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https://hdl.handle.net/2440/7748
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Type: | Journal article |
Title: | Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease |
Author: | Gullotta, F. Hughes, J. Wittkowski, W. Poulos, A. Strater, R. Bernheimer, H. Harzer, K. |
Citation: | Neuropediatrics: journal of pediatric neurobiology, neurology and neurosurgery, 1996; 27(1):37-41 |
Publisher: | Hippokrates Verlag |
Issue Date: | 1996 |
ISSN: | 0174-304X 1439-1899 |
Statement of Responsibility: | Gullotta F, Hughes JL, Wittkowski W, Poulos A, Sträter R, Bernheimer H, Harzer K. |
Abstract: | Two 6-year-old patients with clinical signs of leukodystrophy had no nosological diagnoses in vivo. Neuropathological studies revealed scavenger cells to be clustered in perivascular regions of the demyelinated brains. Histochemical and ultrastructural details of the non-metachromatic storage macrophages suggested lipid storage and prompted a biochemical analysis of cerebral tissue. The detection of increased amounts of very long chain fatty acids in the cholesterol ester fraction from formalin tissue in one patient was consistent with a diagnosis of an adrenoleukodystrophy-like condition, while the marked reduction in beta-galactocerebrosidase activity in a frozen brain sample of the second patient indicate Krabbe disease. The diagnostic potential of post-mortem studies in rare leukodystrophies is addressed. |
Keywords: | Corpus Callosum Astrocytes Macrophages Humans Leukodystrophy, Globoid Cell Adrenoleukodystrophy Galactosylceramidase Microscopy, Electron Child Child, Preschool Female Male |
DOI: | 10.1055/s-2007-973745 |
Published version: | http://dx.doi.org/10.1055/s-2007-973745 |
Appears in Collections: | Aurora harvest 4 Paediatrics publications |
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