Download PDF
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)

    Permissions and Reprints

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

References

  • 1 Aubourg P, Scotto J, Rocchiccioli F. et al . Neonatal adrenoleukodystrophy.  J Neurol Neurosurg Psychiatry. 1986;  49 77-86
    CrossrefPubMedGoogle Scholar
  • 2 Barkovich AJ, Peck WW. MR of Zellweger syndrome.  AJNR Am J Neuroradiol. 1997;  18 1163-1170
    PubMedGoogle Scholar
  • 3 Barth PG, Gootjes J, Bode H. et al . Late onset white matter disease in peroxisome biogenesis disorder.  Neurology. 2001;  57 1949-1955
    CrossrefPubMedGoogle Scholar
  • 4 Barth PG, Majoie CB, Gootjes J. et al . Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.  Neurology. 2004;  62 439-444
    CrossrefPubMedGoogle Scholar
  • 5 Kelley RI, Datta NS, Dobyns WB. et al . Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from zellweger and related peroxisomal polydystrophy syndromes.  Am J Med Genet. 1986;  23 869-901
    CrossrefPubMedGoogle Scholar
  • 6 Melhem ER, Loes DJ, Georgiades CS. et al . X-linked adrenoleukodystrophy: The role of contrast-enhanced MR imaging in predicting disease progression.  AJNR Am J Neuroradiol. 2000;  21 839-844
    PubMedGoogle Scholar
  • 7 Moser HW. Genotype-phenotype correlations in disorders of peroxisome biogenesis.  Mol Genet Metab. 1999;  68 316-327
    CrossrefPubMedGoogle Scholar
  • 8 Powers JM, Moser HW. Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis.  Brain Pathol. 1998;  8 101-120
    PubMedGoogle Scholar
  • 9 van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders.  Neuroradiology. 1991;  33 30-37
    CrossrefPubMedGoogle Scholar
  • 10 Weller S, Gould SJ, Valle D. Peroxisome biogenesis disorders.  Annu Rev Genomics Hum Genet. 2003;  4 165-211
    CrossrefPubMedGoogle Scholar
  • 11 Weller S, Rosewich H, Gartner J. Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.  J Inherit Metab Dis. 2008;  31 270-280
    CrossrefPubMedGoogle Scholar

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

      >