<scp>COL4A1</scp> ‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings

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.

Authors

Institutions

Publication Details

Journal
Clinical Case Reports
Published
2025-09-24
DOI
https://doi.org/10.1002/ccr3.70964
Primary Topic
Cell Adhesion Molecules Research
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Ahmad G Hammouri, Osama Atawneh, Amal M. Shawabka, Kareem Ibraheem et al.
Clinical Case Reports
Cell Adhesion Molecules Research
article

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

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

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.

Clinical Case ReportsVol. 13(10)
Palestine Polytechnic University (PS), Al-Ahli Hospital (QA)
Openalex Percentile: Top 66%
Cell Adhesion Molecules Research
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.