Abstract
Krabbe's globoid cell leukodystrophy is a rare hereditary progressive neurological disease of infants, in which there is deficient activity of galactosylceramide beta-galactosidase. The pathological hallmark is the presence of multinucleated globoid cells in the white matter associated with severe myelin depletion and gliosis. We report a second case where galactosylceramide beta-galactosidase deficiency was proven but no globoid cells were found in the brain. Symptoms began within the first 10 months of life and a deficiency of galactosylceramide beta-galactosidase activity was demonstrated in peripheral blood leukocytes and skin fibroblasts. The child survived till 8 yrs 7 mths. The reason for the absence of globoid cells is not clear but may be related to different effects of the gene mutation on the four substrates or possibly the interaction of sphingolipid activator protein-2.
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