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COL4A1-Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings
Thkra Meshal1, Amal M Shawabka1, Kareem Lbraheem1,2
1Faculty of Medicine Palestine Polytechnic University Hebron Palestine.
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.
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