Hepatosplenomegaly as the only prenatal finding in a fetus with pyruvate kinase deficiency anemia.
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.
Ghidini
A
A
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut.
Sirtori
M
M
Romero
R
R
Yarkoni
S
S
Solomon
L
L
Hobbins
J C
JC
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
D011770:Pyruvate Kinase