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Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report
Mariana Escobar-Pacheco1, Mariana Luna-Álvarez1,2, David Dávila-Ortiz de Montellano1
1Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Mexico City, MEX.
Cureus
|August 14, 2024
Summary
Ovarioleukodystrophy, a rare vanishing white matter disease subtype, involves central nervous system white matter and ovarian dysfunction. Genetic variants in the eukaryotic translation initiation factor 2B (EIF2B) complex are implicated, with missense mutations common in EIF2B4 and EIF2B5.
Area of Science:
- Neuroscience
- Genetics
- Reproductive Medicine
Background:
- Leukodystrophies are genetic white matter disorders affecting the CNS.
- Vanishing white matter disease (VWMD) is a progressive form.
- Ovarioleukodystrophy, a VWMD subtype, presents with CNS and ovarian issues.
Purpose of the Study:
- Systematically review ovarioleukodystrophy cases linked to EIF2B1-5 gene variants.
- Include a newly identified case from Mexico.
- Analyze genotype-phenotype correlations and diagnostic approaches.
Main Methods:
- Systematic review following PRISMA guidelines.
- Searched PUBMED, SCOPUS, and PMC databases.
- Included 14 reports with ovarian, neuroimaging, and molecular data.
Main Results:
- Identified 20 cases worldwide, median age of onset 19 years.
- Common features: white matter changes, ovarian abnormalities, neurological deficits.
- Predominant mutations: missense variants in EIF2B4 and EIF2B5 genes.
Conclusions:
- Ovarioleukodystrophy is ultra-rare with diverse clinical and ovarian manifestations.
- Gynecological evaluation is vital, as ovarian symptoms may precede neurological ones.
- MRI is crucial for diagnosis; collaborative research is needed for management and therapy.
