ABSTRACT
OBJECTIVE: The aim of this study was to analyze the treatment and evolution of congenital diaphragmatic hernia in the last 16 years, distinguishing two ways of management, and to look for parameters that can predict the evolution. MATERIALS AND METHODS: Between 1978 and 1994, 29 cases of congenital diaphragmatic hernia were treated in our NICU. During the first period (1978-1988) 17 cases (group 1) were treated after birth as a surgical emergency. In the second period (1989-1994), preoperative stabilization was performed before surgery (12 cases, group 2). Two cases of group 2 were excluded because of the association of other malformations that were the cause of death. RESULTS: Both groups were similar in gestational age, birth weight and Apgar score at 5 minutes. Overall mortality was 48.1% (47.0% in group 1 and 50.0% in group 2). No infants with PaCO2 greater than 40 mmHg and OI greater than 40 or VEI over 1,000 survived. CONCLUSION: Despite preoperative stabilization, there is no difference in the mortality rate of the two groups. With congenital diaphragmatic hernia, as with other entities of low incidence, collaborative studies are needed to obtain enough cases to analyze the results more precisely.
Subject(s)
Hernia, Diaphragmatic/surgery , Hernias, Diaphragmatic, Congenital , Female , Hernia, Diaphragmatic/mortality , Humans , Male , Retrospective Studies , Survival RateSubject(s)
Brain/abnormalities , Cerebellum/abnormalities , Brain/diagnostic imaging , Brain/pathology , Cerebellum/diagnostic imaging , Cerebellum/pathology , Humans , Infant, Newborn , Male , Olivary Nucleus/pathology , Pyramidal Tracts/pathology , Radionuclide Imaging , Respiratory Distress Syndrome, Newborn/etiology , Tomography, X-Ray Computed , UltrasonographyABSTRACT
Three patients with argininosuccinic aciduria are described. One of them is a neonatal form, with typical acute course and severe hyperammonemia who died on the sixth day of life. Postmortem analysis showed a marked plasmatic accumulation of argininosuccinic acid. Later on, red blood cell ASA-lyase levels demonstrated the heterozygosity of her parents and sisters. The two other patients are late onset forms and were diagnosed after detection of ASA and its anhydrides in plasma and urine. Levels of these metabolites did not correlate with levels of residual ASA-lyase in erythrocytes. Treatment with a hypoproteic diet supplemented with arginine has improved their clinical state. Carriers have been detected in both families. Importance of rapid diagnosis and treatment of hyperammonemic patients in order to prevent neurologic damage is emphasised.
