Adult Onset Vanishing White Matter Disease: A Rare Case Report

Vanishing white matter disease (VWMD) is the most common childhood-onset inheritable progressive leukodystrophy disorder, which exclusively affects the white matter of the brain. It shows mutations in one of the five eukaryotic translation initiation factor 2B1-5 genes following an autosomal recessive pattern, of which eIF2B5 mutation is the most frequent. These genes play a vital role in the translation and regulation of protein synthesis and mutation in them leads to a dysregulation of the cellular stress response, which in particular disrupts myelination and affects oligodendrocytes and astrocytes while sparing the neurons. Stressful situations, for example, head trauma, sudden fright, acute psychological stress, or infection, provoke severe and rapid neurological deterioration. Although it is more common in childhood, we report a case of an adult presenting with signs and symptoms of VWMD, such as abusive behavior, emotional liability, and motor incoordination. To our knowledge, this is the first case of adult-onset VWMD in Maharashtra, India, confirmed by magnetic resonance imaging (MRI) of the brain.