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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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