Archivos argentinos de pediatria最新文献

Gradenigo syndrome (GS) is a rare complication of otitis media, secondary to infection spreading to the petrous apex, with potential involvement of cranial nerves V and VI. We present the unusual case of a previously healthy 5-year-old boy who developed GS after a penetrating trauma to the left ear caused by a schoolmate. The patient presented severe ear pain, purulent otorrhea, and horizontal diplopia with VI cranial nerve palsy and hemifacial hypoesthesia. CT showed petrous bone erosion, and MRI showed meningeal enhancement without abscesses. Antibiotic therapy and transtympanic ventilation tubes were placed, with complete clinical resolution. This case illustrates a rarely reported trigger of GS in pediatrics, highlighting the importance of considering this entity in complicated post-traumatic otitis, where early clinical suspicion, a multidisciplinary approach, and the timely use of imaging studies were decisive for a successful outcome.

Dengue is a viral disease transmitted mainly by the Aedes aegypti mosquito. Argentina has seen a significant increase in epidemics in recent years. Pediatric patients with oncohematological diseases are particularly vulnerable due to their immunosuppression, which can predispose them to severe cases. This report presents five clinical cases of pediatric patients with oncohematological diseases who developed dengue infection, illustrating the variability in its clinical presentation. Symptoms were heterogeneous, ranging from mild forms to severe cases with liver failure, bleeding, and the need for intensive care. Early identification, close monitoring, and an interdisciplinary approach are key to management. This series of cases reinforces the need for active clinical surveillance for fever in an epidemiological context, even in the absence of typical symptoms.

Introduction. Although the use of telemedicine appointments has grown exponentially since the COVID-19 pandemic, missed telemedicine appointments remain a relatively understudied topic. We set out to develop and validate a predictive model to identify patients at high risk of missing telemedicine appointments. Methods. Retrospective cohort. We included telemedicine appointments from August 1, 2020, to March 31, 2021. We included as predictors the clinical characteristics of the patients, missed appointment history, appointment characteristics, social determinants of health, and weather conditions. We developed a predictive model using multivariate mixed-effects logistic regression Results. We included 3339 telemedicine appointments, with a missed appointment rate of 11.35% (95%CI 10.3-12.5). Among the risk factors for missing telemedicine appointments, we found that public health coverage (OR 2.2) and having other appointments on the same day (OR 3.2) increased the likelihood of missing telemedicine appointments. On the other hand, having a chronic condition (OR 0.5) and the number of previous appointments requested (OR 0.7) acted as protective factors. The final predictive model included 19 variables and 4 interactions, with an area under the ROC curve of 0.72 (95%CI 0.70.8) and a calibration slope of 0.78 (95%CI 0.6-0.9), indicating slight overfitting. Conclusion. In this study, we developed and validated a predictive model that identifies children at high risk of missing telemedicine appointments. This model helps guide strategies aimed at reducing missed telemedicine appointments.

The transmission of knowledge is a fundamental aspect of scientific work. In addition to being published, papers are presented at scientific meetings (conferences, etc.). Given the absence of dedicated content on this activity in most undergraduate and graduate curricula, this article offers recommendations for effective oral presentation, including preparation, the use of visual aids with presentation software, and the presentation of the paper. Recommendations are provided for the preliminary organization of the structure, the narrative sequence, the content organization, the calculation of presentation time, the use of legible, clear slides appropriate to the presentation time, and the audience address. All these recommendations can contribute to a better presentation, which is the purpose of this article.

Anti-glomerular basement membrane disease is a rare pediatric autoimmune disease characterized by anti-glomerular basement membrane antibodies that cause rapidly progressive glomerulonephritis and alveolar hemorrhage. Central nervous system (CNS) involvement is sporadic. We present the case of a 13-year-old female patient with cerebral hemorrhage, septic shock, and multiorgan involvement, in whom the diagnosis of anti-glomerular basement membrane disease and CNS vasculitis in the absence of antineutrophil cytoplasmic antibodies (ANCA-negative) was confirmed. Combined treatment with glucocorticoids, cyclophosphamide, and plasmapheresis was performed, resulting in complete neurological and renal recovery. The rare coexistence of these two entities is analyzed. The case highlights the importance of maintaining a high index of diagnostic suspicion in the face of atypical clinical presentations.

