Krabbe's disease in an infant and her fetal sibling. A case report.
Degenerative diseases of the cerebral white matter are rare, but have severe consequences. The diagnosis of one such disorder, Krabbe's disease, may be made by biochemical analysis of cultured fibroblasts. As the disease is inherited as an autosomal recessive trait, there is a high risk of affected children being born to a heterozygote couple. A description is given of an infant with Krabbe's disease and of the monitoring of the mother's second pregnancy in which an affected fetus was found.
D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005347:Fibroblasts / Q000032:analysis; D005696:Galactosidases / Q000032:analysis; D005699:Galactosylceramides / Q000032:analysis; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D007223:Infant; D007790:Lactosylceramides / Q000032:analysis; D007965:Leukodystrophy, Globoid Cell / Q000151:congenital / Q000175:diagnosis*; D011247:Pregnancy
D005699:Galactosylceramides; D007790:Lactosylceramides; D005696:Galactosidases; D006596:Hexosaminidases