title: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?
abstract: 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.
authors.affiliation: School of Medicine, Johns Hopkins University Baltimore, Maryland 21287, USA. kopal@jhmi.edu
authors.forename: K S
authors.initials: KS
authors.lastname: Kulkarni
authors.forename: K W
authors.initials: KW
authors.lastname: Baranano
authors.forename: D D M
authors.initials: DD
authors.lastname: Lin
authors.forename: G V
authors.initials: GV
authors.lastname: Raymond
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D003287:Contrast Media; D005682:Gadolinium; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009434:Neural Pathways / Q000473:pathology; D015211:Zellweger Syndrome / Q000175:diagnosis*
chemical_list: D003287:Contrast Media; D005682:Gadolinium