Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

Skin sonography in children: a review.

Skin lesions are not uncommon in children, and most of them are benign. However, they can be a matter of concern. Although in most cases the diagnosis can be suspected based on clinical history and physical examination, in some cases clinical findings are nonspecific. High-frequency color Doppler US is a noninvasive technique that can play a relevant role in these cases and give important anatomical information for final clinical management. US can be helpful to avoid unnecessary surgery, plan a surgical excision and avoid advanced imaging studies such as MRI and CT, which have a lower resolution for the skin. Different lesions can look similar on US, and clinical correlation is always important. The purpose of this article is to show a variety of skin lesions that occur in children, emphasizing clinical-sonographic correlation, and to familiarize pediatric radiologists with the US technique and sonographic appearance of common skin lesions in children.

Early Obesity: Risk Factor for Fatty Liver Disease.

Nonalcoholic fatty liver disease (NAFLD), defined as fat accumulation greater than 5% in hepatocytes, may progress to fibrosis or cirrhosis later in life. NAFLD prevalence in adolescents has increased significantly in direct relation with obesity prevalence. Fatty liver has become the most frequent indication for liver transplantation in adults. OBJECTIVE: The aim of the study was to identify anthropometric variables during the first 10 years of life associated to the risk of developing NAFLD in adolescence. METHODS: Longitudinal cohort study 'Growth and Obesity Chilean Cohort Study' (GOCS) consisting of 513 children born in 2002 to 2003, with yearly anthropometric data collected over a 10-year period. The presence of intrahepatic fat in the livers of subjects 14 to 16 years of age was determined using abdominal ultrasound. In addition, elastography was performed on all participants with ultrasound evidence of NAFLD. RESULTS: 9.7% of the participants presented findings compatible with NAFLD. After 2 years of age, obesity significantly and progressively increased the probability of NAFLD occurrence in adolescence. Obesity at 5 years of age was associated with the highest OR for NAFLD, reaching values of 8.91 (95% CI 3.03-16.11). Among participants with NAFLD, those with altered liver elasticity (≥7 kPa) had greater weight, BMI z-score, waist and hip circumference, and altered liver enzymes (P < 0.05). CONCLUSION: The risk of developing NAFLD in adolescence increases progressively with early obesity starting at age 2 years.

[Renal function in pediatric patients with allogeneic hematopoietic progenitor cell transplantation]. / Función renal en pacientes pediátricos con trasplante alogénico de progenitores hematopoyéticos.

UNLABELLED: Patients with hematopoietic stem cell transplantation can develop some degree of renal failure. The aim of this descriptive study is to evaluate markers of kidney injury in pediatric patients undergoing allogeneic hematopoietic stem cell transplantation between 1991 and 2011. PATIENTS AND METHOD: A descriptive study of pediatric patients with allogeneic transplant of hematopoietic precursors between 1991 and 2011. The patients were between 1 month and 18 years of age at the time of the study and had at least 6 months of follow up. Clinical and nutritional history, continuous blood pressure monitoring (ABPM), urine tests, proteinuria, creatinine and renal and bladder ultrasonography imaging were evaluated. RESULTS: During this period 65 patients were transplanted, of which 13 patients were included. 46% (n = 6) showed diverse degrees of renal compromise defined by altered renal parenchymal echogenicity, clinic or masked hypertension and/or microalbuminuria. CONCLUSION: In this clinical group, almost half of the patients patients had some degree of renal injury in their evolution. We consider essential to assess the renal function in the follow-up of these patients.

Relation between Body Composition Trajectories from Childhood to Adolescence and Nonalcoholic Fatty Liver Disease Risk.

