title: Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.
abstract: We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. The patient presented with myoclonic jerks, apnea and encephalopathy three months after birth without satisfactory therapeutic response. During the first days of clinical symptoms the patient presented a paroxystic burst-attenuation EEG pattern which progressively evolved into an established typical burst-suppression pattern within a few days. West syndrome occurred four weeks later and the patient died at seven months of extra-uterine life due to a serious respiratory infection with cardio-respiratory arrest. Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system.
authors.affiliation: Department of Clinical Neurophysiology, University General Hospital, Albacete, Spain. josempardal@yahoo.es
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Pardal-Fernández
authors.forename: María Carmen
authors.initials: MC
authors.lastname: Carrascosa-Romero
authors.forename: Carlos
authors.initials: C
authors.lastname: de Cabo-de la Vega
authors.forename: Ivan
authors.initials: I
authors.lastname: Iniesta-López
authors.forename: Esther
authors.initials: E
authors.lastname: Gil-Pons
authors.forename: Andrés
authors.initials: A
authors.lastname: Martínez-Gutiérrez
mesh_terms: D050960:Aminomethyltransferase / Q000235:genetics* / Q000378:metabolism; D001049:Apnea / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D007223:Infant; D052577:Infant, Extremely Low Birth Weight; D007231:Infant, Newborn; D007234:Infant, Premature; D009154:Mutation; D009207:Myoclonus / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D013036:Spasms, Infantile / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D050960:Aminomethyltransferase; D005998:Glycine