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

© Georg Thieme Verlag KG Stuttgart · New York

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
Further Information

Publication History

received 27.09.2010

accepted 14.03.2011

Publication Date:
09 May 2011 (online)

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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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Correspondence

Kopal S. Kulkarni

School of Medicine

Johns Hopkins University

600 North Wolfe Street

Baltimore

Maryland 21287

USA

Phone: + 1/814/574 2001

Fax: +1/410/955 0962▪

Email: kopal@jhmi.edu