Archivos argentinos de pediatria最新文献

Introduction. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by bleeding telangiectasias and arteriovenous malformations (AVMs) in the brain, lungs, liver, and gastrointestinal tract. In childhood, its manifestations are often subtle or absent, making it difficult to recognize. The lack of evidence in pediatrics, especially in Latin America, favors underdiagnosis and limits the timely management of its complications. This study describes the epidemiological, clinical, genetic, and therapeutic characteristics of pediatric patients with HHT at a referral center. Population and methods. Retrospective, descriptive study of pediatric patients evaluated between 2010 and 2022 in the HHT Unit of a referral center. Epidemiological, clinical, genetic, and therapeutic data were collected from the institutional registry. Results. A total of 158 patients were included, mainly from Buenos Aires and surrounding areas; nearly 70% consulted due to a family history of the disease. The average age at the first consultation was 9 years, with 52% of participants being female. HHT was confirmed in 80 patients using Curaçao criteria and/or genetic testing, with a positivity rate of 50%. Mutations were identified in ACVRL1 (56%), ENG (40%), and MADH4 (2.7%). Epistaxis was the most common symptom (92%), with an average onset at age 7. Pulmonary (13%), central nervous system (11%), hepatic (8%), and digestive (2%) AVMs were detected. Conclusion. The importance of early diagnosis of HHT in pediatrics, as well as the need to recognize signs such as recurrent epistaxis or unexplained hypoxemia, is highlighted to facilitate detection and specialized treatment.

In the last two years, the Nephrology Unit of our hospital recorded an increasing percentage of consultations corresponding to renal damage related to chemotherapy treatments. This increase could be attributed to more precise diagnoses, the development of targeted therapies, and improved survival rates. Chemotherapy prolongs and improves the lives of people with cancer, but it can also negatively affect renal function. Therefore, it is essential to detect predisposing nephrotoxic factors early, such as pre-existing renal damage, neoplastic renal infiltration, the presence of toxic metabolites, and the tubular transport system used by these drugs, with their consequent accumulation in the renal interstitium. It is essential to implement the renal prevention measures recommended in the context of chemotherapy treatment, to administer these drugs at the recommended doses, and to conduct strict clinical monitoring.

The advent of the 20-valent pneumococcal conjugate vaccine (PCV20) in Argentina is a tool to optimize the prevention of invasive pneumococcal disease. Nonetheless, this new vaccine has complicated the diagnosis of selective antibody deficiency (SAD), an inborn error of immunity characterized by an inadequate response to the polysaccharide antigens present in the 23-valent pneumococcal polysaccharide vaccine (PPSV23). The withdrawal of PPSV23 and the introduction of PCV20 hinder the evaluation of polysaccharide responses, given that PCV20 induces a T-dependent immune response. This review examines the current diagnostic criteria for SAD and the limitations of available diagnostic tests in the context of these vaccine changes. Alternative strategies for measuring polysaccharide antibodies are discussed, and the need to maintain PPSV23 availability for a specific patient cohort is emphasized.

Scurvy is a rare disease caused by exogenous ascorbic acid deficiency. It should be considered in atrisk groups, such as patients with neurodevelopmental disorders who present restrictive diets due to food selectivity. Although pulmonary hypertension associated with vitamin C deficiency is extremely rare, its occurrence is possible. Signs and symptoms such as edema, tachycardia, palpitations, and dyspnea should raise suspicion about the diagnosis. In most cases, this condition is transient and can be reversed with early diagnosis and adequate supplementation with ascorbic acid. We present a case of a patient with autism spectrum disorder and vitamin C deficiency who developed pulmonary hypertension.

The Epstein-Barr virus, was discovered in 1964, and was the first identified human oncogenic virus that can persist asymptomatically for life. It is associated with a broad spectrum of diseases in the pediatric population, including benign pathologies such as infectious mononucleosis or severe ones such as hemophagocytic lymphohistiocytosis, among others.Professor Sir Anthony Epstein (1921-2024), an English pathologist and virologist, was its co-discoverer with the Irish virologist Yvonne Barr (1932-2016). We will review the history, and the particularities of the serendipitous character that ended with the virus identification, together with the biography of both scientists who gave rise to this famous eponym, which endures to this day.

Adverse childhood experiences (ACEs) are associated with negative consequences for physical and mental health. ACEs are defined as harmful experiences from conception to age 18. They generate chronic toxic stress when exposed to emotional or sexual abuse or a dysfunctional home. ACEs produce "programming" on brain plasticity with immunoneuroendocrinological, cerebral, and epigenetic changes. The result is suboptimal development of physical, mental, and emotional abilities. This "programming" can be mitigated by resilience, family and social support. When faced with new stressors, psychological and physiological dysregulation will occur, exposing the individual to disease. Between the ages of 0 and 17, 55.9% have had 1 ACE, and 30.6% have had ≥2 ACEs. The consequences are aggression, drug addiction, obesity, asthma, depression/anxiety, decreased resilience, juvenile recidivism, and suicide. Pediatricians are the ones who can detect, prevent, and mitigate ACEs.

Introduction. Autism spectrum disorder (ASD) presents challenges in social communication and behavior. It is more common in males (3:1). Girls receive alternative or delayed diagnoses due to better communication skills, atypical but less unusual interests, greater presence of internalizing behaviors, and camouflage strategies. This can lead to underdiagnosis and limit access to adequate support. Objective. To describe the population of girls and female adolescents (GFA) with ASD being monitored at a tertiary hospital, comparing them according to age and clinical characteristics. Population and methods. Descriptive, cross-sectional study with retrospective analysis of medical records of GFAs evaluated between 2002 and 2024. Data on development, physical examination, and sociodemographic variables were collected. The sample was divided into preschoolers and schoolchildren, and by the presence or absence of language at the time of diagnosis. Results. A sample of 415 GFAs was obtained. Sixteen percent (n = 69) received a late diagnosis. In older girls, two profiles were identified: one compatible with the female phenotype of ASD (language present, lower intellectual disability, consultation for social difficulties) and another with characteristics of profound autism (no language, higher intellectual disability, epilepsy, regression, and greater severity). In preschoolers, cognitive impairment or failure to adapt to formal assessments predominated. A family history of ASD or an broader autism phenotype were present in 19.5% (n = 81) of cases. Conclusion. We observed a high clinical variability, which requires greater diagnostic sensitivity and specific tools to facilitate adequate support.