Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor

Détails

ID Serval
serval:BIB_D55BA53D78E2
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor
Périodique
Eur J Neurol
Auteur(s)
Peter L., Niel F., Catenoix H., Jung J., Demarquay G., Petiot P., Rudigoz R. C., Boespflug-Tanguy O., Ryvlin P., Mauguiere F.
ISSN
1468-1331 (Electronic)
ISSN-L
1351-5101
Statut éditorial
Publié
Date de publication
01/2008
Volume
15
Numéro
1
Pages
94-7
Langue
anglais
Notes
Peter, L
Niel, F
Catenoix, H
Jung, J
Demarquay, G
Petiot, P
Rudigoz, R C
Boespflug-Tanguy, O
Ryvlin, P
Mauguiere, F
eng
Case Reports
Research Support, Non-U.S. Gov't
England
Eur J Neurol. 2008 Jan;15(1):94-7. doi: 10.1111/j.1468-1331.2007.01999.x. Epub 2007 Nov 14.
Résumé
Mutations in the eukaryotic translation initiation factor 2B (eIF2B) represent a heterogenous group of autosomal recessive leucodystrophy characterized by a diffuse CSF-like aspect of the white matter at MRI designed as vanishing white matter (VWM) and episodes of acute deterioration after stresses. The mild juvenile and adult forms are often associated with primary ovarian failure, a syndrome referred to as ovarioleukodystrophy (OLD). We reported case of a woman with OLD who successfully underwent in vitro fertilization with donated oocytes and embryo transfer. Pregnancy was complicated by a non-convulsive epileptic status leading to the identification of compound heterozygous EIF2B5 mutation (p.Arg113His and p.Arg299His). The patient gave birth to a healthy child by Caesarean section. In conclusion, we report for the first time that in vitro fertilization and embryo transfer can lead to a successful procreation in patients with OLD related to EIF2B mutations. However this procedure must be considered with cautiousness, because of its potential neurological risks.
Mots-clé
Acute Disease, Adult, Cerebral Cortex/metabolism/pathology/physiopathology, Embryo Transfer/adverse effects, Eukaryotic Initiation Factor-2B/*genetics, Female, Fertilization in Vitro/*adverse effects, Genetic Markers/genetics, Genetic Predisposition to Disease/genetics, Hereditary Central Nervous System Demyelinating, Diseases/*genetics/*metabolism/physiopathology, Humans, Mutation/*genetics, Nerve Fibers, Myelinated/metabolism/pathology, Oocyte Donation/adverse effects, Ovarian Diseases/genetics/metabolism/physiopathology, Pregnancy, Pregnancy Complications/*physiopathology, Stress, Physiological/genetics/metabolism/physiopathology
Pubmed
Création de la notice
29/11/2018 12:37
Dernière modification de la notice
20/08/2019 15:55
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