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Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene

Vykuntaraju K Gowda1, Varun M Srinivasan2, Maya Bhat3

  • 1Department of pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Journal of Pediatric Neurosciences
|September 15, 2017
PubMed

Insights

A novel mutation in the EIF2B3 gene was identified in a child with progressive neurological decline after a viral illness. This finding contributes to understanding leukoencephalopathy associated with EIF2B gene mutations.

Area of Science:

  • Pediatric Neurology
  • Neurogenetics
  • Molecular Medicine

Background:

  • Leukoencephalopathies are a group of white matter disorders affecting brain development and function.
  • Mutations in the EIF2B genes are a known cause of vanishing white matter disease, a severe pediatric leukoencephalopathy.
  • Early identification and genetic diagnosis are crucial for prognosis and management.
Keywords:
Childhood ataxia with central nervous system hypomyelinationEIF2B3 gene mutationIndianleukodystrophyvanishing white matter disease

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