Hydrops fetalis associated with red cell pyruvate kinase deficiency

Genet Couns. 1990;1(1):75-9.

Abstract

A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation.

Publication types

  • Case Reports

MeSH terms

  • Erythrocytes / enzymology
  • Fetal Death
  • Humans
  • Hydrops Fetalis / enzymology*
  • Male
  • Pyruvate Kinase / deficiency*
  • Twins

Substances

  • Pyruvate Kinase