Abnormal cerebral cortical neurons in a child with maternal PKU syndrome.
J Child Neurol
; 2(3): 201-4, 1987 Jul.
Article
em En
| MEDLINE
| ID: mdl-3611635
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenilcetonúrias
/
Córtex Cerebral
/
Neurônios
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
1987
Tipo de documento:
Article