Vanishing white matter disease: A diagnostic challenge on magnetic resonance imaging in a pediatric patient

Vanishing white matter disease is a rare autosomal recessive leukodystrophy characterized by progressive neurological deterioration and episodes of acute worsening triggered by minor stressors. We report the case of a 7-year-old boy presenting with transient neurological deficits following mild head trauma. Brain magnetic resonance imaging (MRI) revealed diffuse and symmetric white matter abnormalities with progressive cystic degeneration. Genetic testing identified a homozygous pathogenic variant in the EIF2B5 gene, confirming the diagnosis. Early recognition of characteristic MRI findings is crucial to guide management and avoid precipitating factors.