Randomized Trial of Fetal Surgery for Moderate Left Diaphragmatic Hernia.

BACKGROUND: Fetoscopic endoluminal tracheal occlusion (FETO) has been associated with increased postnatal survival among infants with severe pulmonary hypoplasia due to isolated congenital diaphragmatic hernia on the left side, but data are lacking to inform its effects in infants with moderate disease. METHODS: In this open-label trial conducted at many centers with experience in FETO and other types of prenatal surgery, we randomly assigned, in a 1:1 ratio, women carrying singleton fetuses with a moderate isolated congenital diaphragmatic hernia on the left side to FETO at 30 to 32 weeks of gestation or expectant care. Both treatments were followed by standardized postnatal care. The primary outcomes were infant survival to discharge from a neonatal intensive care unit (NICU) and survival without oxygen supplementation at 6 months of age. RESULTS: In an intention-to-treat analysis involving 196 women, 62 of 98 infants in the FETO group (63%) and 49 of 98 infants in the expectant care group (50%) survived to discharge (relative risk , 1.27; 95% confidence interval [CI], 0.99 to 1.63; two-sided P = 0.06). At 6 months of age, 53 of 98 infants (54%) in the FETO group and 43 of 98 infants (44%) in the expectant care group were alive without oxygen supplementation (relative risk, 1.23; 95% CI, 0.93 to 1.65). The incidence of preterm, prelabor rupture of membranes was higher among women in the FETO group than among those in the expectant care group (44% vs. 12%; relative risk, 3.79; 95% CI, 2.13 to 6.91), as was the incidence of preterm birth (64% vs. 22%, respectively; relative risk, 2.86; 95% CI, 1.94 to 4.34), but FETO was not associated with any other serious maternal complications. There were two spontaneous fetal deaths (one in each group) without obvious cause and one neonatal death that was associated with balloon removal. CONCLUSIONS: This trial involving fetuses with moderate congenital diaphragmatic hernia on the left side did not show a significant benefit of FETO performed at 30 to 32 weeks of gestation over expectant care with respect to survival to discharge or the need for oxygen supplementation at 6 months. FETO increased the risks of preterm, prelabor rupture of membranes and preterm birth. (Funded by the European Commission and others; TOTAL ClinicalTrials.gov number, NCT00763737.).

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.

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.

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.

Autologous Intestinal Reconstructive Surgery in the Management of Total Intestinal Aganglionosis.

OBJECTIVES: Total/near total intestinal aganglionosis (TIA/NTIA) is the most uncommon and life-threatening form of Hirschsprung disease (HD). The management of TIA/NTIA is challenging and the role of autologous intestinal reconstructive (AIR) surgery is controversial. The objective is to evaluate the effectiveness of AIR in patients with TIA/NTIA. METHODS: Records from children affected by TIA and enrolled in the multicenter international Pediatric Intestinal Rehabilitation and Transplantation Registry were retrospectively reviewed. RESULTS: Fourteen patients with TIA were identified. TIA diagnosis was confirmed histologically at the median age of 14 days of life. All received a proximal decompressive jejunostomy. Two patients died, 4 patients had satisfactory stoma output with enteral tolerance without additional procedures, 8 underwent 10 AIR procedures (4 Ziegler myotomy-myectomy, 3 transposition of aganglionic ileum with or without myotomy, 2 simple tapering, 1 longitudinal lengthening and tailoring procedure with associated myotomy). AIR significantly reduced median stoma output, from 197 to 31 mL ·â€Škg ·â€Šday (P = 0.0001). The reduction was seen in all patients. In addition, AIR improved enteral tolerance in the long term in 5 of 8 patients (63%), and temporarily in 1, leading to a reduction of parenteral nutrition requirement from 100% to 70% (P = 0.0231). CONCLUSIONS: AIR surgery in carefully selected patients may be useful and effective way to enhance residual bowel absorptive function and to reduce parenteral nutrition requirements. AIR and intestinal transplantation are complementary surgical tools in the complex treatment algorithm of TIA/NTIA.

