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  • Title: [Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].
    Author: Harzer K, Benz HU, Knörr-Gärtner H, Jonatha WD, Knörr K.
    Journal: Dtsch Med Wochenschr; 1976 May 21; 101(21):821-7. PubMed ID: 1269411.
    Abstract:
    Amniocentesis in the 17th week of pregnancy in a 23-year-old woman who had previously lost a child with enzymatically proven Krabbe's disease revealed normal activity in cell-free amniotic fluid. But in two amniotic cell cultures a 25% defect of cerebroside-beta-galactosidase was found. The prenatal diagnosis of Krabbe's disease was subsequently confirmed after abortion of the fetus by enzymatic and morphological examination (globoid cells in the spinal-cord sections). Prenatal diagnosis of globoid cell leukodystrophy using amniocentesis and enzyme studies of amniotic fluid cells is described. The 23-year-old patient had previously borne a child with the disorder. Amniocentesis was performed in the 17th week of pregnancy. Normal activity of cerebroside-beta-galactosidase was found in the amniotic fluid, but a 25% defect of the enzyme was found in 2 cultures of amniotic fluid cells. Diagnosis was confirmed by autopsy after the abortion of the fetus, by enzymatic tests and observation of globoid cells in the spinal cord. Enzymatic examination of amniotic fluid cells is recommended for the prenatal diagnosis of Krabbe's disease; enzyme levels in the amniotic fluid have no diagnostic value.
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