Case Report: Congenital diaphragmatic hernia associated with esophageal atresia and tracheoesophageal fistula

Introduction

Congenital diaphragmatic hernia (CDH) is a developmental defect in the diaphragm that occurs in approximately 1 in 3,300 live births (1). A defect in the diaphragm causes herniation of the abdominal organs into the chest and compression of the lungs, which results in respiratory insufficiency after birth and persistent pulmonary hypertension of the newborn (2). Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are some of the most common congenital abnormalities of the gastrointestinal tract, affecting 1 in 3,000–4,500 live births (3). The co-occurrence of CDH and EA with TEF is very rare and carries a high fatality rate of 51.9%. The fatality rates of right and left CDH and EA with TEF were estimated to be 60% and 44.4%, respectively, while that of left CDH with EA was 80%. Surgery is the only method to correct these deformities. Cases of early postoperative survival have been reported since 1993. However, there is no unified method to treat these two deformities. We report a case of a premature infant with left CDH, EA, TEF and a right aortic arch.

Case report

A male infant weighing 2,350 g with an antenatal diagnosis of left CDH and right aortic arch since the 24-week gestation period was born by cesarean section at 35+2 weeks of gestation. No abnormality was found in amniotic fluid low density gene chip at 21 weeks of gestation. The left CDH was revealed by systematic fetal ultrasound and targeted ultrasound at 24 weeks of gestation. The size of the right lung in the cross section was about 2.4 × 1.57 cm and the lung-to-head ratio (LHR) was about 1.64. Follow-up targeted fetal echocardiography and fetal chest MRI suggested right aortic arch. Fetal ultrasound at 26 weeks of gestation showed polyhydramnios (amniotic fluid: 8.4 cm, amniotic fluid index: 26.0 cm). Targeted ultrasound at 34 weeks of pregnancy showed that the lung-to-head ratio was 1.93.

The baby had mild respiratory distress at birth, with Apgar scores of 5 and 8 at 1 and 5 min, respectively. Immediately after birth, the infant was intubated and admitted to the neonatal intensive care unit (NICU). Attempts to pass a nasogastric tube (NGT) were unsuccessful, and EA was suspected. Chest radiography confirmed the presence of left CDH with multiple air-filled loops of the bowel in the thoracic cavity, which suggested the possibility of EA and TEF with a U-shaped NGT in the middle mediastinum. Emergency surgery was performed after the evaluation. The spleen, stomach, and most of the intestines were returned to the abdominal cavity via a transverse incision of the left upper abdomen, and a 3 × 3 cm defect of the left posterolateral diaphragm was observed(Defect B according to CDH Study Group Staging System). The diaphragmatic defect was intermittently sutured using a non-absorbable suture. It was difficult to maintain the infant's breathing under high-frequency ventilation (HFV); therefore, we did not attempt to perform a thoracotomy to ligate the fistula. A gastrostomy was performed to prevent gastrointestinal flatulence caused by mechanical ventilation. After the first operation, the infant suffered severe pulmonary hypertension and underwent treatment with high-frequency oscillatory ventilation, nitric oxide inhalation, and cetuximab. His blood oxygen saturation under HFV was normal. Subsequently, pulmonary hemorrhage occurred, and a hemodynamically significant patent ductus arteriosus (HsPDA) was considered. Ibuprofen was used for the closure of the PDA. After these treatments, the patient underwent thoracotomy via the left posterolateral incision on day of life (DOL) 16. Due to a large amount of pleural effusion in the pleural cavity and evident mediastinal edema, only the TEF was ligated and divided. Esophageal anastomosis was performed on DOL 39; the distance between the proximal and distal ends was 2.5 cm.

The patient was fed through a gastrostomy tube on DOL 20. No signs of esophageal stricture or gastroesophageal reflux were found on esophagography 10 days after esophageal anastomosis. Unfortunately, the patient developed intestinal failure-associated liver disease due to long-term parenteral nutrition. Biochemical indices, such as liver enzymes and serum conjugated bilirubin, returned to normal after treatment with fish oil monotherapy. The patient was on oral total enteral feeding when he was discharged from the hospital at the age of 3 months. On follow-up at the age of 6 months, the patient was able to raise his head steadily and turn his body over.

Discussion

To the best of our knowledge, 36 cases of CDH, EA, and TEF have been reported to date. We included a total of 27 cases with detailed information (Table 1) in this literature review. There were 17 cases of left CDH, EA, and TEF; 5 cases of left CDH and EA; and 5 cases of right CDH, EA, and TEF. No cases of right CDH or EA have been reported to date. Most reported cases were accompanied by other malformations, the most common of which was a cardiovascular malformation (22.2%), such as a patent ductus arteriosus, atrial septal defect, interruption of the inferior vena cava, right aortic arch, or common arterial trunk. Other malformations included lung agenesis (18.5%), Meckel's diverticulum (14.8%), renal dysplasia (11.1%), trisomy 18 (7.4%), spinal deformities (7.4%), and facial deformities (3.7%). CDH, EA, and TEF are fatal deformities in children; however, surgery has been the key to saving their lives since 1970 (4).

