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Agenesis of the Corpus Callosum and Gyral Malformations are Frequent Manifestations of Nonketotic Hyperglycinemia
Neurol 39:817-820, Dobyns,W.B., 1989
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Article Abstract
A 2-week-old infant who presented with myoclonic encephalopathy had biochemical abnormalities consistent with nonketotic hyperglycinemia. Cranial CT showed agenesis of the corpus callosum,gyral malformation,and ventricular enlargement.Similar brain abnormalities occurred in 9 of 15 previously reported patients.Including this patient,agenesis of the corpus callosum appeared in 6 of 15 patients,gyral malformation in 6 of 14, ventricular enlargement in 5 of 15,and cerebellar hypoplasia in 2 of 16. Nonketotic hyperglycinemia thus joins a growing list of inborn errors of metabolism associated with brain malformations.
 
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agenesis of corpus callosum
CAT scan
CAT scan,abnormal
corpus callosum
glycine
hyperglycinemia
hyperglycinemia,nonketotic
inborn errors of metabolism
malformation,CNS,congenital
myoclonic encephalopathy of infancy
myoclonic jerks
seizure

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