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 language | English |
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Pages (from-to) | 496-499 |
Number of pages | 4 |
Journal | Practical Neurology |
Volume | 16 |
Issue number | 6 |
Early online date | 20 Sep 2016 |
DOIs | |
Publication status | Published - Dec 2016 |
Keywords
- EIF2B
- VWM
- ovarioleukodystrophy
- vanishing white matter
- epilepsy