Fetal growth retardation and microcephaly revealing maternal phenylketonuria at 35 years of age.

Background, - Some French pregnant women with phenylketonuria (PKU), born b efore 1978, have not been tested with the Guthrie method during the neonata l period. They have a risk of spontaneous abortion and their infants are of ten mentally retarded with microcephaly and/or congenital heart anomaly Case report. - A woman with a moderate mental retardation became pregnant a t the age of 31 gears. Her newborn had a severe intrauterine growth retarda tion with microcephaly and developed mental retardation. This mother became pregnant again 4 years later. Repealed fetal ultrasonography showed progre ssive growth retardation. Maternal blood phenylalanine concentration was 18 mg/100 mL. Therapeutic abortion at 27 weeks of gestational age showed a fe tus with several abnormalities, particularly cardiovascular and cerebral. Conclusion. - It is still possible to meet women with unrecognized atypical PKU. Fetus or infant born with unexplained growth retardation and microcep haly requires search for maternal PKU. (C) 1998 Elsevier, Paris.