Congenital hepatoblastoma: Expanding knowledge, improving outcomes.

Hepatoblastoma (HB) is a rare liver tumour, and its congenital counterpart (CHB) is even less frequent. CHB has a clinically challenging management and a generally perceived worse outcome. This study aims to review the literature on CHB to better define presentation, diagnosis, available treatments and management options. The analysis of outcomes suggests that a significant portion of mortality is unrelated to the malignant nature of the tumour. Key factors influencing overall outcomes were identified: mortality linked to the 'mass effect' during both the prenatal (22%) and perinatal (32%) stages, as well as 'oncological' mortality encompassing tumour and/or treatment-related factors (46%). Overall, after birth, CHB does not seem to confer a worse oncological prognosis per se, and should be managed similarly to older children, if patients are stable enough to undergo proper staging and treatment. A deeper knowledge and better outcomes would come from a large, homogeneous, collection of data possibly allowing a global protocol, focusing on a comprehensive management of CHB.

Diagnosis and Management of Congenital H-Type Tracheoesophageal Fistula: Results of a National Survey.

BACKGROUND: Congenital h-type tracheoesophageal fistula (H-TEF) without esophageal atresia (EA) represents about 4% of congenital esophageal anomalies. The diagnosis is challenging, and surgery is considered curative. The aim was to report a national survey on the diagnosis, management, and outcome of patients with congenital H-TEF. METHODS: Following approval of the Italian Society of Pediatric Surgery, a survey was sent to all Pediatric Surgery Units to retrospectively collect H-TEF treated in the period 2010-2022. Descriptive analysis was performed, and results are given as prevalence, mean ± standard deviation (SD), or median and interquartile range (IQR). RESULTS: The survey was sent to 65 units. Seventeen responded with one or more cases; 78 patients were diagnosed with H-TEF during the study period. Associated malformations were present in 43%, mostly cardiac (31%). The most frequent symptoms were cough (36%), bronchopneumonia (24%), and dysphagia (19%). H-TEF was detected by tracheobronchoscopy (90%), and/or upper GI (58%), and/or esophagoscopy (32%). The median age at diagnosis was 23 days (1 day-18 years). The most common approach was cervicotomy (76%), followed by thoracoscopy (14%) and thoracotomy (9%). The fistula underwent ligation and section of the fistula in 90% of the patients and clip closure and section in 9%. In one patient, the fistula was cauterized endoscopically. H-TEF preoperative cannulation was performed in 68% of cases, and a drain was placed in 26%. One month after surgery, 13% of the patients had mild persisting symptoms, mainly hypophonia. Recurrence occurred in 5%, and a second recurrence occurred in 1%. CONCLUSIONS: H-TEF prevalence was six cases/year, consistent with the expected rate of five cases/year in our country. The diagnosis was challenging, sometimes delayed, and, in most patients, required multiple examinations. Fistula ligation and section through cervicotomy were the most frequent treatment. Long-term outcomes are good, and recurrence is a rare event.

Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.

Intradiaphragmatic pulmonary sequestrations: a surgical challenge. Case series.

Bronchopulmonary sequestrations (BPSs) are rare congenital anomalies characterized by non-functioning embryonic lung tissue receiving anomalous blood supply. They are most commonly located within the thorax (supradiaphragmatic) or into the abdominal cavity (infradiaphragmatic). Intradiaphragmatic extralobar BPs (IDEPS) are an exceptionally rare finding, representing a diagnostic and operative challenge. We report three cases of IDEPS and their surgical management, describing our experience and approach to such rare clinical entities. From 2016 to 2022, we treated 3 cases of IDEPS. Surgical techniques, histopathological findings and clinical outcomes were retrospectively evaluated for each case and compared. Three different surgical techniques were used to approach each lesion, from open thoracotomy to a combined laparoscopic and thoracoscopic approach. Histopathological analysis of the specimens revealed hybrid pathological features, proper of both congenital pulmonary airway malformation (CPAM) and extralobar pulmonary sequestration. IDEPS represent a surgical challenge for pediatric surgeons, given their complex surgical planning. In our experience, the thoracoscopic approach is safe and feasible when performed by trained surgeons, even though a combined thoracoscopic-laparoscopic approach allows for optimal vessels control. The presence of CPAM elements within the lesions supports their surgical removal. Additional studies are required to better characterize IDEPS and their management.

Brain cortical assessment by MRI in fetuses with left congenital diaphragmatic hernia.

