Complex Presentation of Goldenhar Syndrome in a Preterm Neonate: A Case Report.

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare congenital disorder characterized by craniofacial anomalies, ear malformations, and ocular abnormalities. It is also associated with multiple system involvement, including the central nervous system, renal, cardiovascular, and gastrointestinal systems. This case report presents a detailed description of a preterm female neonate diagnosed with Goldenhar syndrome. Many of the classical features, along with ventricular septal defect (VSD), were present in our patient. She was complicated by prematurity and a urinary tract infection and was later diagnosed with a VSD at the age of three months. The multidisciplinary examination and management involving pediatricians, pediatric surgeons, ophthalmologists, and otorhinolaryngologists led to comprehensive care for the patient. This case emphasizes the importance of early diagnosis and management for optimal patient outcomes.

Congenital duodenojejunal junction obstruction; report of two rare cases.

INTRODUCTION AND IMPORTANCE: Congenital obstruction of duodenojejunal junction is a rare unexplored pathologic entity. Most of the cases reported so far are regarding extrinsic band or narrower attachment of ligament of Treitz, which will be presenting with vomiting in neonates and children without malrotation. CASE PRESENTATION: Author is reporting here two rare cases of congenital intrinsic duodenojejunal junctional obstruction and their management in toddlers. CLINICAL DISCUSSION: Duodenojejunal junction, is an embryologically, pathologically and radiographically, yet unexplored region except anatomically and surgically. Only few pathologies have been described in this region so far CONCLUSION: An abnormal embryogenesis could be speculated and contemplated to be the reason for such rare congenital duodeno jejunal junctional obstruction which should be managed promptly as per required surgical techniques.

Laparoscopic repair of duodenal atresia: systematic review and meta-analysis after consistent implementation of the technique in the past decade.

BACKGROUND: Laparoscopic repair of duodenal atresia (LRDA) remains a technically challenging procedure and its benefits ambiguous. To assess the safety and efficacy of LRDA, we performed a systematic review of techniques and material for LRDA and a meta-analysis comparing outcomes with open repair (OR). METHODS: Comprehensive search of EMBASSE, PubMed and Cochrane was performed from 2000 to 2023. Studies comparing LRDA with OR were identified and outcomes extracted included operative time, time to enteral feeds, length of hospitalisation, anastomotic leaks and stricture and total complications. χ2 was used to assess associations between complications and conversions rates of different LRDA approaches (laparoscopic technique, suturing technique). Comprehensive meta-analysis was used for Meta-analysis. RESULTS: Twelve studies were identified and 1731 patients were enrolled in the study (398 [LRDA] and 1325 [OR]). Total rate of complications and conversion for LRDA was 15.58% and 18.84%, respectively. Complication rates were not significantly affected by operative technique and suturing technique. Conversion rates were not significantly affected operative technique; using a combination of interrupted and running suturing was significantly higher than using running or interrupted (χ2 = 7.45, p < 0.05). Anastomotic leaks, strictures and total complications were equivocal between LRDA and OR (OR 1.672, 95% CI 0.796-3.514; OR 2.010, 95% CI 0.758-5.333; OR 1.172, 95% CI 0.195-7.03). Operative time was significantly greater for LRDA (SDM 1.035, 95% CI 0.574-1.495, p < 0.001). Time to initial and full enteral feeds and length of hospitalisation were shorter in the LRDA group (SDM - 0.493, 95% CI - 2.166 to 1.752, p = 0.466; SDM - 0.207, 95% CI - 1.807 to 0.822, p = 0.019; SDM - 0.111, 95% CI - 1.101 to 0.880, p = 0.466, respectively). CONCLUSIONS: LRDA showed equivalent complication rates compared to OR with an additional benefit of quicker establishment of feeds. There was no significant difference in complication and conversion rates between laparoscopic techniques. Despite a longer operative time, LRDA provides a safe minimal access approach for neonates after this consistent implementation of the technique in the past decade.

A rare case of oesophageal atresia complicated by duodenal atresia and anorectal malformation successfully treated with multi-stage surgery.

