P Lalaguna-Mallada, R García-Romero, B Alonso-del Val, S Rite-Gracia, J Lopez-Pisón, A Baldellou-Vázquez, M I Salazar García-Blanco, C Yus-Gotor, P Briones-Godino, A Marco-Tello, V Rebage
INTRODUCTION: Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. CASE REPORT: A newborn that came in again on her third day of life due to a apneic episodes which required mechanical ventilation. Previously, she rejected feeding, had poor suction, lethargy and remarkable hypoactivity. During the following hours, she showed serious neurologycal deterioration with multifocal convulsions and coma, passing away 20 hours after admission due to endocraneal hypertension...
April 1, 2003: Revista de Neurologia