@article{Ibitoye:2016:10.1136/practneurol-2016-001382,
author = {Ibitoye, RT and Renowden, SA and Faulkner, HJ and Scolding, NJ and Rice, CM},
doi = {10.1136/practneurol-2016-001382},
journal = {Pract Neurol},
pages = {496--499},
title = {Ovarioleukodystrophy due to EIF2B5 mutations.},
url = {http://dx.doi.org/10.1136/practneurol-2016-001382},
volume = {16},
year = {2016}
}

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TY  - JOUR
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.
AU  - Ibitoye,RT
AU  - Renowden,SA
AU  - Faulkner,HJ
AU  - Scolding,NJ
AU  - Rice,CM
DO  - 10.1136/practneurol-2016-001382
EP  - 499
PY  - 2016///
SP  - 496
TI  - Ovarioleukodystrophy due to EIF2B5 mutations.
T2  - Pract Neurol
UR  - http://dx.doi.org/10.1136/practneurol-2016-001382
UR  - https://www.ncbi.nlm.nih.gov/pubmed/27651498
VL  - 16
ER  - 

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