NAFLD has become the leading cause of chronic liver disease in children, as a direct consequence of the high prevalence of childhood obesity. This study aimed to characterize body composition trajectories from childhood to adolescence and their association with the risk of developing nonalcoholic fatty liver disease (NAFLD) during adolescence. The participants were part of the 'Chilean Growth and Obesity Cohort Study', comprising 784 children who were followed prospectively from age 3 years. Annual assessments of nutritional status and body composition were conducted, with ultrasound screening for NAFLD during adolescence revealing a 9.8% prevalence. Higher waist circumference measures were associated with NAFLD from age 3 years (p = 0.03), all skin folds from age 4 years (p < 0.01), and DXA body fat measurements from age 12 years (p = 0.01). The fat-free mass index was higher in females (p = 0.006) but not in males (p = 0.211). The second and third tertiles of the fat mass index (FMI) had odds ratios for NAFLD during adolescence of 2.19 (1.48-3.25, 95% CI) and 6.94 (4.79-10.04, 95% CI), respectively. Elevated waist circumference, skin folds, and total body fat were identified as risk factors for future NAFLD development. A higher FMI during childhood was associated with an increased risk of NAFLD during adolescence.

Two Decades of Thyroid Nodule Cytology in Children: Malignancy Risk Assessment at a Tertiary Care Center.

INTRODUCTION: Pediatric thyroid nodules exhibit higher malignancy rates compared to adults and are associated with increased incidences of metastases and recurrences. The American Thyroid Association recommends surgery for indeterminate thyroid biopsies in children based on these higher malignancy risks, though this approach may lead to overtreatment. However, there remains a lack of comprehensive pediatric data to inform clinical decisions. This study examines the risk of malignancy (ROM) in pediatric thyroid nodules using the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) and assesses the diagnostic accuracy of fine-needle aspiration (FNA) biopsy compared to histological outcomes. METHODS: A retrospective cross-sectional analysis was performed on patients under 19 years with thyroid nodules who underwent FNA and thyroidectomy at a tertiary care center. The sensitivity, specificity, positive predictive value, negative predictive value, and ROM of cytological biopsies were evaluated using TBSRTC criteria, with histology serving as the gold standard. Two analyses were conducted to assess diagnostic accuracy: (a) TBSRTC II as negative and TBSRTC VI as positive and (b) TBSRTC II as negative with TBSRTC V and VI as positive. For neoplasia detection, TBSRTC II was deemed negative, while TBSRTC IV, V, and VI were considered positive. TBSRTC categories III and I were excluded from the performance analysis and evaluated separately. Follicular neoplasm or lesions suspicious for follicular neoplasm (FN/SFN) were treated as positive outcomes, correlated with the presence of adenoma or carcinoma in the surgical specimen. RESULTS: Of 75 nodules from 73 patients, 28 (37.3%) were benign and 47 (62.6%) malignant. No significant differences in gender or age were noted between groups. The ROM in each TBSRTC was Bethesda I 0/2, 0%; II 0/13, 0%; III 2/7, 29%: IV 6/14, 43%; V 10/10, 100%, and VI 29/29, 100%. A sensitivity of 78.38% and specificity of 100% for FNA in detecting malignancy was found, with an even higher sensitivity (100%) for detecting neoplasia in TBSRTC IV. CONCLUSIONS: This study reveals that indeterminate thyroid nodules in pediatric patients exhibit a higher rate of malignancy compared to adults, yet align with rates previously reported in the pediatric population. These findings highlight the critical need for guidelines tailored specifically to the management of thyroid nodules and thyroid cancer in children.

Función renal en pacientes pediátricos con trasplante alogénico de progenitores hematopoyéticos / Renal function in pediatric patients with allogeneic hematopoietic progenitor cell transplantation

Patients with hematopoietic stem cell transplantation can develop some degree of renal failure. The aim of this descriptive study is to evaluate markers of kidney injury in pediatric patients undergoing allogeneic hematopoietic stem cell transplantation between 1991 and 2011. Patients and Method: A descriptive study of pediatric patients with allogeneic transplant of hematopoietic precursors between 1991 and 2011. The patients were between 1 month and 18 years of age at the time of the study and had at least 6 months of follow up. Clinical and nutritional history, continuous blood pressure monitoring (ABPM), urine tests, proteinuria, creatinine and renal and bladder ultrasonography imaging were evaluated. Results: During this period 65 patients were transplanted, of which 13 patients were included. 46% (n = 6) showed diverse degrees of renal compromise defined by altered renal parenchymal echogenicity, clinic or masked hypertension and/or microalbuminuria. Conclusion: In this clinical group, almost half of the patients patients had some degree of renal injury in their evolution. We consider essential to assess the renal function in the follow-up of these patients.

