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Ovarioleukodystrophy due to EIF2B5 mutations
  1. R T Ibitoye1,
  2. S A Renowden2,
  3. H J Faulkner1,
  4. N J Scolding1,
  5. C M Rice1
  1. 1Department of Neurology, Southmead Hospital, Bristol, UK
  2. 2Department of Neuroradiology, Southmead Hospital, Bristol, UK
  1. Correspondence to Dr Richard T Ibitoye, Department of Neurology, Southmead Hospital, Southmead Road, Bristol BS10 5NB, UK; richard.ibitoye{at}cantab.net

Abstract

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.

  • vanishing white matter
  • ovarioleukodystrophy
  • EPILEPSY
  • VWM
  • EIF2B

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    Phil E M Smith Geraint N Fuller