Adult-Onset White Matter Vanishing Disease With Ovarian Failure in a Salvadoran Patient

Abstract

White matter vanishing disease is a type of leukodystrophy common in children with hypomyelination linked with ataxia, all of whom have an autosomal recessive inheritance. There are few reports of late-onset cases associated with ovarian failure. In Mesoamerican populations, this disease is mostly reported in children but rarely in adults. We present a case of a 35-year-old Salvadoran female patient with a history of menometrorrhagia, infertility, slowly progressive gait decline, paraparesis, spasticity, cerebellar ataxia, cognitive impairment with predominant executive dysfunction, learning difficulties, and emotional lability. A T2-weighted brain MRI and fluid-attenuated inversion recovery (FLAIR) images showed bilateral symmetrical areas of hyperintensities in the white matter with multiple foci of cystic degeneration within the hyperintense area. Two pathogenic variants were identified in the EIF2B5 gene. This case is of interest to increase awareness of late-onset leukodystrophies, widen the phenotypic spectrum of the disease, and constitute a valuable report for the international community, since it is a less frequently reported disease.