Girolamo Mattioli

Congenital anomalies of the kidney and urinary tract (CAKUT) are among the leading causes of chronic kidney disease in children. Early and accurate evaluation is essential to preserve nephron mass and guide appropriate management. Ultrasound represents the first-line imaging modality and acts as the gatekeeper for further diagnostic investigations, while vesicoureteral reflux should be evaluated with voiding cystourethrography or contrast-enhanced voiding urosonography. Functional magnetic resonance urography (functional MRU) is an advanced, non-ionizing “one-stop-shop” imaging technique that combines detailed anatomical assessment with quantitative functional evaluation. By using dynamic contrast-enhanced sequences and dedicated post-processing software, functional MRU enables comprehensive assessment of renal morphology, differential renal function, urinary drainage, excretory patterns, and urinary flow. Compared with renal scintigraphy, which has traditionally been used to evaluate split renal function and urinary drainage, functional MRU offers superior anatomical detail without exposing children to ionizing radiation. In pediatric practice, functional MRU has shown particular value in the assessment of CAKUT, especially in children with complex or bilateral anomalies, supporting surgical planning, treatment selection, and postoperative follow-up. Its ability to provide detailed functional characterization and longitudinal monitoring makes functional MRU a promising tool for personalized management. This review provides a practical guide for radiologists on the clinical applications of functional MRU in CAKUT evaluation. Graphical Abstract

Background: Lung resections in children are rare but critical for congenital lung malformations (CLMs) and acquired pathologies; few studies have analyzed the full spectrum of indications. This study evaluated indications, complications, outcomes, and temporal trends in a tertiary pediatric center. Methods: We retrospectively analyzed patients who underwent lung resection (2012–2024), focusing on indications, approaches, complications, and outcomes. Comparisons between pathologies (CLMs vs. acquired pathologies), approaches (thoracoscopy vs. thoracotomy), an temporal trends were evaluated. Results: Among 160 patients (mean age: 7.8 years), acquired lesions (68.6%) were more common than CLMs (31.4%), predominating in children under 8 years. Compared with thoracotomy, thoracoscopy (72.8% of cases, conversion rate: 22.8%) was correlated with shorter operative times (p < 0.001) and hospital stays (p = 0.001). The complication rate was 19.5%, with 71.9% of patients achieving disease-free, asymptomatic status at follow-up. Risk factors for conversion from thoracoscopy to open surgery included intraoperative adhesions (p = 0.003), underlying pathology (p = 0.013), and age < 8 years (p = 0.017). Compared with acquired lesions, CLMs were associated with fewer complications (14.3% vs. 23.1%, p = 0.041) and more favorable outcomes (89.2% vs. 64.7%; p < 0.05). Over time, the use of thoracoscopy increased (p = 0.012), with reduced operative time (p = 0.005); complication and outcome rates remained stable. Conclusions: Pediatric lung resections address diverse pathologies; outcomes are linked to the pathology, and CLMs are associated with lower complication rates in our cohort. Thoracoscopy has progressively become the preferred approach in the last decade, offering advantages particularly in postoperative recovery, though its success depends on careful, pathology-driven patient selection.

Article: Surgical validation of functional magnetic resonance urography in the study of ureteral anomalies distal to the uretero-pelvic junction in a pediatric cohort - Minerva Pediatrics 2022 Jan 26 - Minerva Medica - Journals

Purpose: Pediatric-onset Crohn's disease (CD) presents with a more aggressive course than adults. Surgical treatment is still necessary in many patients. The laparoscopic technique for treating terminal ileal CD is deemed safe and feasible, with the advantage to perform an intra-corporeal anastomosis (ICA). The robotic platform facilitates ICA creation thanks to 3D-visualization, tenfold magnification and better dexterity. The aim of this study was to report our initial experience of robotic ileocecal resection (RICR) with ICA in children with CD. Methods: Six patients underwent RICR for CD. Patient characteristics, intraoperative details, and postoperative outcomes were collected. The surgical technique consisted in an intra-corporeal ICR with a stapled side-to-side ileo-colic anastomosis. Results: The mean age at surgery was 14.8 years. The mean operative time was 210.8 min. No intraoperative complications or conversions were recorded. Bowel function returned on postoperative day 3 and the mean hospital stay was 8 days. Two minor complications were treated conservatively and 1 major (anastomotic dehiscence) required reoperation. Conclusion: RICR is a safe and feasible technique in pediatric CD of terminal ileum. The robot offers advantages over other techniques for the precision of the suture, avoiding extracorporeal anastomosis. However, larger studies are needed to confirm these preliminary results.