Introduction. Telomere length (TL) is a biomarker of cellular aging. Its excessive shortening is associated with telomere biology disorders (TBD), which can manifest from childhood with bone marrow failure and a predisposition to cancer. The clinical interpretation of TL requires age-adjusted reference curves specific to each population. In Argentina, there is no curve of its own. The objective of the study was to construct an age-adjusted telomere length reference curve representative of the Argentine population. Methods. Using the Monochrome Multiplex Quantitative PCR (MMQPCR) technique, TL was estimated in 159 samples from healthy individuals (0-50 years old). The percentile curve was adjusted using a generalized linear model with a gamma distribution. Validation was performed using 19 controls (normal and pathological) that had previously been evaluated by MMQPCR or Southern blot in international laboratories. Results. The curve allowed us to estimate age-adjusted TL percentiles (P1-P95). All samples with a clinical or molecular diagnosis of TBD were below P10, and cases with severe phenotypes were below P1. Normal controls were above P10. The technique demonstrated good reproducibility and adequate model adjustment. Conclusions. The first age-adjusted TL reference curve was generated in the Argentine population. It is a valuable tool for local laboratories that use the same methodology, guiding the diagnosis of TBD. Its integration with next-generation sequencing techniques increases diagnostic sensitivity and allows for a more accurate approach to these syndromes.

Primary hyperparathyroidism in patients with tuberous sclerosis (TS) is extremely rare: only three cases have been reported previously, two of them in pediatric patients. An 11-year-old male patient with a clinical and molecular diagnosis of TS presented with mild symptomatic hypercalcemia in routine laboratory tests. Biochemical evaluation confirmed hypercalcemia with hypophosphatemia and inadequate parathyroid hormone levels, with radiological signs of hyperparathyroidism. Ultrasound demostrated hyperplasia of the left superior parathyroid gland, and a sestamibi and technetium-99m scintigram showed hyperfunctioning parathyroid tissue in both superior parathyroid glands. Patient underwent surgical excision of the affected parathyroid glands He presented with transient postoperative hypoparathyroidism. Although the presentation of hyperparathyroidism in TS is infrequent, we recommend evaluating symptoms associated with hypercalcemia and eventually obtaining serum calcium and phophorus measurements early diagnosis and timely treatment may prevent renal and bone complications.

Klinefelter syndrome (KS), the most common sex chromosome aneuploidy in males, is often underdiagnosed until adolescence, delaying early intervention. We describe 11 pediatric patients with KS who were followed between 2005 and 2025 to identify early markers. Three were diagnosed prenatally; the remaining eight were diagnosed at a median age of 6.1 years, mainly due to neurodevelopmental problems. Of the total of 11 patients, 9 had delayed language acquisition, followed by 8 with psychomotor delay, 5 with behavioral disorders, 3 with sleep disorders, and 2 with epilepsy. Endocrinological comorbidities were less frequent in childhood. Delayed language development emerges as a crucial early indicator. Active detection, along with other neurodevelopmental comorbidities, is essential to address underdiagnosis and enable early, multidisciplinary intervention, thereby significantly improving patients' developmental outcomes and quality of life in KS.

Tongue-tie is a congenital condition characterized by an abnormal insertion that limits tongue mobility. Its prevalence in pediatrics ranges from 1.7% to 10%, depending on the diagnostic criteria applied. Although it can be asymptomatic, in many cases it causes significant functional repercussions from the neonatal period to late childhood. This article aims to describe the clinical manifestations by age, the primary surgical indications, the optimal timing for intervention, and the currently available surgical techniques.

ntroduction. Sepsis is one of the leading causes of pediatric mortality in Argentina. The aim was to describe the epidemiological characteristics of sepsis and septic shock (ESSPED-2 study) in pediatric intensive care units (PICUs) in Argentina and compare them with previous data from the Epidemiological Study of Severe Pediatric Sepsis (ESSPED). Population and methods. An observational, cross-sectional, prospective study in patients with sepsis hospitalized in PICUs in Argentina from September 15, 2021, to December 15, 2021. Results. A total of 3230 patients were admitted to 55 PICUs. We included 428 patients who had 476 events. The median age was 17 months (4.2-74.2). The prevalence was 14.7%, and the 28-day mortality rate was 16.5%; 36.7% of patients did not receive antibiotics within the first hour. Receiving more than 60 mL/kg of fluids in the first 60 minutes showed a negative trend in mortality. Patients with comorbidities, septic shock, acute respiratory distress syndrome (ARDS), dysfunction of 2 or more organs, and phenotype D had higher mortality. The clinical characteristics and prevalence remained unchanged, whereas the administration of fluids and the use of vasoactive drugs changed, and mortality rates decreased significantly. Conclusions. Sepsis is an event of high prevalence and mortality in Argentina. In the multivariate analysis, the variables lose relevance, except for the presence of dysfunction in 2 or more organs, septic shock, a Pediatric Mortality Index (PMI3) value greater than 15, or being an immunocompromised host.