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Hydrops fetalis associated with red cell pyruvate kinase deficiency
R C Hennekam1, F A Beemer, B P Cats
1Clinical Genetics Center Utrecht, The Netherlands.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1990
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.