Distinctive Cerebellar MRI Signature Identified in VPS11-Related Hypomyelinating Leukodystrophy

A distinctive cerebellar MRI signature—focal absence of cortex in middle-anterior hemispheres—was present in all 6 VPS11-related hypomyelinating leukodystrophy patients and absent in 21 other HLDs (p<.001).

• All six patients also showed diffuse hypomyelination, a PVL-like pattern, short corpus callosum with marked thinning of the posterior portion, hypoplasia of the anterior commissure, and mild pontine volume reduction.
• Inter-rater agreement for MRI feature assessment between two pediatric neuroradiologists was high.

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