INTRODUCTION: Oesophageal atresia, duodenal atresia, and anorectal malformations are rare. This report describes a case of an infant with these three conditions treated using a multi-stage surgical procedure. PRESENTATION OF CASE: A male infant was delivered via caesarean section at 34 weeks and 4 days of gestation, weighing 1709 g. Radiography at birth showed a coil-up of the gastrointestinal tube in the oesophagus, a double bubble sign; the patient was subsequently diagnosed with gross type C oesophageal atresia with duodenal atresia. A gastrostomy was performed at day 0. Oesophago-oesophageal anastomosis was performed after tracheoesophageal fistula and blind-end dissection. A duodeno-duodenal diamond-shaped anastomosis was performed, and a tube enterostomy was created from the gastric area near gastrostomy as a trans-anastomotic feeding tube. A colostomy was performed in the descending colon owing to a non-rotation-type anomaly of intestinal malrotation. After other multi-stage surgeries and weight gain, posterior sagittal anorectoplasty was performed at age 1 year 2 months. DISCUSSION: Triple atresia (TA), characterized by triumvirate oesophageal atresia, duodenal atresia, and anorectal malformations, remains a clinical puzzle. Notably, standardized therapeutic guidelines for managing TA are lacking. The complexity of this constellation of anomalies necessitates astute diagnostic acumen and strategic treatment planning. CONCLUSION: Our patient showed a favourable clinical course with an accurate and timely diagnosis, serving as an experience for an innovative multi-stage therapeutic strategy. Our case showed the appropriate challenges of TA while illuminating the potential for successful outcomes through meticulous clinical management.

Association of Age at Duodenal Atresia Repair With Outcomes: A Pediatric NSQIP Analysis.

PURPOSE: Neonates with duodenal atresia (DA) are often born prematurely and undergo repair soon after birth, while others are delayed to allow for growth until closer to term corrected gestational age (cGA). Premature infants have been demonstrated to experience worse outcomes, but it is unclear whether delaying surgery mitigates the increased morbidity. This study evaluates the association of timing of DA repair with postoperative morbidity. METHODS: We retrospectively evaluated neonates undergoing DA repair from the National Surgical Quality Improvement Program-Pediatric database (2015-2020). A multivariable regression analyzed factors associated with composite morbidity, including cGA and age in days of life (DOL) at surgery. A propensity score matched analysis was completed in premature neonates born at ≤35 weeks gestation to compare outcomes at similar birth gestational ages (bGA) and birth weight who underwent early (<7 DOL) versus delayed (≥7 DOL) repair. RESULTS: 809 neonates were included with a median bGA of 36 weeks (IQR 34-38), birth weight of 2.46 kg (IQR 1.96-2.95), and DOL at surgery of 2 (IQR 1-5). Infants born ≤35 weeks represented 35.23% of the cohort. On multivariable analysis, increasing cGA at surgery was associated with decreased morbidity (OR: 0.91, CI [0.84, 0.99]), and increasing DOL at surgery was associated with increased morbidity (OR: 1.02, CI [1.00, 1.04]). On propensity score matched analysis, delayed repairs were associated with increased postoperative ventilation (6 days vs. 2 days, p < 0.05); however, there were no differences in composite or surgical morbidity between early and delayed repairs. CONCLUSIONS: Morbidity after DA repair in neonates ≤35 weeks cGA is primarily driven by non-surgical causes, but delaying surgery does not appear to mitigate the risks associated with prematurity. It seems reasonable to consider repair in neonates around 33-34 weeks gestation without prohibitive risk factors. Optimal timing of DA repair requires a delicate balance between these factors. LEVEL OF EVIDENCE: Level III. TYPE OF STUDY: Retrospective Cohort Study.

Minimally invasive management of combined esophageal atresia with tracheoesophageal fistula and duodenal atresia: a comprehensive case report.

A newborn presented with a rare combination of esophageal atresia with tracheoesophageal fistula (EA/TEF) and duodenal atresia (DA), which was successfully managed using minimally invasive surgical techniques. The patient was a 1-day-old male for whom passing a feeding tube was infeasible and who had a double bubble sign on radiography. The neonate underwent a thoracoscopic ligation of the tracheoesophageal fistula (TEF) and a laparoscopic duodeno-duodenostomy on the same day, resulting in stabilized vital signs. Ten days after the initial operation, a thoracoscopic esophago-esophagostomy was successfully performed. The patient demonstrated full feeding capability and normal weight gain after the surgeries. The co-occurrence of EA/TEF and DA is a rare and complex anomaly. This case indicates that minimally invasive techniques can effectively manage this condition.

