Epilepsy and ovarian failure: Two cases of adolescent-onset ovarioleukodystrophy

Publication date: Available online 5 January 2018
Source:Clinical Neurology and Neurosurgery
Author(s): Herrera-García José David, Guillen-Martínez Virginia, Creus-Fernández Carlota, Mínguez-Castellanos Adolfo, Carnero Pardo Cristóbal
Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres. In both patients we found the c.1117C>T (p.Arg373Cys) mutation in homozygosis in the EIF2B4 gen.



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