The EEGs of infants with citrullinemia / Rudolf C. ENGEL in Developmental Medicine & Child Neurology, 27-2 (April 1985)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 27-2 (April 1985) . - p.199-206 Titre : The EEGs of infants with citrullinemia Type de document : Texte imprimé et/ou numérique Auteurs : Rudolf C. ENGEL, Auteur ; Neil R. M. BUIST, Auteur Année de publication : 1985 Article en page(s) : p.199-206 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEGs at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over years revealed mild spasticity, mental retardation and, in one case, cortical atrophy. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=588 [article] The EEGs of infants with citrullinemia [Texte imprimé et/ou numérique] / Rudolf C. ENGEL, Auteur ; Neil R. M. BUIST, Auteur . - 1985 . - p.199-206. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 27-2 (April 1985) . - p.199-206 Index. décimale : PER Périodiques Résumé : Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEGs at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over years revealed mild spasticity, mental retardation and, in one case, cortical atrophy. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=588

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