Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.
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.
Pardal-Fernández
José Manuel
JM
Department of Clinical Neurophysiology, University General Hospital, Albacete, Spain. josempardal@yahoo.es
Carrascosa-Romero
María Carmen
MC
de Cabo-de la Vega
Carlos
C
Iniesta-López
Ivan
I
Gil-Pons
Esther
E
Martínez-Gutiérrez
Andrés
A
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
D050960:Aminomethyltransferase; D005998:Glycine