title: Vanishing white matter disease with mutations in EIF2B5 gene.
abstract: 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.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, 110001, India, sharma.suvasini@gmail.com.
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Mohemmed
authors.initials: M
authors.lastname: Ajij
authors.forename: Varinder
authors.initials: V
authors.lastname: Singh
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
mesh_terms: D001921:Brain / Q000473:pathology*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation
chemical_list: D020717:Eukaryotic Initiation Factor-2B