title: Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
abstract: Vanishing white matter disease (VWMD) is an autosomal recessive disorder characterized by progressive degeneration of the white matter. While variable clinical presentation is well documented, there are no reports of adrenal insufficiency. We describe a young Saudi girl with VWMD whose atypical phenotype suggested adrenoleukodystrophy. This complicated the diagnostic workup until homozygosity scan revealed a novel mutation in EIF2B2.This report widens the clinical spectrum of VWMD and raises the possibility of an allele-specific association with adrenal insufficiency.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Alsalem
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000309:Adrenal Insufficiency / Q000378:metabolism; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008958:Models, Molecular; D008968:Molecular Conformation; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: D020717:Eukaryotic Initiation Factor-2B