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

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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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 1/2-year-boy with acute neurological deterioration and MRI demonstrating avid contrast enhancement suggesting inflammatory demyelination in the brainstem.

Original languageEnglish (US)
Pages (from-to)32-34
Number of pages3
JournalNeuropediatrics
Volume42
Issue number1
DOIs
StatePublished - May 16 2011

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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