Early Myoclonic Encephalopathy and Nonketotic Hyperglycinemia

摘要: Early myoclonic encephalopathy is an epileptic syndrome with different etiologies. Nonketotic hyperglycinemia one cause. We describe two cases of early encephalopathy, secondary to nonketotic hyperglycinemia, fatal evolution in the neonatal period. These may better clarify clinical findings that can be associated impairment glycine metabolism. Distinguishing features include agenesis corpus callosum patient 1, and weight loss exceeding 10%, metabolic acidosis, 2. The burst-suppression electroencephalography pattern relatively common encephalopathies, frequently seizures. inborn error metabolism caused by mutations genes encoding protein mitochondrial cleavage system. form a severe, lethal neurologic disease. When electro-clinical features, progressive lethargy hypotonia occur first days life, progressing apnea often death. Prospective treatment oral sodium benzoate, N-methyl-d-aspartate receptor antagonist ketamine, dextromethorphan favorably modify early neonatal course severe but does not prevent poor long-term outcomes.