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Article

Vanishing white matter disease with mutations in EIF2B5 gene.

Indian journal of pediatrics - 1 Jan 2015

Sharma Suvasini, Ajij Mohemmed, Singh Varinder, Aneja Satinder

Abstract excerpt

An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5; confirming the diagnosis.

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Source

Identifiers

PMID: 25230711
DOI: 10.1007/s12098-014-1583-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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