Ovarioleukodystrophy due to EIF2B5 mutations

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.