title: Hepatosplenomegaly as the only prenatal finding in a fetus with pyruvate kinase deficiency anemia.
abstract: A case of congenital pyruvate kinase deficiency manifested at antenatal ultrasound as isolated hepatosplenomegaly is reported and the differential diagnosis is discussed. An aggressive obstetric management and appropriate neonatal care permitted a favorable neonatal outcome.
authors.affiliation: Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut.
authors.forename: A
authors.initials: A
authors.lastname: Ghidini
authors.forename: M
authors.initials: M
authors.lastname: Sirtori
authors.forename: R
authors.initials: R
authors.lastname: Romero
authors.forename: S
authors.initials: S
authors.lastname: Yarkoni
authors.forename: L
authors.initials: L
authors.lastname: Solomon
authors.forename: J C
authors.initials: JC
authors.lastname: Hobbins
mesh_terms: D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000209:etiology; D006529:Hepatomegaly / Q000000981:diagnostic imaging* / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011770:Pyruvate Kinase / Q000172:deficiency*; D013163:Splenomegaly / Q000000981:diagnostic imaging* / Q000209:etiology; D016216:Ultrasonography, Prenatal
chemical_list: D011770:Pyruvate Kinase