[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies].
A clinical report of a typical case of infantile Gaucher's disease is given. Study of the beta-glucosidase activity in leukocytes and skin fibroblasts confirmed the diagnosis in the patient and established the heterozygote condition of the parents. Two later pregnancies have been monitored by enzymatic study of cultured amniotic fluid cells. Both foetuses were predicted to be healthy, which was confirmed after birth. The report includes a histopathological ultrastructural, chemical and enzymatic study of liver, spleen and brain obtained at autopsy. Possible clues to the physiopathological mechanism of the cerebral lesion are discussed.
D000653:Amniotic Fluid / Q000201:enzymology; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002784:Cholesterol / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D005963:Glucosylceramides / Q000032:analysis; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000032:analysis / Q000473:pathology; D010743:Phospholipids / Q000032:analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013154:Spleen / Q000032:analysis / Q000473:pathology; D001617:beta-Glucosidase / Q000032:analysis
D005963:Glucosylceramides; D010743:Phospholipids; D002784:Cholesterol; D001617:beta-Glucosidase
La forme infantile de la maladie de Gaucher. Etude clinique et biologique d'une observation. Diagnostic antenatal au cours de 2 grossesses normales ulterieures.