Cat-eye syndrome is a rare genetic disease that involves the proximal long (q) arm of chromosome 22. The classic clinical triad includes coloboma of the iris, ears, and anal malformations. This syndrome was named "cat eye" due to the vertical coloboma of the iris. However, the spectrum of clinical manifestations is variable, and the iris coloboma may be absent in 40-50% of cases. Association with congenital heart disease is also frequent and its diagnosis should raise suspicion of a genetic condition. We describe two cases of male infants affected by the cat-eye syndrome, of which no one presented the classic clinical triad. One of them had unpredictable complications that led to prolonged neonatal intensive care unit stay. Although having distinct phenotypes, the diagnosis in both cases was made through nonobstructive total anomalous pulmonary venous return, anal imperforation, and craniofacial anomalies. Iris coloboma was an important clue only in one of them. Prenatal diagnosis is a challenge, such that a genetic study is essential for a final diagnosis in the absence of the classic triad.
Cuffed endotracheal tubes (ETTs) are becoming increasingly used in neonates; nevertheless, current data in the literature mostly include infants over 3,000 g in weight. The aim of this study was to compare the use of cuffed and uncuffed ETTs in neonates in the neonatal intensive care unit of a tertiary children's hospital, assessing the presence of airway complications. We performed a single-center retrospective cohort study. Our study included all term neonates receiving cuffed ETTs over the period from January 2019 to December 2021. The controls were all neonates receiving an uncuffed ETT over the same period. Twenty-five patients were intubated with cuffed ETTs in the study period. The group receiving cuffed ETTs was compared with 53 patients receiving uncuffed ETTs. All cuffed ETTs were inserted in the operating room by anesthesiologists. Comparing the outcomes of the cuffed ETT group with controls, there were no significant differences in the number of unplanned extubations, reintubation episodes, ventilator-associated pneumonia, episodes of atelectasis, the use of dexamethasone, or vocal cord paresis. No unplanned extubation was observed in the cuffed ETT group, and no cases of subglottic stenosis were observed in either of the groups. This retrospective study with a small sample size suggests that the use of cuffed ETTs in surgical patients >2,000 g in weight is not associated with an increase in airway complications. Well-designed randomized controlled trials are needed to compare cuffed ETTs with uncuffed ETTs.
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