Introducción: Los pacientes con trasplante de progenitores hematopoyéticos pueden evolucionar con algún grado de compromiso renal. El objetivo de este estudio descriptivo fue evaluar marcadores de injuria renal en pacientes pediátricos sometidos a trasplante alogénico de progenitores hematopoyéticos entre 1991 y 2011. Pacientes y Método: Estudio descriptivo en pacientes pediátricos con Trasplante alogénico de Precursores Hematopoyéticos entre los años 1991 y 2011 con edad entre 1 mes y 18 años al momento de realizar el estudio y que tuviesen al menos 6 meses de seguimiento. Se evaluaron antecedentes clínicos, nutricionales, presión arterial por monitoreo continuo (MAPA), exámenes de orina, proteinuria, creatininuria y estudio de imágenes por ecotomografía renal y vesical. Resultados: Durante este período se trasplantaron 65 pacientes, de los cuales se incluyeron 13 pacientes. Un 46% (n = 6) presentó compromiso renal de grado variable definido por alteración en la ecogenicidad del parénquima renal, hipertensión arterial clínica o enmascarada y/o microalbuminuria. Conclusión: En la serie clínica estudiada con el 50% de los pacientes presentó algún grado de injuria renal en su evolución. Consideramos importante evaluar función renal en el seguimiento de este grupo de pacientes.

Enteroclisis por tomografía computarizada en niños: experiencia inicial, técnica y utilidad / Computed tomography enteroclysis in children: initial experience, technical and profit

Objetivo: Evaluar la técnica de enteroclisis por tomografía computarizada (ETC ) y revisar sus indicaciones y hallazgos en niños. Materiales y métodos: Revisión retrospectiva de todas las ETC realizadas por los autores en pacientes menores de 18 años de edad entre enero de 2005 y marzo de 2009. Además, se relacionan los resultados con otros métodos de imagen, cirugía o patología. Resultados: Se revisaron 30 ETC (edad media 14,6 años, rango 8-18 años). Las indicaciones más comunes fueron: enfermedad inflamatoria intestinal (55%), dolor abdominal (25%), posquirúrgico (7%), hemorragia digestiva (5%), síndrome de Peutz-Jeghers (4%) y emésis (4%). No hubo complicaciones. El 10% de los estudios fue normal. El hallazgo más común fue enfermedad de Crohn (37%) y obstrucción parcial del intestino delgado (26%). Conclusión: La ETC es fácil y certera en la pesquisa de la patología de intestino delgado en niños. Esta técnica es de gran utilidad en pacientes con enfermedad de Crohn con afectación del intestino delgado.

Objective: To evaluate CT enteroclysis technique (CT E) and to review their indications and findings in children. Materials and Methods: We retrospectively reviewed all CT enteroclysis studies in younger than 18 years performed between January 2005 and March 2009. We correlated the results with other abdominal imaging studies and surgical and pathological findings. Results: Thereview revealed 30 CTE studies performed (mean age 14.6 years, range 8–18 years). CTE study wasperformed most commonly for evaluation of suspicious intestinal inflammatory disease (55%), abdominal pain (25%), post-operative (7%) digestive hemorrhage (5%) Peutz Jeghers syndrome (4%) and vomiting (4%). No complications of CTE were reported. The findings were normal in 10% of the CT E studies. The most common small bowel diagnoses were Crohn’s disease (37%) andpartial small bowel obstruction (26%). Conclusion: CTE is safe, feasible, and accurate in depicting small-bowel pathology in children. This technique can be particularly useful in children with Crohn’s disease involving the small bowel.