Impact of the associated anorectal malformation on the outcome of spinal dysraphism after untethering surgery.

PURPOSE: To analyze the outcome after untethering surgery in patients with spinal dysraphism (SD), with or without associated anorectal malformation (ARM). METHODS: Patients operated on for SD, with (Group A) or without (Group B) associated ARM (1999-2015), were included. The post-operative outcome was analyzed in the two groups in terms of improving of clinical symptoms (neuro-motor deficits, bladder dysfunction, bowel dysfunction) and of instrumental examinations (urodynamics, bladder ultrasound, neurophysiology). Fisher's exact test and χ2 test were used as appropriate; p < 0.05 was considered statistically significant. MAIN RESULTS: Ten patients in Group A and 24 in Group B were consecutively treated. One patient was lost at follow up. Six patients (25%) in Group B underwent prophylactic surgery. The analysis of the pre-operative symptoms in the two groups showed that a significantly higher number of patients in group A needed bowel management and presented with neuro-motor deficits, compared to group B (p = 0.0035 and p = 0.04, respectively). Group A showed a significant post-operative neuro-motor improvement as compared to group B (p = 0.002). CONCLUSIONS: Based on our results, untethering seems to be effective in neuro-motor symptoms in selected patients with ARM. In ARM patients, untethering surgery does not seem to benefit intestinal and urinary symptoms. The presence of the associated ARM does not seem to impact the medium-term outcome of patients operated for SD.

Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium.

Treatment modalities for neonates born with congenital diaphragmatic hernia (CDH) have greatly improved in recent times with a concomitant increase in survival. In 2008, CDH EURO consortium, a collaboration of a large volume of CDH centers in Western Europe, was established with a goal to standardize management and facilitate multicenter research. However, limited knowledge on long-term outcomes restricts the identification of optimal care pathways for CDH survivors in adolescence and adulthood. This review aimed to evaluate the current practice of long-term follow-up within the CDH EURO consortium centers, and to review the literature on long-term outcomes published from 2000 onward. Apart from having disease-specific morbidities, children with CDH are at risk for impaired neurodevelopmental problems and failure of educational attainments which may affect participation in society and the quality of life in later years. Thus, there is every reason to offer them long-term multidisciplinary follow-up programs. We discuss a proposed collaborative project using standardized clinical assessment and management plan (SCAMP) methodology to obtain uniform and standardized follow-up of CDH patients at an international level.

Couples Facing the Birth of a Newborn with a Congenital Anomaly: PTSD Symptoms in the First Year.

OBJECTIVE: The objective of this study was to assess the presence of posttraumatic stress disorder (PTSD) symptoms in parental couples of newborn requiring early surgery at 6 and 12 months after birth. STUDY DESIGN: A longitudinal study was set up from January 2014 to June 2015. As a measure of PTSD, we used the Italian version of the Impact of Event Scale-Revised (IES-R). RESULTS: Thirty-four couples form the object of the study. At 6 months, half of mothers (52.9%) and fathers (44.1%) reported traumatic stress symptoms above the clinical cutoff. Percentages remained stable at 12 months. When parental gender and length of follow-up were compared with two-factor analysis of variance, none had an impact on IES-R score, nor an interaction between these factors was found. A significant correlation of IES-R total score was present within the couple both at 6 and 12 months (6 months-r: 0.6842, p < 0.0001 and 12 months-r: 0.4045, p = 0.0177). CONCLUSION: Having a child with a repaired malformation represents a complex prolonged stressful situation with persistent burden for both parents who are at high risk of developing PTSD symptoms.

Does Ventilatory Time Retain Its Validity in Predicting Neurodevelopmental Outcome at Two Years of Age in High-Risk Congenital Diaphragmatic Hernia Survivors?

