Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease

IntroductionVanishing White Matter disease (VWM) is a rare neurological disease, with an autosomal recessive inheritance. In this case report, we describe two four-year-old dizygotic twin brothers diagnosed with VWM with the same genotype and different phenotypes. We also describe a new likely patho...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Ellis Oron-Lexner, Bjørk Ditlev Larsen, Maria Therese Schelde-Olesen
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-08-01
Subjects:	Vanishing White Matter disease CACH VWM syndrome eukaryotic initiation factor-2B leukoencephalopathy case report phenotype
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1643040/full