Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype

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. ► VWMD is an autosomal recessive disease with significant clinical and genetic heterogeneity. ► Adrenal insufficiency is observed for the first time in association with VWMD. ► VWMD should be explored in patients with leukodystrophy and adrenal impairment.