Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?

[zellweger syndrome]

Zellweger spectrum disorder , resulting from mutations in the peroxisome assembly mechanism , is genetically heterogeneous and phenotypically varied in disease characteristics and severity . In addition to manifesting gyration anomalies , affected individuals typically have white matter abnormalities ranging from hypomyelination in infancy to a more diffuse demyelinating leukoencephalopathy pattern in those surviving into childhood . Here we report a unique presentation in a 2 /-year -boy with acute neurological deterioration and MRI demonstrating avid contrast enhancement suggesting inflammatory demyelination in the brainstem .