Ovarioleukodystrophy due to EIF2B5 mutations

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 prese...

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Bibliographic Details
Published inPractical neurology Vol. 16; no. 6; pp. 496 - 499
Main Authors Ibitoye, R T, Renowden, S A, Faulkner, H J, Scolding, N J, Rice, C M
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 01.12.2016
Subjects
Adult
Ataxia
Convulsions & seizures
Epilepsy
Eukaryotic Initiation Factor-2B - genetics
Female
Hormone replacement therapy
Humans
Leukoencephalopathies - diagnosis
Leukoencephalopathies - genetics
Medical imaging
Menstruation
Mutation
Neuroimaging
Ovarian Diseases - diagnosis
Ovarian Diseases - genetics
Ovaries
Young Adult
ovarioleukodystrophy
vanishing white matter
EPILEPSY
EIF2B
VWM
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Summary: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.
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ISSN:1474-7758
1474-7766
DOI:10.1136/practneurol-2016-001382