Archivos argentinos de pediatria最新文献

ntroduction. Autoimmune liver disease is a chronic and progressive inflammatory pathology; it often requires organ transplantation. In pediatrics, although the incidence is low, a significant percentage of patients also present with associated extrahepatic autoimmune diseases. Diagnosis is based on elevated transaminases and immunoglobulins, the presence of autoantibodies, and specific histological findings, with the absence of other known liver pathologies. Objective. To determine the prevalence of extrahepatic autoimmune diseases in pediatric patients with autoimmune liver disease, to describe the relationship between these entities, and to evaluate possible clinical and laboratory differences at diagnosis between patients with and without associated extrahepatic autoimmune diseases. Population and methods. Retrospective study that analyzed pediatric patients diagnosed with autoimmune liver disease between 2000 and 2022 in a tertiary-level hospital. Results. A total of 139 patients were included, with 62.6% being women. The median age at diagnosis was 7.3 years. The most frequent type of autoimmune hepatitis was type 1 (74.8%). An associated extrahepatic disease was present in 41.7% of patients; ulcerative colitis was the most common (39.7%), followed by celiac disease (20.7%) and hypothyroidism (12.1%). Ulcerative colitis was present in 73.3% of patients with autoimmune sclerosing cholangitis. Patients without associated autoimmune extrahepatic disease required liver transplantation more frequently (18.5%) than those with associated extrahepatic disease (5.2%). Conclusion. The study shows a high prevalence of extrahepatic autoimmune diseases in children with autoimmune liver disease. Ulcerative colitis is the most frequent, especially in cases of autoimmune sclerosing cholangitis.

Introduction. Anti-Müllerian hormone (AMH) is a specific marker of gonadal Sertoli cells, usually used for the diagnosis of disorders of sexual development. Currently, automated methods for measuring AMH are routinely incorporated into clinical laboratories. Objective. To obtain reference values of AMH in a population of healthy neonates and infants using an electrochemiluminescent immunoassay (ECLIA). Population and methods. We analyzed 599 serum samples from healthy neonates and infants (F = 296, M = 303) aged 2 to 291 days, with a distribution as follows: ≤15 days (n = 352) and >15 days (n = 247). An ECLIA-Roche™ assay determined AMH. AMH distribution percentiles were calculated using the Bootstrap method. Results. AMH values (ng/mL) in neonates and infants were: M: (≤15 days: P2.5: 27.5; P97.5: 118.3; >15 days: P2.5: 13.9; P97.5: 186.0. F: ≤15 days: P2.5: 0.03; P97.5: 4.00; >15 days: P2.5: 0.03; P97.5: 11.5. Conclusion. Our work provides reference values of AMH according to age and sex, facilitating its appropriate clinical use in the endocrinological evaluation of a population. The results obtained are consistent with previous studies, which show that AMH values are elevated at birth in males, reflecting the expression of Sertoli cell functionality.

Introduction. Respiratory syncytial virus (RSV) is a leading cause of acute respiratory infections. This study aimed to characterize outpatient RSV cases in children under 5 years of age who attended a public pediatric hospital. Population and methods. Cross-sectional study between 2022 and 2024. We analyzed 102 ambulatory cases of acute respiratory infection due to RSV diagnosed in the Ambulatory Monitoring Unit. Results: The median age was 16.4 months; 70% were younger than 24 months, and 54.9% were male. Most of the patients belonged to the middle class, and 62.5% of the mothers had a secondary education or higher; 88.7% were born at term, 54% by cesarean section, and 43.2% were exclusively breastfed until six months; 19.6% had some comorbidity. The most common manifestations were cough (99%), fever (86%), rhinorrhea (84%), and respiratory distress (32%). The primary diagnoses were bronchiolitis or obstructive bronchial syndrome (50.9%) and influenza-like illness (30.4%). Antibiotics were administered to 21.6% of the patients. Of the working caregivers, 62.5% had to be absent from work, with a median absence of 1.5 days. Conclusion. In patients attended on an outpatient basis, RSV presented seasonally, affecting mainly healthy children aged 13-24 months, with bronchiolitis being the most common diagnosis.