Case report: Laparoscopic gastrojejunostomy for duodenal atresia with situs inversus and preduodenal portal vein: a report of two cases.

Congenital duodenal atresia with situs inversus is occasionally accompanied by a preduodenal portal vein (PDPV), which is incidentally diagnosed during surgery. Duodenoduodenostomy is the most common and effective treatment. However, some patients require other anastomoses. Here, we present two cases of laparoscopic gastrojejunostomy for congenital duodenal atresia with situs inversus and PDPV and describe the reason for selecting gastrojejunostomy. The optimal surgical strategy is patient specific and should be determined based on the patient's general and physical condition.

Combined esophageal and duodenal atresia: A review of the literature from 1950 to 2020.

The combination of duodenal atresia (DA) and esophageal atresia (EA) is very rare. With improvements in prenatal sonography and the use of fetal magnetic resonance imaging (MRI), these malformations can be diagnosed in a more accurate and timely manner; polyhydramnios remains the most common sign despite having a low specificity. The high rate of associated anomalies (in 85% of cases) can also impact neonatal management and increase the morbidity rate; thus, it is of paramount importance to look for every possible associated malformation, such as VACTERL and chromosomic anomalies. The surgical management of this combination of atresias is not well defined and changes according to the patient's clinical status, the type of EA, and the other associated malformations. Management ranges from a primary approach for one of the atresias with delayed correction of the other (56.8%) to a simultaneous repair of both atresias (33.8%) with or without gastrostomy, or total abstention (9.4%). We suggest that a simultaneous approach can be safely performed on patients in good physical condition, with a birth weight over 1500 g, and with no major respiratory distress; this method begins by closing the tracheoesophageal fistula to protect the lung and then repairing the DA. The mortality rate has decreased over the years, dropping from 71% before 1980 to 24% after 2001. In this review, we present the available evidence on these conditions, focusing mostly on the epidemiology, prenatal diagnosis, neonatal management strategies, and outcome, with the aim of determining how the different clinical features and surgical approaches may impact on morbidity and mortality.

Duodenal Atresia Repair: A Single-Center Comparative Study.

BACKGROUND: The use of laparoscopy in the repair of duodenal atresia has been increasing. However, there is no consensus regarding which surgical approach has better outcomes. We aimed to compare the different surgical approaches and types of anastomoses for duodenal atresia repair. METHODS: Patients who underwent duodenal atresia repair at a single pediatric center were identified between January 2006 and June 2022. Those with concomitant gastrointestinal anomalies or who required other simultaneous operations were excluded. The primary outcome was rate of complications, defined as rate of leak, stricture, and re-operation by surgical approach and technique of anastomosis. RESULTS: A total of 78 patients were included. The majority were female (51.3%, n = 40), with a median age of 4 days (IQR 3.0,8.0) and a median weight of 2.7 kg (IQR 2.2,3.3) at repair. The re-operation rate was 7.7% (n = 6), of which two were anastomotic leaks, and four were anastomotic strictures. The leak rate was 5.6% (n = 1/18) for the open handsewn and 4.8% (n = 1/21) for the laparoscopic handsewn technique. The stricture rate was 12.5% (n = 1/8) for the laparoscopic-assisted handsewn, 9.1% (n = 2/22) for the laparoscopic U-clip, 4.8% (n = 1/21) for the laparoscopic handsewn, and none with laparoscopic stapled and laparoscopic converted to open handsewn techniques. No differences were found in complication rate when controlling for surgical approach. CONCLUSION: The method of surgical approach did not affect the outcomes or complications in the repair of duodenal atresia.

[Delayed complication of surgical treatment of duodenal atresia in neonatal period]. / Pozdnee oslozhnenie khirurgicheskogo lecheniya atrezii dvenadtsatiperstnoi kishki v neonatal'nom periode.

We report a 48-year-old woman who underwent surgery in early neonatal period for duodenal atresia and developed subsequent diseases of the upper gastrointestinal tract. Symptoms of gastric outlet obstruction, gastrointestinal bleeding and malnutrition developed over the past 5 years. Inflammatory and cicatricial lesions of gastrojejunostomy formed for congenital duodenal obstruction following annular pancreas required reconstructive surgery.

