Contrast Enhancement of Brainstem Tracts in Zellweger Spectrum Disorder: Evidence of Inflammatory Demyelination?

K. S. Kulkarni; K. W. Baranano; D. D. M. Lin; G. V. Raymond

doi:10.1055/s-0031-1275729

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2011; 42(1): 32-34
DOI: 10.1055/s-0031-1275729

Short Communication

Contrast Enhancement of Brainstem Tracts in Zellweger Spectrum Disorder: Evidence of Inflammatory Demyelination?

K. S. Kulkarni¹ , K. W. Baranano² , D. D. M. Lin³ , G. V. Raymond²

¹School of Medicine, Johns Hopkins University Baltimore, Maryland, USA
²Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA
³Department of Radiology, Johns Hopkins Hospital, Baltimore, Maryland, USA

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.

Key words

Zellweger spectrum disorder - demyelination - MRI

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Referenzen

References

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Correspondence

Kopal S. Kulkarni

School of Medicine

Johns Hopkins University

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