Objective To evaluate if in high-risk non-extracorporeal membrane oxygenation (ECMO)-treated congenital diaphragmatic hernia (CDH) survivors, ventilatory time (VT) is correlated to and can be used as clinical marker of neurodevelopmental delay at 2 years of age. Study Design Cohort study was conducted between 2008 and 2012. Mental, motor, and language development were assessed by the Bayley Scales of Infant and Toddler Development III. The correlation between VT and neurodevelopmental outcome (NDO) was analyzed using Pearson's test. Receiver operating characteristic (ROC) analysis was performed to determine the accuracy and best cutoff value of VT to predict the risk of neurodevelopmental delay. Statistical significance was set at p < 0.05. Results A total of 49 patients form the subject of this study. VT during first admission was inversely correlated with cognitive (r = -0.4116; p = 0.0033), motor (r = -0.4241; p = 0.0024), and language development (r = -0.3564; p = 0.0119). Using ROC curve analysis, VT was a significant predictor for neurodevelopmental delay in the cognitive (area under the curve [AUC]: 0.864, sensitivity: 100; specificity: 66.67; p < 0.0001) and motor (AUC: 0.902; sensitivity: 100; specificity: 73.17; p < 0.0001) scales, but not in the language scale. The best cutoff value for both scales was 9 days. Conclusion Within a population of high-risk non-ECMO-treated CDH survivors, VT appears to retain its validity as a clinical marker of adverse NDO in cognitive and motor domains.

Embryological and clinical implications of the association between anorectal malformations and spinal dysraphisms.

PURPOSE: To describe the association of anorectal malformation (ARM) and spinal dysraphism (SD) in terms of impact on the management of SD and embryogenetic implications. METHODS: Patients with SD associated with (A) or without (B) ARM were included. The two groups were further divided into operated on (A1/B1) or not (A2/B2) for SD. Groups A and B were compared for type of SD (embryogenetic classification) and prevalence of neurosurgery; Groups A1 vs. A2 for type of ARM (Wingspread classification); Groups A1 vs. B1 for age at neurosurgery, neurophysiology, and clinical symptoms. MAIN RESULTS: One hundred twenty-one patients with SD, 83 with and 38 without ARM were consecutively treated (1999-2015). Group A was associated only with SDs developing after primary neurulation, corresponding to the period of cloacal septation and organogenesis (p = 0.0007). Untethering surgery was significantly less frequent in Group A (p < 0.0001 and p = 0.04, respectively). Higher ARMs were not associated with increased risk for neurosurgery. No other significant differences were detected. CONCLUSIONS: In our series, ARMs were associated only with SD developing after primary neurulation, suggesting a single insult leading to both SD and the associated ARM. Neurosurgery is indicated less frequently in patients with ARM-associated SD, despite the similar preoperative clinical features.

Score for Neonatal Acute Physiology-II Predicts Outcome in Congenital Diaphragmatic Hernia Patients.

