Boletín médico del Hospital Infantil de México最新文献

Background: Cor triatriatum dexter (CTD) is an extremely rare pathology, with an incidence of < 0.4%. Its main characteristic is a partitioning of the right atrium by the persistence of the embryonic valve of the right sinus venosus.

Clinical case: In this report, we describe the case of a 7-day-old newborn who presented with persistent cyanosis associated with feeding and crying. The diagnosis of CTD was made after an echocardiogram and confirmed using cardiac magnetic resonance imaging. The patient underwent successful surgery on day 14 with a favorable outcome and without complications.

Conclusion: The importance of our case lies in the identification of rare heart disease as a cause of cyanosis and desaturation in a neonatal patient in the first days of life who did not present signs of heart failure and whose condition improved with supplemental oxygen. We also demonstrate that early diagnosis with echocardiography and surgical resolution resulted in clear clinical improvement and avoided future complications.

Traumatic brain injury (TBI) is a common problem in Latin America and affects many children. Research has advanced, but international publications do not necessarily reflect our reality. For this reason, the Ibero-American Academy of Pediatric Neurology (AINP) formed a committee to review the available evidence, evaluate it, and decide how it could be applied in our region. Articles were searched in different databases and those corresponding to original works were selected, preferably those that received the best qualifications according to the 2011 version of Oxford Levels of Evidence. The main findings are the need to develop a trauma team available throughout the pediatric level III emergency, early monitoring of intracranial pressure, and multimodal monitoring as methods to improve outcomes. We concluded that much remains to be done and more evidence is needed, but more organization is required to provide specialized resources in the emergency care of these patients.

Introduction: Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance, featuring various clinical manifestations. These may encompass acute neonatal liver failure, neonatal cholestatic syndrome, chronic hepatitis, cirrhosis, hepatocellular carcinoma, and, alternatively, kidney disorders like renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, among other alterations. Diagnosis relies on detecting toxic metabolites in the blood and urine, ideally confirmed through molecular testing.

Method: A consensus was reached with experts in the field of inborn errors of metabolism (EIM), including eight pediatric gastroenterologists, two EIM specialists, two geneticists, three pediatric nutritionists specialized in EIM, and a pediatric surgeon specializing in transplants. Six working groups were tasked with formulating statements and justifications, and 32 statements were anonymously voted on using the Likert scale and the Delphi method. The first virtual vote achieved an 80% consensus, with the remaining 20% determined in person.

Results: The statements were categorized into epidemiology, clinical presentation, diagnosis, nutritional and medical treatment, and genetic counseling.

Conclusions: This consensus serves as a valuable tool for primary care physicians, pediatricians, and pediatric gastroenterologists, aiding in the prompt diagnosis and treatment of this disease. Its impact on the morbidity and mortality of patients with tyrosinemia type 1 is substantial.

Background: Elevated liver enzyme levels have been associated with metabolic syndrome in both obese and non-obese pediatric populations. This study aims to compare the serum liver enzyme levels in obese adolescents with and without insulin resistance (IR).

Methods: A cross-sectional analysis was conducted involving obese adolescents aged 10-18. We assessed somatometry, serum insulin levels, lipid profiles, and liver enzymes (aspartate aminotransferase [AST], alanine aminotransferase [ALT], and gamma-glutamyl transferase [GGT]). Statistical differences between groups were evaluated using Student's t-test or the Chi-squared test, with IR (wIR) status matched by propensity scores based on body mass index (BMI) z-scores.

Results: The study included 365 adolescents with obesity, 229 wIR, and 136 without (woIR). Before matching, the wIR group had a significantly higher BMI z-score (2.21 vs. 2.14, p = 0.032). After matching for BMI z-scores (n = 122 each group), the wIR group displayed significantly higher levels of AST (32.3 vs. 24.7, p < 0.001) and ALT (42.4 vs. 30.9, p < 0.001), but no significant differences were observed in GGT levels (37.4 vs. 32.5, p = 0.855).

Conclusion: Obese adolescent's wIR exhibit higher serum ALT and AST levels, suggesting that altered AST is a potential risk factor for IR.