RT Journal Article SR Electronic T1 Ovarioleukodystrophy due to EIF2B5 mutations JF Practical Neurology JO Pract Neurol FD BMJ Publishing Group Ltd SP 496 OP 499 DO 10.1136/practneurol-2016-001382 VO 16 IS 6 A1 R T Ibitoye A1 S A Renowden A1 H J Faulkner A1 N J Scolding A1 C M Rice YR 2016 UL http://pn.bmj.com/content/16/6/496.abstract AB 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.