Phenylketonuria (NORD) Quiz: Ace Your Exams

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A 22-year-old primigravida at 26 weeks gestation comes to the office for routine prenatal care. The patient reports good fetal movement and has no complaints. She has been inconsistent with prenatal care following her initial visit at 12 weeks. An ultrasound for gestational dating at the time was consistent with her last menstrual period. The mother’s blood group is B-negative while the father’s is O-negative. The patient’s past medical history is significant for phenylketonuria. Prior to conceiving, she followed a phenylalanine-restricted diet. Temperature is 37.0°C (98.6°F), pulse is 92/min, respirations are 20/min, and blood pressure is 105/75 mmHg. An ultrasound reveals a fetus at 26 weeks with an estimated weight <10 percentile for gestational age. Laboratory evaluation reveals elevated phenylalanine levels. Which of the following pathologies is the fetus likely to suffer from based on the maternal history? 

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