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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
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.
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.
- 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.