Ovarioleukodystrophy due to EIF2B5 mutations

Richard Ibitoye, S Renowden, Howard Faulkner, Neil Scolding, Claire Rice

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Abstract

Ovarioleukodystrophy – the co-occurrence of leukodystrophy and premature ovarian failure – is a rare presentation which is now recognised to be part of the clinical spectrum of vanishing white matter disease. We present the case of a lady with known seizures and neuroimaging changes consistent with leukoencephalopathy who presented with non-convulsive status epilepticus following initiation of hormone replacement therapy in the context of premature ovarian failure. Genetic testing confirmed she is a compound heterozygote for EIF2B-5 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 careful systemic review when investigating leukoencephalopathy and present a brief literature review of ovarioleukodystrophy.
Original languageEnglish
Pages (from-to)496-499
Number of pages4
JournalPractical Neurology
Volume16
Issue number6
Early online date20 Sep 2016
DOIs
Publication statusPublished - Dec 2016

Keywords

  • EIF2B
  • VWM
  • ovarioleukodystrophy
  • vanishing white matter
  • epilepsy

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