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Related Experiment Videos

Fetal Krabbe leukodystrophy. A morphologic study of two cases

J J Martin, J G Leroy, C Ceuterick

    Acta Neuropathologica
    |January 1, 1981
    PubMed
    Summary

    Prenatal diagnosis of Krabbe disease was confirmed in two fetuses using enzyme activity tests and microscopy. Findings revealed characteristic globoid cells in the nervous system, aiding understanding of fetal Krabbe disease morphology.

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    Neurology·2003

    Area of Science:

    • Medical Genetics
    • Neurology
    • Developmental Biology

    Background:

    • Krabbe disease is a severe, inherited lysosomal storage disorder.
    • Deficiency in galactosylceramide-beta-galactosidase activity leads to toxic globoid cell accumulation.
    • Previous cases highlight the importance of early diagnosis and understanding disease progression.

    Purpose of the Study:

    • To report two new prenatal cases of Krabbe disease in a family.
    • To characterize the morphological and enzymatic findings in affected fetuses.
    • To contribute to the understanding of Krabbe disease in early development.

    Main Methods:

    • Prenatal diagnosis via enzyme assay of cultured amniotic cells.
    • Enzymatic confirmation in cultured fibroblasts and fetal tissues.

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  • Light and electron microscopy of fetal nervous system tissues.

    • Main Results:

    • Virtually absent galactosylceramide-beta-galactosidase activity in amniotic cells.
    • Presence of typical globoid cells in the white matter of the spinal cord in both fetuses.
    • Specific inclusions observed in the brain stem and peripheral nerves of one fetus.

    Conclusions:

    • Prenatal diagnosis of Krabbe disease is feasible and accurate.
    • Morphological abnormalities, including globoid cells, are expected in actively myelinating areas of the fetal nervous system.
    • Findings suggest potential glial involvement in Krabbe disease pathogenesis.