Nonketotic hyperglycinemia and acquired hydrocephalus.
Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism. Patients generally present in the neonatal period with lethargy, feeding difficulty, hypotonia, apnea, poorly controlled convulsions, and coma. Myoclonic seizures and burst suppression pattern on electroencephalography are major findings of disease, but development of hydrocephalus is not an expected finding. The present case is that of an infant with acquired hydrocephalus, psychomotor retardation, and myoclonic seizures in whom the final diagnosis was nonketotic hyperglycinemia.
Yis
Uluc
U
Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University, Izmir, Turkey.
Kurul
Semra Hiz
SH
Dirik
Eray
E
D004569:Electroencephalography; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology*; D020158:Hyperglycinemia, Nonketotic / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D012640:Seizures / Q000209:etiology