Background: Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity.
Case presentation: We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive dystonia, ataxia, postural instability and recurrent falls. Magnetic resonance imaging (MRI) of the brain and genetic testing confirmed the diagnosis of VWMD.
Conclusions: VWMD has a broad clinical presentation in adulthood, and the age at onset of symptoms is one of its most important prognostic factors. It is crucial to recognize the pathognomonic MRI patterns and consider VWMD as a differential diagnosis when assessing patients presenting with psychiatric, cognitive and non-specific neurological symptoms.
Keywords: Adult-onset; Cognitive; Neurological; Psychiatric; Vanishing white matter disease.