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eIF2B-related multisystem disorder in two sisters with atypical presentations.

Jin Sook Lee1, Sangmoon Lee2, Murim Choi2

  • 1Department of Pediatrics, Gachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, South Korea.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|January 3, 2017
PubMed
Summary

This study identifies new EIF2B2 gene variants in vanishing white matter disease (VWM), highlighting its potential as a multisystem disorder beyond neurological symptoms. Early identification is crucial for managing this rare leukoencephalopathy.

Keywords:
AmenorrheaCataractEIF2B2LeukoencephalopathyVanishing white matter diseaseWhole-exome sequencing

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