Departments of Clinical Neurophysiology, Paediatrics and Research, University General Hospital, Albacete, Spain, Department of Neurology, The Walton Centre for Neurology and Neurosurgery, Liverpool, England
- Mots-clés : non-ketotic hyperglycinemia, neonatal encephalopathy, neonatal myoclonic epilepsy, glycine cleavage system, impairment of glycine metabolism, glycinergic system development
- DOI : 10.1684/epd.2009.0249
- Page(s) : 48-53
- Année de parution : 2009
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.