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Abnormal Cerebral Cortical Neurons in a Child With Maternal PKU Syndrome

Departments of Neurology and Pediatrics, State University of New York at Buffalo, Brain Laboratory, Children's Hospital of Buffalo, Buffalo, NY

Kornel Terplan, MD

Departments of Neurology and Pediatrics, State University of New York at Buffalo, Brain Laboratory, Children's Hospital of Buffalo, Buffalo, NY

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. (J Child Neurol 1987;2:201-204).

Journal of Child Neurology, Vol. 2, No. 3, 201-204 (1987)
DOI: 10.1177/088307388700200306


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