title: Ovarioleukodystrophy due to EIF2B5 mutations.
abstract: Ovarioleukodystrophy-the co-occurrence of leukodystrophy and premature ovarian failure-is a rare presentation now recognised to be part of the clinical spectrum of vanishing white matter disease. We describe a woman with epilepsy and neuroimaging changes consistent with leukoencephalopathy who presented with non-convulsive status epilepticus after starting hormone replacement therapy in the context of premature ovarian failure. Genetic testing confirmed her to be a compound heterozygote for EIF2B5 mutations; the gene encodes a subunit of eukaryotic translation initiation factor 2B. Mutations in EIF2B1-5 result in vanishing white matter disease. We highlight the importance of ovarian failure as a diagnostic pointer to eukaryotic translation initiation factor 2B (eIF2B)-related ovarioleukodystrophy and present a brief literature review of ovarioleukodystrophy.
authors.affiliation: Department of Neurology, Southmead Hospital, Bristol, UK.
authors.forename: R T
authors.identifier: http://orcid.org/0000-0001-8218-3821
authors.initials: RT
authors.lastname: Ibitoye
authors.affiliation: Department of Neuroradiology, Southmead Hospital, Bristol, UK.
authors.forename: S A
authors.initials: SA
authors.lastname: Renowden
authors.affiliation: Department of Neurology, Southmead Hospital, Bristol, UK.
authors.forename: H J
authors.initials: HJ
authors.lastname: Faulkner
authors.affiliation: Department of Neurology, Southmead Hospital, Bristol, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Scolding
authors.affiliation: Department of Neurology, Southmead Hospital, Bristol, UK.
authors.forename: C M
authors.initials: CM
authors.lastname: Rice
mesh_terms: D000328:Adult; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010049:Ovarian Diseases / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: C000624288:EIF2B5 protein, human; D020717:Eukaryotic Initiation Factor-2B
keywords: EIF2B; EPILEPSY; VWM; ovarioleukodystrophy; vanishing white matter