OBJECTIVE: To evaluate fetal brain development using MRI (magnetic resonance imaging) in CDH (congenital diaphragmatic hernia). METHODS: 52 isolated left CDH and 104 control fetuses were imaged using MRI. Brain morphometry (Biparietal diameter-BPD, brain fronto-occipital diameter-BFOD, third ventricle, posterior ventricles, transcerebellar diameter-TCD, anteroposterior and craniocaudal cerebellar vermis diameter-AP and CC) and cortical structures (bilateral cingulate fissure-CF, insular fissure-IF, insular depth - ID) were compared with controls using Mann-Whitney test. RESULTS: Median gestational age at MRI (p = 0.95)and the median biparietal diameter (p = 0.737) were comparable. Among morphometric parameters, only the brain fronto-occipital diameter was significantly smaller in CDH (p = 0.001) and the third ventricle was significantly greater in CDH (<0.0001). Among cortical structures, the cingulate and insular fissures were significantly deeper in CDH fetuses (p < 0.0001) as the insular depth ID was smaller in CDH (p < 0.03). CONCLUSIONS: CDH fetuses have a smaller fronto-occipital diameter, reduced insular depth, deeper cingulate and insular fissure, and greater third ventricle width as compared to controls. These findings suggest that left CDH may have an impact on fetal brain development with an overall reduction in brain volume.

Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.

Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%. Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed. Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest.

Unexpected Pediatric Uretero-Inguinal Hernia: Case-Report and Literature Review.

Uretero-inguinal hernia (UIH) is a rare condition in children. We present our experience with an unexpected UIH in a male infant with associated anomalies and a literature review of pediatric cases. A full-term male newborn was referred to our hospital for microcolon and right hydroureteronephrosis. Voiding cystourethrography showed grade-IV right vesicoureteral reflux and a dilated, convoluted, ureter protruding in the right inguinal canal, suggesting a right UIH, which was uneventfully repaired at 2 months of life. UIH is a rare type of inguinal hernia in children that pediatric urologists and surgeons should be aware of. In experienced hands, and when preoperatively suspected, surgical management is safe and effective.

Unsolved problems in CDH follow-up.

In patients affected by CDH, survival beyond the neonatal period continues to increase thanks to technological and pharmacological improvements. Conversely, patients, families and caregivers are more and more frequently facing "new" complex late comorbidities, including chronic pulmonary and cardiac dysfunctions, neurodevelopmental challenges, and specific nutritional requirements, that often require ongoing long-term medical or surgical care. Therefore, late morbidity is now a key focus in clinical care of CDH. The aims of this paper are to stress some of the most important "unsolved problems" for CDH patients at long-term follow-up.

The Management of Asymptomatic Congenital Pulmonary Airway Malformation: Results of a European Delphi Survey.

Consensus on the optimal management of asymptomatic congenital pulmonary airway malformation (CPAM) is lacking, and comparison between studies remains difficult due to a large variety in outcome measures. We aimed to define a core outcome set (COS) for pediatric patients with an asymptomatic CPAM. An online, three-round Delphi survey was conducted in two stakeholder groups of specialized caregivers (surgeons and non-surgeons) in various European centers. Proposed outcome parameters were scored according to level of importance, and the final COS was established through consensus. A total of 55 participants (33 surgeons, 22 non-surgeons) from 28 centers in 13 European countries completed the three rounds and rated 43 outcome parameters. The final COS comprises seven outcome parameters: respiratory insufficiency, surgical complications, mass effect/mediastinal shift (at three time-points) and multifocal disease (at two time-points). The seven outcome parameters included in the final COS reflect the diversity in priorities among this large group of European participants. However, we recommend the incorporation of these outcome parameters in the design of future studies, as they describe measurable and validated outcomes as well as the accepted age at measurement.

European Pediatric Surgeons' Association Survey on the Use of Splenic Embolization in Blunt Splenic Trauma in Children.

