Ovarioleukodystrophy due to EIF2B5 mutations.
Pract Neurol
; 16(6): 496-499, 2016 Dec.
Article
em En
| MEDLINE
| ID: mdl-27651498
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Ovarianas
/
Fator de Iniciação 2B em Eucariotos
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Leucoencefalopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article