Cardiac anomalies in children with congenital duodenal obstruction: a systematic review with meta-analysis.

BACKGROUND: Cardiac anomalies occur frequently in patients with congenital duodenal obstruction (DO). However, the exact occurrence and the type of associated anomalies remain unknown. Therefore, the aim of this systematic review is to aggregate the available literatures on cardiac anomalies in patients with DO. METHODS: In July 2022, a search was performed in PubMed and Embase.com. Studies describing cardiac anomalies in patients with congenital DO were considered eligible. Primary outcome was the pooled percentage of cardiac anomalies in patients with DO. Secondary outcomes were the pooled percentages of the types of cardiac anomalies, type of DO, and trisomy 21. A meta-analysis was performed to pool the reported data. RESULTS: In total, 99 publications met our eligibility data, representing 6725 patients. The pooled percentage of cardiac anomalies was 29% (95% CI 0.26-0.32). The most common cardiac anomalies were persistent foramen ovale 35% (95% CI 0.20-0.54), ventricular septal defect 33% (95% CI 0.24-0.43), and atrial septal defect 33% (95% CI 0.26-0.41). The most prevalent type of obstruction was type 3 (complete atresias), with a pooled percentage of 54% (95% CI 0.48-0.60). The pooled percentage of Trisomy 21 in patients with DO was 28% (95% CI 0.26-0.31). CONCLUSION: This review shows cardiac anomalies are found in one-third of the patients with DO regardless of the presence of trisomy 21. Therefore, we recommend that patients with DO should receive preoperative cardiac screening. LEVEL OF EVIDENCE: II.

Effect of trisomy 21 on long-term gastrointestinal outcomes in duodenal atresia.

PURPOSE: We aimed to determine if Trisomy 21 (T21) affected gastrointestinal outcomes for children with duodenal atresia (DA). METHODS: We identified children born with DA between 1991 and 2017. Cases were divided into DA with T21 and DA without T21. Ten healthy controls per case were included. Esophageal, ulcerative, obstructive and stomach complaints were assessed. Risk ratios (RR), rate ratios (RaR) and Cox models were constructed. Analyses were performed for cases versus controls, and for T21 cases versus non-T21 cases. RESULTS: DA cases totaled 52: 22 had T21 and 30 did not. There were 520 controls. DA cases had more gastrointestinal complaints than controls. T21 cases were at greater risk and frequency of esophageal disease than non-T21 cases (RR = 4.08, p = 0.002, RaR = 69.8, p < 0.001). T21 and non-T21 cases were equally likely to present with obstruction (RR = 0.91, p = 1), but T21 cases complained of obstructive symptoms less (RaR = 0.57, p = 0.003). T21 and non-T21 cases had the same risk of stomach diseases, but T21 cases complained more frequently (RaR = 6.20, p < 0.001). Cox models supported these observations. T21 did not affect ulcerative diseases. CONCLUSION: DA cases had more gastrointestinal problems than controls. T21 increased esophageal and gastric complaints in DA cases but did not affect ulcerative and obstructive complaints.

Midgut Atresia: Diagnostic and Management Challenges From Northern Tanzania.

Intestinal obstruction is one of the most common surgical emergencies in the neonatal period. Early diagnosis is vital for proper management and good outcome. Intestinal obstruction can be divided into high, for example, duodenal atresia and jejunal atresia, or low, for example, ileal atresia, colonic atresia, and Meckel's diverticulum. The most common cause of intestinal obstruction in neonates is midgut atresia. Surgical correction is needed and is a challenge in the developing countries where there is lack of pediatric surgeons, anesthesiologists, and intensive care. More research and data is also needed across countries to show the uneven distribution of the available resources.

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients.

