Hepatosplenomegaly as the only prenatal finding in a fetus with pyruvate kinase deficiency anemia

Am J Perinatol. 1991 Jan;8(1):44-6. doi: 10.1055/s-2007-999339.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / etiology*
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / etiology
  • Hepatomegaly / diagnostic imaging*
  • Hepatomegaly / etiology
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Pyruvate Kinase / deficiency*
  • Splenomegaly / diagnostic imaging*
  • Splenomegaly / etiology
  • Ultrasonography, Prenatal*

Substances

  • Pyruvate Kinase