title: Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.
abstract: 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.
authors.affiliation: CHU de Lyon, Service d'Epileptologie, Hôpital Neurologique, Lyon Cedex 3, France. laure.peter@wanadoo.fr
authors.forename: L
authors.initials: L
authors.lastname: Peter
authors.forename: F
authors.initials: F
authors.lastname: Niel
authors.forename: H
authors.initials: H
authors.lastname: Catenoix
authors.forename: J
authors.initials: J
authors.lastname: Jung
authors.forename: G
authors.initials: G
authors.lastname: Demarquay
authors.forename: P
authors.initials: P
authors.lastname: Petiot
authors.forename: R C
authors.initials: RC
authors.lastname: Rudigoz
authors.forename: O
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: P
authors.initials: P
authors.lastname: Ryvlin
authors.forename: F
authors.initials: F
authors.lastname: Mauguière
mesh_terms: D000208:Acute Disease; D000328:Adult; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004624:Embryo Transfer / Q000009:adverse effects; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology; D018587:Oocyte Donation / Q000009:adverse effects; D010049:Ovarian Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology*; D013312:Stress, Physiological / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: D020717:Eukaryotic Initiation Factor-2B; D005819:Genetic Markers