INTRODUCTION: This article assesses (1) access to splenic embolization (SE), (2) indications for SE, and (3) post-embolization management in high-grade splenic trauma in children. MATERIALS AND METHODS: An online questionnaire was sent in 2021 to all members of European Pediatric Surgeons' Association. RESULTS: There were a total of 157 responses (50 countries, 83% academic hospitals). Among them, 68% have access to SE (SE) and 32% do not (nSE). For a hemodynamic stable patient with high-grade isolated splenic trauma without contrast extravasation (CE) on computed tomography (CT) scan, 99% SE and 95% nSE respondents use nonoperative management (NOM). In cases with CE, NOM decreases to 50% (p = 0.01) and 51% (p = 0.007) in SE and nSE centers, respectively. SE respondents report a significant reduction of NOM in stable patients with an associated spine injury requiring urgent surgery in prone position, both without and with CE (90 and 28%, respectively). For these respondents, in stable patients the association of a femur fracture only tends to decrease the NOM, both without and with CE (93 and 39%, respectively). There was no significant difference in NOM in group nSE with associated injuries with or without CE. After proximal SE with preserved spleen vascularization on ultrasound Doppler, 44% respondents prescribe antibiotics and/or immunizations. CONCLUSION: Two-thirds of respondents have access to SE. For SE respondents, SE is used even in stable patients when CE showed on initial CT scan and its use increased with the concomitant need for spinal surgery. There is currently a variation in the use of SE and antibiotics/immunizations following SE.

Case Report: Congenital Perineal Lipoma Associated With Additional External Genitalia Anomalies.

Perineal lipoma is an uncommon congenital benign tumor sometimes associated with genitourinary or anorectal malformations. Accessory scrotum and accessory labioscrotal fold are infrequent features, often concurrent with perineal tumors. We describe a single institution experience with three consecutive cases of perineal lipoma associated with external genital anomalies, and a literature review.

Pediatric Surgical Care During the COVID-19 Lockdown: What Has Changed and Future Perspectives for Restarting in Italy. The Point of View of the Italian Society of Pediatric Surgery.

Background: The coronavirus disease 2019 (COVID-19) time exacerbated some of the conditions already considered critical in pediatric health assistance before the pandemic. A new form of pediatric social abandonment has arisen leading to diagnostic delays in surgical disorders and a lack of support for the chronic ones. Health services were interrupted and ministerial appointments for pediatric surgical healthcare reprogramming were postponed. As a result, any determination to regulate the term "pediatric" specificity was lost. The aim is, while facing the critical issues exacerbated by the COVID-19 pandemic, to rebuild future perspectives of pediatric surgical care in Italy. Methods: Each Pediatric Society, including the Italian Society of Pediatric Surgery (SICP), was asked by the Italian Federation of Pediatric Associations and Scientific Societies to fill a questionnaire, including the following the main issues: evaluation of pre-pandemic criticalities, pediatric care during the pandemic and recovery, and current criticalities. The future care model of our specialty was analyzed in the second part of the questionnaire. Results: Children are seriously penalized both for surgical treatment as well as for the diagnostic component. In most centers, the pediatric surgical teams have been integrated with the adult ones and the specificity of training the pediatric operating nursing is in danger of survival. "Emotional" management of the child is not considered by the general management and the child has become again an adults patient of reduced size. Conclusion: A new functional pediatric surgical model needs to be established in general hospitals, including activities for day surgery and outpatient surgery. To support the care of the fragile child, a national health plan for the pediatric surgery is required.

Image-based prenatal predictors correlate with postnatal survival, extracorporeal life support use, and defect size in left congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the association between prenatal imaging predictors of patients with left-sided congenital diaphragmatic hernia (LCDH) and postnatal outcomes. STUDY DESIGN: CDH study group data were reviewed for LCDH infants born 2015-2019. Prenatal ultrasound (US) and magnetic resonance imaging (MRI) data were collected and correlated with postnatal information including CDHSG defect size (A through D or non-repair (NR)). RESULTS: In total, 929 LCDH patients were included. Both US and MRI imaging predictors correlated with postnatal survival (72.2%) and ECLS use (29.6%). Logistic regression models confirmed increased survival and decreased ECLS use with larger values for all predictors. Importantly, all prenatal values evaluated showed no significant difference between defect size D and NR patients. CONCLUSIONS: This is the largest cohort of LCDH patients and demonstrates that prenatal imaging factors correlate with postnatal outcomes and confirms that patients in the non-repair group are prenatally similar to type D defects.

Surgical Management of Pediatric Inguinal Hernia: A Systematic Review and Guideline from the European Pediatric Surgeons' Association Evidence and Guideline Committee.