BACKGROUND: Duodenal obstruction (DO) is a congenital anomaly that is highly associated with other anomalies, such as cardiac anomalies and trisomy 21. However, an overview of additional anomalies and patient-specific risk factors for cardiac anomalies is lacking. Potential association with the vertebral, anorectal, cardiac, trachea-esophageal, renal and limb anomalies (VACTERL) spectrum remains unknown. Therefore, we aim to examine the incidence of associated anomalies, a VACTERL-spectrum association and patient-specific risk factors for cardiac anomalies in patients with DO. METHODS: A retrospective cohort study was performed between 1996 and 2021. Outcomes were the presence of any additional anomalies. Risk factors for cardiac anomalies were analyzed using multivariate logistic regression. RESULTS: Of 112 neonates with DO, 47% (N = 53/112) had one associated anomaly and 38% (N = 20/53) had multiple anomalies. Cardiac anomalies (N = 35/112) and trisomy 21 (N = 35/112) were present in 31%. In four patients, VACTERL-spectrum was discovered, all with cardiac anomalies. Trisomy 21 was found to be a risk factor for cardiac anomalies (OR:6.5; CI-95%2.6-16.1). CONCLUSION: Associated anomalies were present in half of patients with DO, of which cardiac anomalies and trisomy 21 occurred most often, and the VACTERL-spectrum was present in four patients. Trisomy 21 was a significant risk factor for cardiac anomalies. Therefore, we recommend a preoperative echocardiogram in patients with DO. In case a cardiac anomaly is found without trisomy 21, VACTERL-screening should be performed.

Intestinal atresia and necrotizing enterocolitis: Embryology and anatomy.

The primitive gut originates at week 3 of gestation from the endoderm, with posterior incorporation of the remaining embryo layers. Wnt, Notch and TLR4 pathways have been shown to play central roles in the correct development of the intestine. The classical hypothesis for intestinal atresia development consists of failure in bowel recanalization or a vascular accident with secondary bowel reabsorption. These have been challenged due to the high frequency of associated malformations, and furthermore, with the discovery of molecular pathways and genes involved in bowel formation and correlated defects producing atresia. Necrotizing enterocolitis (NEC) has a multifactorial pathogenesis with prematurity being the most important risk factor; therefore, bowel immaturity plays a central role in NEC. Some of the same molecular pathways involved in gut maturation have been found to correlate with the predisposition of the immature bowel to develop the pathological findings seen in NEC.

Laparoscopic versus open repair of congenital duodenal obstruction: a systematic review and meta-analysis.

PURPOSE: To assess the safety and efficacy of laparoscopic versus open repair of congenital duodenal obstruction (CDO), we conducted a systematic review and meta-analysis (CDO). METHODS: A literature search was conducted to identify studies that compared laparoscopic surgery (LS) and open surgery (OS) for neonates with CDO. Meta-analysis was used to pool and compare variables such as operative time, time to feeding, length of hospital stay, anastomotic leak or stricture, postoperative ileus, wound infection, and overall postoperative complications. RESULTS: Among the 1348 neonatal participants with CDO in the ten studies, 304 received LS and 1044 received OS. When compared to the OS approach, the LS approach resulted in shorter hospital stays, faster time to initial and full feeding, longer operative time, and less wound infection. However, no significant difference in secondary outcomes such as anastomotic leak or stricture, postoperative ileus, and overall postoperative complications was found between LS and OS. CONCLUSIONS: LS is a safe, feasible and effective surgical procedure for neonatal CDO when compared to OS. Compared with OS, LS has a faster time to feeding, a shorter hospital stay, and less wound infection. Furthermore, in terms of anastomotic leak or stricture, postoperative ileus, and overall postoperative complications, LS is equivalent to OS. We conclude that LS should be considered an acceptable option for CDO.

Duodenal and Pyloric Web in Children: Clinical Presentation and Management.

