Teaching Neuro Images : Vanishing white matter ovarioleukodystrophy

Abstract

A 21-year-old Pakistani woman with a history of 2 seizures at 20 months of age and consanguineous parents was diagnosed with premature ovarian failure and hyperprolactinemia. Her neurologic examination was normal. Brain imaging showed confluent white matter T2/fluid-attenuated inversion recovery hyperintensities with periventricular cavitations (figure). Genetic testing showed homozygosity for a p.Lys273Arg missense mutation in the EIF2B2 gene (NM_014239.3: c.818A>G), which had previously been reported as disease-causing,1 and confirmed vanishing white matter (VWM) ovarioleukodystrophy. At 2-year follow-up, she remains neurologically asymptomatic with stable imaging. There is phenotypic variation in VWM disease and neurologic deterioration is associated with stressors (head trauma, fever).1,2