Table 1. Summary of findings of CDH associated with EA or EA and TEF.

Treatment of left CDH, EA, and TEF

Left CDH with EA and TEF is the most common combination of deformities, and our review includes a total of 17 cases with this combination (Table 1). Among them, 13 of the cases had relevant surgical records (Table 2). In 8 cases of staged surgeries, CDH was repaired through an abdominal incision followed by esophageal anastomosis through a right thoracotomy, and a total of 4 patients survived. On average, the diaphragmatic hernia was repaired on DOL 1, and the TEF and EA were repaired between DOL 10 and DOL 14. The shortest discharge time was DOL 48, and the longest was 6.5 months. One of the patients that survived underwent diaphragmatic hernia repair on DOL 1, ligation and division of the TEF on DOL 13, and repair of the EA on DOL 49, with a total discharge time of 4 months after birth. Our patient also underwent three surgeries and was discharged at the age of 3 months. The repair of EA and TEF was performed on DOL 1 in only one reported cases (5). He was discharged at the age of 4 months and started to develop normally at 10 months old (5). In addition, two patients underwent a one-stage operation (13, 23). One died on DOL 113 due to chronic pulmonary insufficiency. The other was discharged at the age of 3 months. In general, both one-stage surgery and staged surgery seem to be reasonable choices. One-stage operation is taken into consideration only if the patient's condition permits. Interestingly, although most surgeons believed that the repair of diaphragmatic hernia should be put in the first place in staged surgery, repairing the EA first does not seem to have much to do with the survival rate(5). Therefore, we believed that the first stage of surgery should be more individualized according to the patient's condition.

Table 2. Summary of treatments of left CDH associated with EA or EA and TEF.

Sapin et al. (13) believed that gastrostomy was the most effective way to solve progressive flatulence caused by TEF in the gastrointestinal tract. Almost all surgical patients underwent a gastrostomy. Early gastrostomy stabilized the respiratory state and created conditions for subsequent EA and TEF repair. In three reported cases, in addition to gastrostomy, circular ligation was performed at the gastroesophageal junction to reduce air leakage caused by TEF (13, 21, 23). Among these cases, one patient reported by Zahn et al. (23) had an obvious esophageal stricture at the ligation site. Therefore, circular ligation of the gastroesophageal junction should be performed cautiously. Notably, in three cases of staged surgery, the TEF was repaired in the first stage of the operation (23). A longitudinal abdominal incision made it possible to ligate and divide the TEF in the operation of diaphragmatic hernia. Early closure of the fistula improves ventilation function by preventing gas from leaking into the intestines through the trachea, and this may have the same effect as a gastrostomy. Therefore, we recommend that TEF be repaired in the first stage of the operation as much as possible.

Treatment of right CDH, EA, and TEF

Similar to surgical procedures for a left CDH, the routine operation for patients with right CDH with EA and TEF is transabdominal repair of diaphragmatic hernia, ligation, and separation of the TEF and EA repair via a right thoracic incision. Of the five reported cases of right CDH with EA and TEF, four patients underwent surgery (Table 3). Two patients died shortly after diaphragmatic hernia repair, ligation, and division of TEF. The other two patients who underwent one-stage surgery survived during follow-up. In summary, one-stage surgery seems to be a reasonable choice for patients with right-sided CDH complicated by EA and TEF.

Table 3. Summary of treatments of right CDH associated with EA or EA and TEF.

Treatment of left CDH and EA

Among the five patients with CDH and EA, two died within 24–48 h due to severe persistent hypoxemia after diaphragmatic hernia repair (with or without esophagogastric anastomosis) (Table 4). Two patients underwent diaphragmatic hernia repair on DOL 3 and esophageal anastomosis on DOL 10 or 15. Although all patients died of septicemia at an advanced stage, some surgeons still believe that diaphragmatic hernia repair can be performed initially, and EA repair can be delayed while pulmonary hypertension resolves (9, 14). Only one patient survived during follow-up. In this case, EA with a low esophageal end was confirmed before surgery; therefore, a chevron incision was used to correct both deformities at the same time. Three months after discharge, the patient was still alive. Owing to the small number of cases, there is no unified surgical method for addressing combined deformities.

Table 4. Summary of treatments of left CDH associated with EA.

Conclusion

For patients with a left or right CDH with EA and TEF, a one-stage surgery is possible when the patient's breathing is stable. In staged surgery, in addition to gastrostomy, early ligation and division of the TEF are also important for stabilizing the respiratory state of patients. In patients with left CDH with EA, some surgeons recommend staged surgery to repair the EA after correcting for pulmonary hypertension, while others use a chevron incision to correct both deformities in a one-stage surgery.

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