The goal of the treatment is to relieve symptoms, achieve duodenal mucosal healing, avoid long term complications, and ensure children´s appropriate growth, for which it´s necessary to follow a lifelong, nutritionally complete and healthy gluten free diet (GFD).The Celiac Disease Working Group of the Gastroenterology Committee of the Sociedad Argentina de Pediatría developed this guide based on expert consensus, aimed at gastroenterologists, pediatricians and primary care physicians with the objective of updating the following topics: Treatment. Definition of gluten free food. Nutritional approach to children with celiac disease. Clinical, nutritional aspects and laboratory tests that should be monitored at initial controls. The importance of follow up visits, their frequency, which professionals should make up the monitoring team and what should be assessed. How to assess adherence to the GFD and other recommendations.

Parry-Romberg syndrome is a rare form of localized scleroderma that can affect deep tissues, including muscles and the central nervous system. Early and appropriate treatment during the inflammatory phase is essential to prevent serious sequelae. We present the case of an 11-year-old patient whose first manifestation was a palpebral hypochromia, followed by pseudo paralysis of the third cranial nerve with ptosis and hypotropia, whose late diagnosis delayed the start of treatment and conditioned an unfavorable evolution. This work emphasizes the significance of early diagnosis in enhancing prognosis and preventing permanent sequelae.

Hyperparathyroidism is a rare entity in pediatrics. It is defined as the increased production of parathyroid hormone. It may be due to a primary defect of the parathyroid glands (primary hyperparathyroidism) or to a compensatory parathyroid hormone production to correct hypocalcemia states of various origins (secondary hyperparathyroidism). We describe the case of a 15-year-old adolescent girl with a history of several months of deteriorating school performance, anxiety crises, weight loss, and tachycardia. Laboratory results showed hypercalcemia, hypophosphatemia, increased parathyroid hormones, and hypovitaminosis D; imaging studies showed generalized bone involvement and parathyroid nodular formation. A parathyroidectomy and right hemithyroidectomy were performed, after which she presented persistent hungry bone syndrome. The anatomopathological diagnosis was an atypical parathyroid tumor. We describe the form of presentation, the results of the different complementary tests performed, and the short- and long-term evolution.

Rhabdomyolysis is the clinical picture characterized by the destruction of skeletal muscle. It is associated with the consequent elevation of serum creatine kinase above five times its standard value or greater than 1,000 U/L. Its most frequent causes are acquired. However, less frequent causes, such as congenital metabolic diseases, should be considered when the rhabdomyolysis event recurs. We describe the case of a pediatric patient with recurrent rhabdomyolysis, which triggered by a type IX glycogenosis with a PHKA1 gene mutation. This pathogenic variant generates muscle phosphorylase kinase enzyme deficiency, hindering the use of glycogen as an energy source during prolonged fasting or metabolic demands. We consider it essential to increase knowledge about these entities in the face of recurrent rhabdomyolysis in the pediatric age for early detection and timely referral to a specialist.

Introduction. Endotracheal intubation is one of the most important technical skills in neonatal resuscitation. However, it can be challenging in various situations. The use of the laryngeal mask (LM) may be an alternative. However, its use is not yet standardized in current neonatal resuscitation algorithms. The study aimed to evaluate whether the standardized use of an LM in difficult airway (DAW) situations reduces the time to achieve effective ventilation (EVT) in a clinical simulation setting. Population and methods. This was a blinded, randomized, simulation-based study. A modified algorithm was developed that emphasized the early use of LM in cases of DAW. Two groups of neonatologists were randomly assigned to receive training in two different resuscitation algorithms (standard and modified). After training, the physicians participated in two simulation scenarios, one with a normal airway and one with a difficult airway. Results. Sixty-nine neonatologists participated in the study, 36 in the intervention group. No significant differences in EVT were observed between the two groups. However, when we analyzed those participants who used the LM on the first attempt, regardless of the training received, a shorter time was observed: 9.5 seconds (IQR 7-11) versus 63 seconds (IQR 42-89); p <0.01. Conclusions. Standardized use of LM in DAW situations could reduce the time to achieve effective ventilation.