Fetal Krabbe leukodystrophy. A morphologic study of two cases.
Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-beta-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific inclusions are probably non-glial in nature, some of them could represent myelination glia.
D000649:Amniocentesis; D000650:Amnion / Q000201:enzymology; D001921:Brain / Q000648:ultrastructure; D002478:Cells, Cultured / Q000201:enzymology; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D008297:Male; D008854:Microscopy, Electron; D010525:Peripheral Nerves / Q000648:ultrastructure; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013116:Spinal Cord / Q000648:ultrastructure