PT  - JOURNAL ARTICLE
AU  - R T Ibitoye
AU  - S A Renowden
AU  - H J Faulkner
AU  - N J Scolding
AU  - C M Rice
TI  - Ovarioleukodystrophy due to <em>EIF2B5</em> mutations
AID  - 10.1136/practneurol-2016-001382
DP  - 2016 Dec 01
TA  - Practical Neurology
PG  - 496--499
VI  - 16
IP  - 6
4099  - http://pn.bmj.com/content/16/6/496.short
4100  - http://pn.bmj.com/content/16/6/496.full
SO  - Pract Neurol2016 Dec 01; 16
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.