OBJECTIVE: Accurate and validated predictors of outcome for infants with congenital diaphragmatic hernia are needed. Score for Neonatal Acute Physiology-II has been validated to predict mortality in newborns. We investigated whether Score for Neonatal Acute Physiology-II scores in congenital diaphragmatic hernia could predict mortality, need for extracorporeal membrane oxygenation (in patients born in a center with extracorporeal membrane oxygenation availability), and development of bronchopulmonary dysplasia (oxygen dependency beyond 28 d after birth) in survivors. DESIGN: Data were obtained from a prospective, multicenter randomized controlled trial of initial ventilation strategy carried out by the Congenital Diaphragmatic Hernia EURO Consortium (NTR 1310). SETTING: ICUs of level III university children's hospitals. PATIENTS: Congenital diaphragmatic hernia infants without severe chromosomal anomalies or severe cardiac anomalies born between November 2008 and December 2013. INTERVENTIONS: Randomization for initial ventilation strategy (high-frequency oscillation/ conventional mechanical ventilation. MEASUREMENTS AND MAIN RESULTS: Logistic regression analyses were used to evaluate associations between Score for Neonatal Acute Physiology-II and outcome parameters. Of the 171 included patients, 46 died (26.9%), 40 of 108 (37.0%) underwent extracorporeal membrane oxygenation, and 39 of 125 survivors (31.2%) developed bronchopulmonary dysplasia. In nonsurvivors, the median Score for Neonatal Acute Physiology-II was 42.5 (interquartile range, 33.5-53.8) and 16.5 (interquartile range, 9.0-27.5) in survivors (p < 0.001). Score for Neonatal Acute Physiology-II also significantly differed between extracorporeal membrane oxygenation and non-extracorporeal membrane oxygenation-treated patients (p < 0.001), and survivors with and without bronchopulmonary dysplasia (p < 0.001). Multivariable logistic regression analyses adjusted for hernia side, liver position, ventilation mode, gestational age, center and observed-to-expected lung-to-head-ratio showed that Score for Neonatal Acute Physiology-II was associated with mortality (odds ratio, 1.16 [1.09-1.23]; p < 0.001) and need for extracorporeal membrane oxygenation support (odds ratio, 1.07 [1.02-1.13]; p = 0.01), but not for the development of bronchopulmonary dysplasia (odds ratio, 1.04 [0.99-1.09]; p = 0.14). CONCLUSIONS: The Score for Neonatal Acute Physiology-II predicts not only mortality but also need for extracorporeal membrane oxygenation in congenital diaphragmatic hernia patients. We, therefore, recommend to implement this simple and rapid scoring system in the evaluation of severity of illness in patients with congenital diaphragmatic hernia and thereby have insight into the prognosis within 1 day after birth.

Anorectal malformations associated spinal cord anomalies.

PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI). Children surgically treated or not for SCA were compared for age, clinical symptoms and type of anomalies at surgery or at last follow-up, respectively. Moreover, patients with intermediate/high ARMs, with or without SCA were compared for neurogenic bladder (NB), constipation, soiling and need for bowel management (BM). RESULTS: Two hundred and seventy-five children were treated for ARM in the study period, 142 had spinal MRI that showed SCA in 85. Patients with SCA had significantly higher prevalence of preterm birth (p < 0.05), cardiac anomalies (p = 0.02), vertebral anomalies (p = 0.0075), abnormal sacrum (p < 0.0001), and VACTERL association (p = 0.0233). Ten patients were surgically treated for SCA. The prevalence of neurological bladder and neuro-motor deficits, of vertebral and genital anomalies, particularly cryptorchidism, was significantly higher in the operated group (p < 0.01, for each analysis). In patients with intermediate/high ARMs, no significant difference was observed between those with or without SCA, in terms of prevalence of NB, intestinal function and need for BM. CONCLUSIONS: In patients with ARM, factors that can predict a higher prevalence of SCA and also determine an increased indication to neurosurgery may be identified. SCA by itself does not seem to affect the functional prognosis of children with intermediate/high ARM. These data may help physicians in stratifying the clinical and diagnostic pathway of patients with ARM.

VACTERL association in anorectal malformation: effect on the outcome.

