Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder.

Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. Observations: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing. Biomicroscopic examination revealed bilateral corneal haziness with pseudodendritic lesions like tyrosinemia type 2 that were subsided with protein restriction and the use of urea cycle disease (UCD) formula. Conclusions and importance: Citrullinemia is the inherited autosomal recessive disorder of urea cycle that leads to ammonia and accumulation of other toxic substances in the blood. Two types of Citrullinemia have been defined. Citrullinemia type 1, caused by deficiency or reduction in argininosuccinate synthetase enzyme activity due to damaging mutation in ASS1 gene. Citrullinemia type 2 as another subtype is caused by the absence or dysfunction of the mitochondrial membrane carrier protein (SLC25A13), also called CITRIN. Pseudodendritic keratitis is a rare condition that may be seen with tyrosinemia type 2. The association of this ocular complaint with citrullinemia has not been described previously. Awareness of this phenomenon may improve the diagnosis and management of citrullinemia patients.

The Effect of Birth Hour on Neonatal Morbidity and Mortality in Very-Low Birth Weight Infants in a Teaching Hospital.

OBJECTIVE: With the increase in the preterm birth rate, the factors influencing mortality and morbidity in very-low-birth weight neonates have gained importance in recent years. The results of available studies on the influence of birth hour on the mortality and morbidity rates of preterm infants are contradictory. Moreover, no study on this topic has been conducted in our region. MATERIALS AND METHODS: This retrospective cohort study was conducted on 127 very-low-birth weight newborns based on birth hour. The newborns were divided into 2 groups, the first born during working hours (7:00 am to 11:59 pm) and the second born during after-hours care (12-6:59 am). Mortality and major diseases were compared using Statistical Package for the Social Sciences by Fisher's exact tests, Pearson's chi-squared test, and independent t-tests. The statistical significance level for all analyses was set at P < .05 and the CI at 95%. RESULTS: Based on the results of this study in terms of neonatal mortality and major morbidities such as intraventricular hemorrhage and the need for prolonged mechanical ventilation, no significant difference was found between the 2 groups, but the difference in appearance, pulse, grimace, activity, respiration (APGAR) score at the fifth minute was statistically significant and was lower at the working hours. CONCLUSION: The results of the study may be due to appropriate allocation of resources, assignment of tasks, and professionalism of care in our study area. Further study is needed to determine the differences in clinical care processes that cause these results.