The ovarioleukodystrophy

The “ovarioleukodystrophies” comprise a group of rare leukodystrophies associated with primary or premature ovarian failure. Some of the patients have a variant of “vanishing white matter disease” with mutations in subunits of eukaryotic initiation factor 2B (EIF2B). A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His. She had a progressive disease with development of tetraparesia in less than 6 years. Our observation confirms that ovarian failure in the context of a leukodystrophy warrants mutational analysis of the genes encoding the subunits of EIF2B.