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
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Anemia, Hemolytic, Congenital / etiology*
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Female
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Fetal Diseases / diagnostic imaging*
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Fetal Diseases / etiology
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Hepatomegaly / diagnostic imaging*
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Hepatomegaly / etiology
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Humans
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Infant, Newborn
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Pregnancy
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Pyruvate Kinase / deficiency*
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Splenomegaly / diagnostic imaging*
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Splenomegaly / etiology
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Ultrasonography, Prenatal*