Reducción neumática de invaginación intestinal en niños: experiencia clínica y técnica / Intussusception pneumatic reduction in children: clinical and technical experience

Objetivo: Evaluar la facilidad y efectividad de la reducción neumática de la invaginación intestinal en niños. Materiales y métodos: El grupo de estudio estuvo conformado por 14 niños y 6 niñas, entre un mes y tres años de edad, a quienes se les realizaron 21 reducciones neumáticas desde enero de 2006 a abril de 2009. La invaginación intestinal fue diagnosticada en todos los pacientes por los criterios ecográficos conocidos y a todos se les realizó la reducción bajo control fluoroscópico. Se mantuvo una presión de 120 mm Hg durante 30 segundos con guía fluoroscópica. Resultados: El índice de éxito fue del 95% (20 reducciones de 21), sin recurrencia inmediata. En un paciente no se logró la reducción por encontrársele un divertículo de Meckel, que requirió cirugía. No se presentaron perforaciones intestinales y un paciente tuvo una invaginación recurrente tardía. Conclusión: La reducción neumática de la invaginación intestinal es un método seguro y muy efectivo, con una alta tasa de éxito.

Objective: To assess the feasibility and effectiveness of pneumatic reduction as a non surgical treatment of intussusception in children. Materials and Methods: We studied retrospectively 20 consecutive patients (aged 1 month to 3 years; 14 boys, 6 girls) who underwent pneumatic reduction of intussusception from January 2006 to April 2009. Previous abdominal sonography was performedand confirmed the diagnosis of intussusception in all of them. All patients underwent pneumaticreduction under fluoroscopic guidance using the standard technique. Results: The overall success rate of pneumatic reduction in intussusception was of 95% (20 of 21 reductions), with no cases of immediate recurrence. In a patient who had a Meckel’s diverticulum, the intussusception could not be reduced. There were no cases of intestinal perforation or other complications and recurrence of intussusception occurred only in one patient. Conclusion: Pneumatic reduction is a safe, feasible and highly effective method for treatment of intussusception in children.

Experiencia de 6 años en la evaluación de las cardiopatías congénitas con resonancia magnética / Evaluation of congenital heart disease using magnetic resonance imaging: a 6 year experience

Introducción: La Resonancia Magnética (RM) es de gran ayuda como método complementario en la evaluación de las cardiopatías congénitas debido a que provee información anatómica y funcional. Objetivo: Describir la utilidad, indicaciones y hallazgos más comunes en la evaluación de las cardiopatías congénitas por RM Método: Se realizó un análisis retrospectivo de las RM cardíacas efectuadas entre el año 2002 hasta el 2008 en el Hospital Clínico de la Pontificia Universidad Católica de Chile. Se incluyó la totalidad de los pacientes en edad pediátrica y aquellos adultos en los cuales la indicación del examen fue por cardiopatía congénita, tanto para evaluación preoperatoria como para control postquirúrgico. Se realizó estudio anatómico, funcional y se utilizó contraste paramagnético intravenoso en los casos necesarios. Resultados: Se realizaron 180 estudios. La indicación más frecuente fue la evaluación postoperatoria de la tetralogía de Fallot, seguida por drenaje venoso pulmonar anómalo, miocardiopatía no compactada y coartación de Aorta, entre otros. Conclusiones: La RM cardíaca es de gran utilidad en la evaluación de las cardiopatías congénitas, ya que demuestra detalles anatómicos con excelente resolución de contraste y provee además información funcional y de dinámicas de flujo.

Background: Magnetic resonance imaging (MRI) is helpful in the evaluation of congenital heart diseases because it provides anatomical and functional information. Aim: To describe the utility, indications and more commons findings in the evaluation of the congenital heart diseases using MRI.Method: A retrospective analysis of the cardiac MRI studies in patients with congenital heart diseases between 2002and 2008 was completed. Children and adults were included. Preoperative evaluation and or post surgical findingswere analyzed. Anatomical and functional studies were made and intravenous paramagnetic contrast agents were used in the selected cases.Results: 180 MRI studies were analyzed. The most frequent indication was corrected Fallot's Tetralogy followed by anomalous pulmonary venous connection, left ventricular non compaction and coarctation of the aorta. Flow dynamics studies were successfully performed in several cases. Conclusion: Cardiac MRI demonstrates anatomical details with excellent contrast resolution and allows functionaland flow dynamics studies.