PURPOSE: Anorectal malformations (ARM) can commonly occur in association with other congenital anomalies or as part of the combined anomaly. The present study aims to assess the outcome of patients with ARM and patients with ARM in VACTERL association. METHODS: A 12-year retrospective analysis of all patients treated at a single tertiary children's institution with a diagnosis of ARM. We identified and compared patients with ARM to those with ARM in VACTERL association (3 or more anomalies). Data were collected for both groups to assess type of ARM, urinary incontinence (UI), constipation, soiling, dietary/laxative treatment, bowel management (BM) and surgical complications. Type of lesion and clinical outcomes were classified according to Krickenbeck International classification. Patients lost to follow-up, dead or not yet toilet-trained (or <4 years old) were excluded. RESULTS: One hundred ninety-eight patients were identified, 174 enrolled in the study. Lesions were classified for each study group (VACTERL- vs VACTERL+) as perineal fistulas (36.4 vs 9.7%, p = 0.0028), rectourethral fistulas (prostatic and bulbar) (23.1 vs 38.7%, p = ns), rectovesical fistulas (3.5 vs 9.7%, p = ns), rectovestibular fistulas (19.6 vs 22.6%, p = ns), cloacal malformations (4.9 vs 9.7%, p = ns), no fistula (4.9 vs 3.2%, p=), others (7.7 vs 6.4%, p = ns). The frequency of both dietary/laxative treatment and BM, as well as surgical complications were significantly higher in patients with VACTERL. CONCLUSIONS: The coexistence of VACTERL anomalies negatively affects not only the surgical outcome but also the bowel functioning. Therefore, a dedicated follow-up is strongly recommended. Further studies are needed to assess if this has an impact on the quality of life of these patients.

Comparison of regional vs. systemic analgesia for post-thoracotomy care in infants.

BACKGROUND: In infants, post-thoracotomy analgesia traditionally consists of systemic opiates, while regional techniques have gained more favor in recent years. We compare the two techniques for thoracotomy in infants. METHODS: All consecutive patients below 6 months of age who underwent thoracotomy for congenital pulmonary malformations in the study period were retrospectively divided according to the chosen postoperative analgesia: Group S systemic opiates, Group R continuous regional (epidural or extrapleural paravertebral) block. We studied the following outcomes: need for NICU and mechanical ventilation, pain score, requirement for additional analgesics, heart rate 1 h postsurgery, time to pass first stool and to full feed, complications, and duration of hospitalization. RESULTS: Forty consecutive patients were included, 19 in Group S and 21 in Group R. Median age at surgery was 89 days (40-110) and 90 days (46-117), respectively. Five of 19 patients in Group S vs none in Group R required postoperative intensive care (P = 0.017). Patients in Group R had significantly lower postoperative heart rate (145 [138-150] vs. 160 [152-169] b·min(-1) , P = 0.007), earlier passage of first stools (24 h [12-24] vs. 36 h [24-48] P = 0.004), and earlier time to full feed (36 h [24-48] vs. 84 h [60-120] P = 0.0001) than those in Group S. The only observed complication was one catheter dislocation. CONCLUSION: In infants undergoing thoracotomy, loco-regional analgesia is effective and associated with a reduced intensity of postoperative care and earlier full feeding than systemic analgesia; it should therefore be considered a better option.

Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome?

OBJECTIVE: To describe short-term neurodevelopmental outcome of infants operated on for congenital anomalies (CA) and assess the impact of type of CA on the outcome. STUDY DESIGN: From 2008 to 2010 newborns operated on for CA were enrolled in a cross-sectional follow-up study including three distinct groups: infants of 6 months (group A), infants of 12 months (group B), and children of 24 months (group C). Each group was divided into five subgroups: (1) esophageal atresia; (2) congenital diaphragmatic hernia; (3) midgut malformations; (4) abdominal wall defects; (5) colorectal malformations. Each group of patients underwent a neurodevelopmental evaluation with Bayley III. RESULTS: In all, 150, 156, and 84 babies were enrolled in groups A, B, and C, respectively. Mean (standard deviation) Mental Scale score was 94.65 (8.75), 98.76 (11.03), and 100.60 (12.04) in groups A, B, and C. Mean (standard deviation) Motor Scale score was 96.89 (11.62), 99.23 (14.83), and 103.60 (12.90) in groups A, B, and C. No significant differences were found among the five subgroups considered. CONCLUSION: Regardless of type of malformation, short-term neurodevelopmental outcome of children with gastrointestinal anomalies including diaphragmatic hernia falls within normal range, suggesting that neither being born with a CA nor its type is per se a risk factor for neurodevelopmental delay.

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.

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.

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.

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.