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Related Experiment Videos

A case of Krabbe's leukodystrophy without globoid cells.

P McKelvie1, P Vine, I Hopkins

  • 1Department of Pathology, University of Melbourne, Parkville, Vic.

Pathology
|October 1, 1990
PubMed
Summary

Krabbe disease, a rare neurological disorder, typically shows globoid cells. This case study presents a rare instance of galactosylceramide beta-galactosidase deficiency without these characteristic cells.

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Krabbe's globoid cell leukodystrophy is a rare, inherited, progressive neurological disorder in infants.
  • It is characterized by deficient activity of galactosylceramide beta-galactosidase.
  • The hallmark pathology includes globoid cells in white matter with myelin loss and gliosis.

Observation:

  • This report details a second case of galactosylceramide beta-galactosidase deficiency.
  • In this case, the characteristic globoid cells were notably absent in the brain.
  • Symptoms appeared within the first 10 months of life, with enzyme deficiency confirmed in leukocytes and fibroblasts.

Findings:

  • Galactosylceramide beta-galactosidase deficiency was confirmed through biochemical assays.

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  • Despite the enzyme deficiency, the typical pathological hallmark of globoid cells was not observed.
  • The patient survived until 8 years and 7 months of age.

    • Implications:

    • The absence of globoid cells in this case suggests variability in Krabbe disease presentation.
    • Potential reasons for this atypical presentation may involve differential gene mutation effects on enzyme substrates.
    • Interactions with sphingolipid activator protein-2 could also influence the pathological manifestation.