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