Background: Duodenal and pyloric web (DW/PW) can present at any age, symptoms depend upon the location of the web along with the presence and size of the opening in the web. The surgical management is not straightforward always. Here, in this study, we aim to assess clinical characteristics, management, and outcome of children with DW/PW. Materials and Methodology: This was a retrospective study from 2005 to 2019, and data were collected from record registers. All children of DW/PW presented between this duration were included in this study. Results: A total of 45 patients (age range = 1 day to 11 years) included in the study, 40 had DW while 5 had PW. Seven patients were diagnosed antenatally and 20 patients had associated congenital anomalies. Most patients presented with vomiting either bilious or nonbilious. Plain X-ray was sufficient for the diagnosis in 60% of patients, the rest diagnosed on contrast study. The web excision and pyloroplasty were done for PW. The web excision and Heineke-Mikulicz type enteroplasty was the preferred surgery for DW but some patients were required Kimura's duodeno-duodenostomy. For postoperative nutrition, enteral feeding was established through the placement of a feeding tube beyond anastomosis. Ten patients died due to septicemia and associated anomalies. Four patients had a minor leak which was managed by conservative means. Four patients required redo surgery, adhesive obstruction was the most common indication. During follow-up, all 35 patients were doing well with no major complaints. Conclusion: DW/PW has different presentations as compared to other intestinal atresia and can present at any age. A contrast study confirms the diagnosis when plain X-ray is inconclusive. Associated anomalies and septicemia are the poor prognostic indicators. Postoperative enteral feeding helps in maintaining adequate nutrition and improves the outcome even in children with a minor anastomotic leak.

Postoperative feeding in neonatal duodenal obstruction.

BACKGROUND: Findings from manometry studies and contrast imaging reveal functioning gastric physiology in newborns with duodenal atresia and stenosis. Stomach reservoir function should therefore be valuable in aiding the postoperative phase of gastric feeding. The aim of this study was therefore to compare the feasibility of initiating oral or large volume(s) gavage feeds vs small volume bolus feeds following operation for congenital duodenal anomalies. METHODS: Single-center electronic medical records of all babies with duodenal atresia and stenosis admitted to a university surgical center during January 1997-September 2021 were analyzed. A fast-fed group (FF) included newborns fed with oral or gavage feeds advanced at a rate of at least 2.5 ml/kg and then progressed more than once a day vs slow-fed group (SF) fed with gavage feeds at incremental rate less than 2.5 ml/kg/day for each time period of oral tolerance or by drip feeds. Total feed volume was limited to 120-150 ml/kg/day in the respective study cohort populations. RESULTS: Fifty-one eligible patients were recruited in the study - twenty-six in FF group and twenty-five in SF group. Statistically significant differences were observed in the (i) date of first oral feeds (POD 7.7 ± 3.2 vs 16.1 ± 7.7: p < 0.001), and (ii) first full feeds (POD 12.5 ± 5.3 vs 18.8 ± 9.7: p < 0.01) in FF vs SF study groups. CONCLUSION: Initial feeding schedules with oral or incremental gavage-fed rates of at least 2.5 ml/kg in stepwise increments and multi-steps per day is wholly feasible in the postoperative feeding regimens of neonates with congenital duodenal disorders. Significant health benefits are thus achievable in these infants allowing an earlier time to acquiring full enteral feeding and their hospital discharge.

Incidence of late severe intestinal complications after bowel atresia/stenosis.

BACKGROUND: To determine the incidence and risk factors for late severe intestinal complications after surgical repair for intra-abdominal congenital intestinal atresia/stenosis. METHODS: We included 51 patients who underwent surgical repair for congenital intestinal atresia/stenosis. Late severe intestinal complications included adhesive ileus, incisional hernia, or volvulus. Whether surgical intervention was urgent or not was recorded. The location of the atresia/stenosis was classified into two groups: atresia/stenosis located at the oral or anal side from the Treitz ligament. The type of atresia/stenosis was classified as low-risk types (type I, mucosal web/II, fibrous cord/IIIa, mesenteric gap defect) and high-risk types (IIIb, apple peel/IV, multiple atresia). We compared the incidence of late intestinal complications between the location of intestinal atresia/stenosis at the oral and anal side of Treitz ligament, and between low- and high-risk types of atresia/stenosis using Fisher's exact test. RESULTS: Eight (15.7%) had late intestinal complications, all of which occurred in patients with intestinal atresia/stenosis located on the anal side of the ligament of Treitz. Urgent surgical intervention was needed in four cases. There was a significant difference in the location of atresia/stenosis (with vs. without late intestinal complications at oral/anal side of the Treitz ligament: 0/8 vs. 24/19; P = 0.005) and the type of intestinal atresia/stenosis (with vs. without that accompanying low-/high-risk type: 5/3 vs. 41/2; P = 0.023). CONCLUSIONS: Physicians should consider the presence of intestinal complications that require surgical intervention in patients undergoing surgical reconstruction for jejunal and ileal atresia/stenosis with abdominal symptoms.