A 15-year-old girl was admitted to the Pediatric Emergency Department due to abdominal discomfort, anorexia, diarrhea, emesis, and weight loss. An inflammatory bowel disease diagnosis was suspected and a complete endoscopic investigation was deemed necessary. Initially, only colonoscopy with ileoscopy was performed, with evidence of widespread ileal ulcers, whereas a subsequent esophagogastroduodenoscopy revealed a huge trichobezoar that was further surgically removed. Trichobezoars are intraluminal conglomerates composed of ingested hair and are typically associated with underlying psychiatric disorders. Bezoars can be asymptomatic or present with various gastrointestinal symptoms, mimicking, among other conditions, inflammatory bowel disease. They may extend through the pylorus into the jejunum leading to Rapunzel Syndrome, which may cause intestinal obstruction. The treatment of trichobezoar depends on its location and volume. An endoscopic approach is possible for small-sized trichobezoars, but to avoid bezoar tail migration along the intestine, causing obstruction, conventional laparotomy is the only valid treatment for patients with Rapunzel Syndrome. Due to the increasing incidence of psychiatric disorders in pediatric age during the SARS-CoV-2 pandemic and their relationship with trichobezoars, an increase in cases of trichobezoars was observed. Thus, interdisciplinary collaboration between psychiatrists, pediatricians, and surgeons is crucial not only during the acute phase but also for long-term management and prevention of recurrence.

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reported, especially the pectus excavatum (PE). Over the years, several authors have suggested loss of heterozygosity (LOH) as the possible pathogenic mechanism underlying the development of the typical NF1 skeletal features. Here, we report a NF1 patient with severe chest deformity and harboring the germline heterozygous pathogenic NF1 variant NM_001042492.3: c.4271delC p.(Ala1424Glufs4). Through next-generation sequencing (NGS), we investigated the affected cartilage from the PE deformity and identified the additional frameshift variant NM_001042492.3: c.2953delC p.(Gln985Lysfs7), occurring as a somatic NF1 second hit mutation. Exome sequencing confirmed the absence of additional variants of potential pathogenic relevance. Western blot analysis showed the absence of wild-type NF1 protein in the cartilage of the patient, consistent with a somatic double inactivation (SDI) of NF1. Taken together, our findings support the role of SDI in NF1-related PE, widening the spectrum of the pathophysiological mechanisms involved in NF1-related skeletal features.

This study reports the outcomes of an enhanced recovery after surgery (ERAS) protocol in pediatric inflammatory bowel disease (IBD) surgery. Children who underwent surgery for IBD at two academic referral centers from January 2016 to June 2021 were included. Preoperative counseling, early enteral feeding (Impact^®, Nestlé Health Science, and early mobilization were all part of the ERAS protocol. The outcomes (timing of first defecation, postoperative complications, and length of hospital stay (LOS)) were compared to traditional perioperative regimens (non-ERAS group). Thirty-three children who had 61 abdominal surgeries for IBD were included. Forty (65.5%) surgical procedures were included in the non-ERAS group, and 21 (34.5%) were included in the ERAS group. The postoperative complication rate was significantly lower in the ERAS group than in the non-ERAS group (29.6% vs. 55%, p = 0.049). The first defecation occurred earlier in the ERAS group than in the non-ERAS group (p < 0.001). There was no significant intergroup difference in the LOS. The implementation of ERAS in pediatric IBD surgery resulted in better outcomes than traditional perioperative care, especially in terms of postoperative complication rate and bowel function recovery. Further pediatric studies are needed to validate these findings and support ERAS application in children.

Pediatric cholelithiasis is being increasingly diagnosed owing to the widespread use of ultrasonography, raised pediatric obesity and use of long-time parenteral nutrition. Clinical presentation is variable and complicated onset could lead to severe consequences. The aim of this study is to present a 15-years-experience of a pediatric third-level-center in treating cholelithiasis. A retrospective study collecting children with gallstone operated on between 2006 and 2020 is presented. Demographic data, clinical presentation, sonographic findings, risk factors, surgery, complications, follow-up were evaluated. 199 patients were included. Twenty-nine patients (14.5%) with cholelithiasis had a complicated onset. Patients with cholelithiasis older than 10 years had a higher rate of symptomatic/complicated onset. Hemolytic disease was the most frequent co-morbidity (16.1%). Laparoscopic cholecystectomy was performed in 192 cases (96.5%) with a conversion rate of 1.6%. Nearly 1% showed a major post-operative complication after cholecystectomy. Cholelithiasis in patients older than 10 years can be safely treated with laparoscopic cholecystectomy, especially if one or more co-morbidities are present. Laparoscopic splenectomy can be easily associated in the same procedure depending on medical indication. Definition of pediatric surgical timing guidelines would be of quite interest in the field.