Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency

Abstract

This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual development, and schooling of a boy with argininosuccinatesynthetase deficiency (citrullinemia type I) who was rescued from severe neonatal hyperammonemic coma at 8 days of life (peak ammonia level of 1,058 mmol/L). Important clinical management aspects were: rapidity of response to emergency therapeutic measures that included specific drug regimen, protein restriction, optimal caloric intake and hemodialysis, short coma duration (14 h), possible neuroprotective effect of mild systemic hypothermia during the acute episode, long-term metabolic control with strict compliance to standard of care therapeutic and dietary regimens, active prevention of subsequent hyperammonemic episodes, and early neurodevelopmental evaluations and interventions. We conclude that good long-term neurological outcome following rescue from neonatal hyperammonemic coma is rarely reported but attainable. Prospective registries and interventional studies regrouping clinical data from urea cycle disorders patients will assist clinicians in instituting the appropriate therapeutic measures to provide the best prospect of positive long-term outcome for these children.