Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Gene. 2012 Apr 1;496(2):141-3. doi: 10.1016/j.gene.2011.12.047. Epub 2012 Jan 17.
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.
脑白质消融症（VWMD）是一种常染色体隐性遗传病，其特征是脑白质进行性退化。虽然临床表现多变已有相关记载，但目前尚无肾上腺皮质功能不全的报告。我们描述了一例 VWMD 沙特女孩，其非典型表型提示肾上腺脑白质营养不良。这使得诊断变得复杂，直到进行基因杂合性分析发现 EIF2B2 中的一个新突变。本报告拓宽了 VWMD 的临床谱，并提示与肾上腺皮质功能不全存在等位基因特异性关联的可能性。
