscores the importance of recognizing COL4A1-related manifestations-including neurological and ophthalmological features-for timely diagnosis and genetic counseling in familial small vessel disease.

Indexed as

case reportcerebral small vessel diseaseCOL4A1 geneleukoencephalopathymicroangiopathypediatrics neurology

Identifiers

PMID41001161
PMCPMC12458909

What Socratic holds

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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 Socratic graph.