What does an MRI show for vanishing white matter disease?

Magnetic Resonance Imaging (MRI) is a crucial diagnostic tool in identifying Vanishing White Matter (VWM) disease. Characteristic findings include a well-defined leukodystrophy evidenced by hyperintense signals in the white matter on T2-weighted images and FLAIR (Fluid Attenuated Inversion Recovery) sequences. MRI may reveal areas of white matter degeneration that appear cystic or rarefied, indicating the progressive loss of myelin. Typically, the white matter shows signs of signal intensity reversal, with fluid replacement replacing normal tissue as the disease progresses. It is essential to note that interpreting these findings can be challenging, particularly in infants because of their developing brains, which may result in misdiagnosis. Thus, follow-up imaging may be necessary to monitor changes over time and assist in confirming the diagnosis.

Leukoencephalopathy with vanishing white matter - Wikipedia