Infantile Vanishing White Matter Disease: A Case Report

Vanishing white matter disease is a progressive inherited leukodystrophy with a poor prognosis in its infantile form. We present a case that demonstrates the inverse correlation between disease severity and age of onset in a patient with an aggressive variant, resulting in rapid clinical decline. This report aims to highlight critical imaging findings that are necessary to establish a timely diagnosis and properly guide clinicians in vanishing white matter disease. Key imaging findings, differential diagnoses, and genetic abnormalities are reviewed.