title: Prenatal diagnosis of congenital sialidosis.
abstract: A case of prenatally diagnosed congenital sialidosis is described in a 21-week-old male fetus, which was the fifth product of non-consanguineous parents. The proband, the second product, was diagnosed as having sialidosis by the enzyme assay in peripheral leukocytes after birth. At the 17th week of pregnancy, the fetus at risk was proven to have isolated sialidase deficiency after analyzing a sample of the cultured amniotic fluid cells. There were many cytoplasmic vacuoles and increased amounts of sialyloligosaccharides in the tissue of the aborted fetus, while the amount and the pattern of gangliosides in the central nervous system were normal.
authors.affiliation: Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Sasagasako
authors.forename: S
authors.initials: S
authors.lastname: Miyahara
authors.forename: N
authors.initials: N
authors.lastname: Saito
authors.forename: N
authors.initials: N
authors.lastname: Shinnoh
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
authors.forename: I
authors.initials: I
authors.lastname: Goto
mesh_terms: D000368:Aged; D000649:Amniocentesis; D001921:Brain / Q000201:enzymology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005333:Fetus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology; D009439:Neuraminidase / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D001616:beta-Galactosidase / Q000032:analysis
chemical_list: D009439:Neuraminidase; D001616:beta-Galactosidase