Teaching NeuroImages: Adult-onset vanishing white matter disease

Abstract

An 18-year-old woman with premature ovarian failure presented with focal motor seizures with secondary generalization and headache 2 weeks after a viral infection. She also had a recent psychological stress background. Examination only revealed generalized hyperreflexia. Neuroimaging studies showed bilateral confluent leukoencephalopathy and periventricular cystic degeneration (figure). Genetic testing showed homozygosity for a p.Arg113His missense mutation in the EIF2B5 gene, confirming the diagnosis of VWM. Phenotypic variation of VWM is extremely wide, with episodes of sudden major neurologic degeneration triggered by febrile infections, minor head trauma, or stressful events. 1 MRI findings are usually diagnostic and associated with mutations in EIF2B1-5 genes.