Article Text
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
Statistics from Altmetric.com
Linked Articles
- Editors' commentary
Read the full text or download the PDF:
Other content recommended for you
- Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
- Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene
- A practical approach to diagnosing adult onset leukodystrophies
- 096 A 47-year old female with slowly progressive cognitive impairment and motor decline
- Galactosaemia occurring in association with primary ovarian insufficiency, Addison’s disease and chronic myeloid leukaemia
- Non-convulsive status epilepticus causing focal neurological deficits in CADASIL
- Non-convulsive status epilepticus causing focal neurological deficits in CADASIL
- Age-related cerebral white matter disease (leukoaraiosis): a review
- 7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL
- Non-convulsive status epilepticus causing focal neurological deficits in CADASIL