[Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with microcephaly].
BACKGROUND
Some French pregnant women with phenylketonuria (PKU), born before 1978, have not been tested with the Guthrie method during the neonatal period. They have a risk of spontaneous abortion and their infants are often mentally retarded with microcephaly and/or congenital heart anomaly.


METHODS
A woman with a moderate mental retardation became pregnant at the age of 31 years. Her newborn had a severe intrauterine growth retardation with microcephaly and developed mental retardation. This mother became pregnant again 4 years later. Repeated fetal ultrasonography showed progressive growth retardation. Maternal blood phenylalanine concentration was 18 mg/100 mL. Therapeutic abortion at 27 weeks of gestational age showed a fetus with several abnormalities, particularly cardiovascular and cerebral.


CONCLUSIONS
It is still possible to meet women with unrecognized atypical PKU. Fetus or infant born with unexplained growth retardation and microcephaly requires search for maternal PKU.
Thibaud
D
D
Service de pédiatrie, centre hospitalier Marc-Jacquet, Melun, France.
Ploussard
J P
JP
Vaquant
P O
PO
Chemouny
S
S
Kleitz
T
T
D000025:Abortion, Eugenic; D000328:Adult; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
Diagnostic de phénylcétonurie chez une mère âgée de 35 ans à l'occasion de la découverte anténatale d'un retard de croissance intra-utérin avec microcéphalie.