Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to embryonal tumor, lateralized overgrowth, and leg length discrepancy (LLD), which can affect normal posture and gait. Aim of this study was to evaluate the effects of guided growth (temporary epiphysiodesis technique) as LLD management in BWS patients. Between 2007 and 2021, 22 BWS patients (15 F, 7 M) with a mean age of 7.9 years (2.9–14.4) and a mean LLD at first surgery of 3.65 cm (2–10), underwent temporary proximal tibial (PTE) and distal femur epiphysiodesis (DFE). In 18 patients the first surgical procedure was PTE, in one, DFE, and in 3 cases, PTE and DFE at the same time, respectively. Eleven patients reached equality of leg length after a mean follow-up of 7.7 years (3.7–13.0) and mean age of 13.3 years (12.7–27.5); 10 patients underwent 3 surgical procedures, one 7 procedures. Fifteen patients had no complications. No severe complications, infection, articular stiffness, or neuro-vascular lesions occurred in remaining patients; complications included secondary varus or valgus axial deviation in a total of 6 patients, and two screw breakages in two patients. Guided growth as a minimally invasive procedure seems efficient for LLD treatment with low complication rate in BWS patients.

Background: Currently, there is a lack of data regarding the reliability of different anthropometric, instrumental, and biochemical indexes in detecting metabolic syndrome (MetS) in pediatric patients with Prader–Willi syndrome (PWS). Therefore, this study aimed to compare the accuracy of different indices to identify the simplest and most accurate predictor of MetS in this at-risk population. Methods: We conducted a multicenter study involving 124 children and adolescents with PWS (61 males and 63 females), aged 13.6 ± 3.7 years. For each participant, we assessed all components of MetS, defined according to either the Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS (IDEFICS) study or the International Diabetes Federation (IDF) criteria, based on age. The following indexes were calculated: Body Mass Index (BMI), BMI standard deviation score (BMI-SDS), tri-ponderal mass index, body mass fat index, fat mass index, fat-free mass index, body shape index, visceral adiposity index, waist-to-height ratio, cardiometabolic index, total cholesterol/high-density lipoprotein cholesterol (HDL-C) ratio, and triglycerides/HDL-C (TG/HDL-C) ratio. Results: MetS was identified in 24 subjects (9 females and 15 males), representing 19.4% of the sample. When comparing the receiver operating characteristic (ROC) curves, the TG/HDL-C ratio and cardiometabolic index demonstrated significantly better performance than the other indices in detecting MetS, with no difference between the two. As a result, we focused on the TG/HDL-C ratio since it is the simplest measure, requiring no additional anthropometric data compared to the cardiometabolic index. Additionally, applying age- and gender-specific thresholds can further improve its accuracy. Conclusions: The TG/HDL-C ratio, which requires only two standard biochemical markers, provides the same accuracy as more complex indexes in detecting MetS in children and adolescents with PWS, making it the optimal predictor for MetS in this population.

Childhood obesity is a major global health concern with a strong heritable component. While most cases are polygenic and environmentally driven, a subset of children present with rare genetic forms of obesity, including syndromic and monogenic disorders. Over the past three decades, advances in gene discovery—from candidate gene studies to genome-wide association studies (GWAS) and next-generation sequencing (NGS)—have significantly improved our understanding of the biological pathways regulating appetite and energy balance, particularly the leptin–melanocortin pathway. Early identification of genetic obesity is clinically relevant, as it allows tailored management, targeted pharmacological interventions, genetic counselling, and reduction of psychosocial stigma. However, distinguishing rare genetic obesity from common polygenic obesity remains challenging in clinical practice. This review summarizes the current knowledge on the genetic architecture of pediatric obesity, highlights red flags suggestive of monogenic and syndromic forms, discusses available diagnostic algorithms and genetic testing strategies, and explores the transition from gene discovery to precision medicine. The integration of genetic, epigenetic, and environmental data will be crucial to refine risk prediction and therapeutic strategies in the pediatric population.

BACKGROUND Diazoxide is the sole approved drug for congenital hyperinsulinism; however, diuretic administration and vigilant monitoring are crucial to prevent and promptly identify potentially life-threatening adverse effects. This report aims to highlight a seldom-considered rare side effect of diazoxide. We believe that this brief report is of general interest to World Journal of Clinical Pediatric readership and increase the physicians’ awareness of the guideline importance. Moreover, it underlines the importance of stopping immediately the drug if suspected side effects. CASE SUMMARY The manuscript describes a patient diagnosed with congenital hyperinsulinism (CHI) treated with diazoxide not overlapping with diuretic. He resulted in sudden respiratory distress and therefore was transferred to the Neonatal Intensive Care Unit. The cardiological evaluation showed pericardial effusion and left ventricular myocardial hypertrophy, absent before. In suspicion of an iatrogenic effect of diazoxide it was progressively reduced until stop while introducing diuretic treatment, with resolution of symptoms. Once clinically stabilized, an 18 fluoro-diydroxy-phenylalanine positron emission tomography/computed tomography (PET/CT) was performed to differentiate between a focal or diffuse form of CHI. The PET/CT highlighted the presence of a single focal accumulation of the tracer located in the pancreatic tail, consistent with a focal form of hyperinsulinism. At the age of four months, the patient underwent a distal pancreatectomy with histological confirmation of a focal form of nesidioblastosis, resulting in a curative operation. CONCLUSION Diuretic administration and vigilant monitoring of diazoxide therapy are crucial to prevent and promptly identify potentially life-threatening adverse effects.