title: Abnormal cerebral cortical neurons in a child with maternal PKU syndrome.
abstract: A child born to a phenylketonuric (PKU) woman not on dietary treatment was microcephalic and had congenital heart and other physical anomalies consistent with the maternal PKU syndrome. After a repeat cardiac catherization at 3 months of age, he suffered an embolic left cerebral infarct and seizures. He was found by his mother dead in bed at 4 months of age; general autopsy revealed Klebsiella sepsis and pneumonia. Neuropathologic studies of the right cerebral hemisphere showed neuronal loss of the third cortical layer; Golgi studies revealed persistently immature cortical pyramidal cell somata and dendritic spines. This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of microcephaly, mental retardation, and seizures seen in affected children.
mesh_terms: D002540:Cerebral Cortex / Q000473:pathology*; D003712:Dendrites / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D009474:Neurons / Q000473:pathology*; D010661:Phenylketonurias / Q000235:genetics* / Q000473:pathology