title: Hydrops fetalis associated with red cell pyruvate kinase deficiency.
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.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: B P
authors.initials: BP
authors.lastname: Cats
authors.forename: G
authors.initials: G
authors.lastname: Jansen
authors.forename: G E
authors.initials: GE
authors.lastname: Staal
mesh_terms: D004912:Erythrocytes / Q000201:enzymology; D005313:Fetal Death; D006801:Humans; D015160:Hydrops Fetalis / Q000201:enzymology*; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency*; D014427:Twins
chemical_list: D011770:Pyruvate Kinase