INTRODUCTION: Inguinal hernia repair represents the most common operation in childhood; however, consensus about the optimal management is lacking. Hence, recommendations for clinical practice are needed. This study assesses the available evidence and compiles recommendations on pediatric inguinal hernia. MATERIALS AND METHODS: The European Pediatric Surgeons' Association Evidence and Guideline Committee addressed six questions on pediatric inguinal hernia repair with the following topics: (1) open versus laparoscopic repair, (2) extraperitoneal versus transperitoneal repair, (3) contralateral exploration, (4) surgical timing, (5) anesthesia technique in preterm infants, and (6) operation urgency in girls with irreducible ovarian hernia. Systematic literature searches were performed using PubMed, MEDLINE, Embase (Ovid), and The Cochrane Library. Reviews and meta-analyses were conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) statement. RESULTS: Seventy-two out of 5,173 articles were included, 27 in the meta-analyses. Laparoscopic repair shortens bilateral operation time compared with open repair. In preterm infants, hernia repair after neonatal intensive care unit (NICU)/hospital discharge is associated with less respiratory difficulties and recurrences, regional anesthesia is associated with a decrease of postoperative apnea and pain. The review regarding operation urgency for irreducible ovarian hernia gained insufficient evidence of low quality. CONCLUSION: Laparoscopic repair may be beneficial for children with bilateral hernia and preterm infants may benefit using regional anesthesia and postponing surgery. However, no definite superiority was found and available evidence was of moderate-to-low quality. Evidence for other topics was less conclusive. For the optimal management of inguinal hernia repair, a tailored approach is recommended taking into account the local facilities, resources, and expertise of the medical team involved.

Growth and morbidity in infants with Congenital Diaphragmatic Hernia according to initial lung volume: A pilot study.

Background In congenital diaphragmatic hernia (CDH) survivors, failure to thrive is a well-known complication, ascribed to several factors. The impact of lung volume on growth of CDH survivors is poorly explored. Our aim was to evaluate if, in CDH survivors, lung volume (LV) after extubation correlates with growth at 12 and 24 months of life. Methods LV (measured as functional residual capacity-FRC) was evaluated by multibreath washout traces with an ultrasonic flowmeter and helium gas dilution technique, shortly after extubation. All CDH survivors are enrolled in a dedicated follow-up program. For the purpose of this study, we analyzed the correlation between FRC obtained shortly after extubation and anthropometric measurements at 12 and 24 months of age. We also compared growth between infants with normal lungs and those with hypoplasic lungs according to FRC values. A p < 0.05 was considered as statistically significant. Results We included in the study 22 CDH survivors who had FRC analyzed after extubation and auxological follow-up at 12 and 24 months of age. We found a significant correlation between FRC and weight Z-score at 12 months, weight Z-score at 24 months and height Z-score at 24 months. We also demonstrated that CDH infants with hypoplasic lungs had a significantly lower weight at 12 months and at 24 months and a significantly lower height at 24 months, when compared to infants with normal lungs. Conclusion We analyzed the predictive value of bedside measured lung volumes in a homogeneous cohort of CDH infants and demonstrated a significant correlation between FRC and growth at 12 and 24 months of age. An earlier identification of patients that will require an aggressive nutritional support (such as those with pulmonary hypoplasia) may help reducing the burden of failure to thrive.

European Pediatric Surgeons' Association Survey on the Management of Primary Spontaneous Pneumothorax in Children.

AIM: To evaluate the practice patterns of the European Pediatric Surgeons' Association (EUPSA) members regarding the management of primary spontaneous pneumothorax (PSP) in children. METHODS: An online survey was distributed to all members of EUPSA. RESULTS: In total, 131 members from 44 countries participated in the survey. Interventional approach (78%) is the most common choice of treatment in the first episode, and most commonly, chest tube insertion (71%) is performed. In the case of a respiratory stable patient, 60% of the responders insert chest tubes if the pneumothorax is more than 2 cm. While 49% of surgeons prefer surgical intervention in the second episode, 42% still prefer chest tube insertion. Main indications for surgical treatment were the presence of bullae more than 2 cm (77%), and recurrent pneumothorax (76%). Eighty-four percent of surgeons prefer thoracoscopy and perform excision of bullae with safe margins (91%). To prevent recurrences, 54% of surgeons perform surgical pleurodesis with pleural abrasion (55%) and partial pleurectomy (22%). The responders who perform thoracoscopy use more surgical pleurodesis and prefer shorter chest tube duration than the surgeons performing open surgery (p < 0.05). CONCLUSION: Most of the responders prefer chest tube insertion in the management of first episode of PSP and perform surgical treatment in the second episode in case of underlying bullae more than 2 cm and recurrent pneumothorax. The surgeons performing thoracoscopy use more surgical pleurodesis and prefer shorter chest tube duration than the responders performing open surgery. The development of evidence-based guidelines may help standardize care and improve outcomes in children with PSP.

