title: Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.
abstract: Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the fetus, which usually present as vacuolization of placental cells. We describe a rare case of recurrent hydrops that was detected by placental examination. Through light microscopy, electron microscope (EM) studies and beta-glucocerebrosidase activity the disease was identified as Gaucher's disease.
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical School, Moro, Saitama, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Soma
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Osawa
authors.forename: T
authors.initials: T
authors.lastname: Hata
authors.forename: T
authors.initials: T
authors.lastname: Oguro
authors.forename: M
authors.initials: M
authors.lastname: Kudo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002824:Chorionic Villi / Q000473:pathology*; D004247:DNA / Q000032:analysis; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000209:etiology; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010586:Phagocytes / Q000473:pathology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D001616:beta-Galactosidase / Q000378:metabolism; D001617:beta-Glucosidase / Q000378:metabolism
chemical_list: D004247:DNA; D001617:beta-Glucosidase; D001616:beta-Galactosidase