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.

Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation

“…Another case of rapid neurological deterioration was described in a patient who had undergone in vitro fertilization and had been pregnant for 4 weeks. 27 The important physical and psychological changes occurring in the first trimester as well as in the last weeks of gestation, especially the labor, may be considered potentially stressful events. 27 Both the case reported by Peter et al 27 and our case had a history of leukoencephalopathy and premature ovarian failure when the acute neurological deterioration occurred during pregnancy, suggesting the diagnosis of VWM.…”