Case Report: Massive Intestinal Pneumatosis and Pneumoretroperitoneum Following Hematopoietic Stem Cell Transplantation in a 2-Year-Old Child.

A 2-year-old boy with severe combined immunodeficiency (SCID) developed intestinal graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation (HSCT), associated with massive intestinal pneumatosis (IP), pneumoretroperitoneum (PRP), and pneumomediastinum. His fair clinical conditions allowed conservative management, with progressive normalization of imaging findings. The patient did not require surgery and is alive and in good clinical conditions at follow-up. In children with GVHD-related IP but good clinical conditions and no signs of peritonitis, IP is not a mandatory indication for surgery, despite its potentially striking imaging features. Conservative management, with intestinal rest, decompression, and antibiotics, often allows regression of the clinical picture.

Assisted Reproductive Technology and Anorectal Malformation: A Single-Center Experience.

Background: Assisted reproductive technologies (ART) are becoming widespread, accounting for approximately 2% of all births in the western countries. Concerns exist on the potential association of ART with congenital anomalies. Few studies have addressed if a relationship exists between ART and the development of anorectal malformation (ARM). Our aim was to analyze the relationship between ARM and ART. Methods: Single-center retrospective case control study of all patients treated for ARM between 2010 and 2017. Patients with bronchiolitis treated since 2014 were used as controls. Variables analyzed include the following: prevalence of ART, gestational age, birth weight, and maternal age. Patients with ARM born after ART were also compared with those naturally conceived for disease complexity. Fisher's exact and Mann-Whitney U-tests were used as appropriate. Results: Three hundred sixty-nine patients were analyzed (143 cases and 226 controls). Prevalence of ART was significantly higher in ARM patients than in controls [7.6 vs. 3.0%; odds ratio: 2.59 (95% CI, 0.98-0.68); p = 0.05]. Among ARM patients, incidence of VACTERL association (17%) is more frequent in ART babies. Conclusion: Patients with ARM were more likely to be conceived following ART as compared with controls without congenital anomalies. Disease complexity of patients with ARM born after ART seems greater that those born after nonassisted conception.

Operative Management of Neonatal Lymphatic Malformations: Lesson Learned From 57 Consecutive Cases.

Aim of the study: Lymphatic malformations (LMs) are rare entities, sometimes difficult to treat, that may be life-threatening when intricately connected to airway structures. Invasive treatments are occasionally required, with sclerotherapy considered the treatment of choice and surgery as a second-line approach. The aim of the present study was to evaluate our multidisciplinary team experience in treating newborns affected by LMs requiring operative management, while defining early outcomes. Methods: Retrospective review of all consecutive patients admitted for LMs requiring operative management between January 2000 and January 2019. Patients were mainly characterized based on anatomical district of the LM (and further stratified based on the development of respiratory distress), need for tracheostomy, number of sclerotherapies, indication for surgery, and residual disease beyond the 1st year. Morbidity and mortality were also evaluated. Fisher exact test and Mann-Whitney test were used as appropriate. Statistical significance was set at p < 0.05. Results: Fifty-seven patients were included in the study, 36 with cervicofacial and/or mediastinal LMs and 21 with LMs of other anatomical districts. Due to the risk of developing respiratory distress at birth, patients with cervicofacial and/or mediastinal LMs were divided into two groups (8/36 group A vs. 28/36 group B). Group A patients are at higher risk for tracheostomy (7/8 group A vs. 1/28 group B, p = 0.0001) and more often require surgical reduction of the residual lymphatic abnormality (5/8 group A vs. 4/28 group B, p = 0.013). They also require sclerotherapies more often, but the difference is not statistically significant (8/8 group A vs. 19/28 group B, p = 0.15). Patients with cervicofacial/mediastinal LMs frequently suffer from persistent residual disease beyond the 1st year of life, significantly more often in group A (7/8 group A vs. 12/28 group B, p = 0.043). Conclusion: LMs are rare conditions with potential life-threatening behavior. Their intrinsic clinical complexity requires a multidisciplinary approach to the affected patients. Planning a long-term follow-up is essential because of the late-term problems those patients may experience.