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
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Contributors RTI wrote the first drafts of the manuscript and revised the manuscript for submission for publication. CMR and NJS were lead clinicians for the patient, and reviewed and revised the manuscript versions. SAR provided expert commentary on the radiology including the figure descriptions. HJF provided epilepsy subspecialty input in the case and revised the case history.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned. Externally peer reviewed. This paper was reviewed by Rajith de Silva, Essex, UK.