Article Text

Download PDFPDF
Delayed presentation of a baby with an oesophageal atresia on day 14 of life
  1. Corne De Vos1,
  2. Charlie Kohler1,
  3. Natash Fourie1 and
  4. Pierre Goussard2
  1. 1 Division of Paediatric Surgery, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  2. 2 Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  1. Correspondence to Professor Pierre Goussard; pgouss{at}sun.ac.za

Abstract

Delayed presentation of oesophageal atresia (OA) with a tracheo-oesophageal fistula (TOF) is rare. Only a few case reports and two larger case series have been published. We present a neonate who was referred to our unit on day 14 of life with a missed OA and a TOF, having survived without any feeds or total parenteral nutrition up until referral.

We concluded that although such a delayed presentation is rare and avoidable, it does occur. This case highlights the necessity of good feedback to the referral hospitals with education on how to prevent this from recurring again. It also emphasises the necessity of a comprehensive clinical examination of all newborn babies. A high index of suspicion for OA with or without a TOF is essential in all babies with clinical drooling, feeding problems (from the first feed) and/or respiratory symptoms especially if combined with antenatal polyhydramnios.

  • radiology (diagnostics)
  • paediatrics (drugs and medicines)
  • respiratory system
  • neonatal intensive care
  • paediatrics

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Background

Delayed presentation of oesophageal atresia (OA) with or without a tracheo-oesophageal fistula (TOF) is rare and has not presented to our unit in the last 20 years. It is equally rare in published literature with a few case reports and two larger case series described. In 2004, Gupta and Narasimhan reported a 25-day-old neonate that presented to their unit and survived.1 In 2021, Gupta et al reported six cases with delayed presentation in the third week of life, all of which survived.2 We present our experience with one such patient.

Case presentation

A baby boy was born at 39 weeks of gestational age with a birth weight of 2580 g at a district hospital with established maternity and neonatal care services. An antenatal scan done at 20 weeks reported no evidence of polyhydramnios or fetal anomalies. He was born with normal Apgar scores, and both mom and baby were discharged home on day 1 of life. The 21-year-old mother had one previous stillborn with no known cause for the fetal death. She is a foreigner and comes from one of our neighbouring countries, but speaks and understands the language (English) of the treating medical professionals.

After discharge, the baby was brought back to the district hospital on day 2 of life by the mother due to respiratory distress and poor feeding. The baby was appropriately transferred to the nearest regional facility with a paediatric intensive care unit (PICU). At this point, his breathing difficulties were attributed to sepsis secondary to pneumonia and were treated with antibiotics and supplemental oxygen. Unfortunately, no nasogastric tube (NGT) or orogastric tube was inserted at this time. A chest X-ray was performed but without an NGT in situ. His condition improved with antibiotics, and he was down referred to the district hospital. On day 7 of life, his condition worsened, and he was referred back to the PICU at the regional hospital. Again, these clinical problems were attributed to nosocomial sepsis and poor gut motility, and therapy was aimed at these suggested pathologies. It was only on day 14 of life that an attempt to pass an NGT was done, and a chest X-ray was performed. On this radiograph (figure 1), it was clear that the NGT was coiled in the proximal oesophageal pouch, and the suspicion of OA and TOF was raised. This was confirmed by our registrar and prompted urgent transfer to our institution.

Figure 1

Chest X-ray on day 14 of life. There is hyperinflation bilaterally with the right lung more prominent than the left. Opacification is present in the right lung. Nasogastric tube curled in the proximal oesophagus with air in the stomach suggestive of a distal tracheo-oesophageal fistula.

On arrival to our unit at Tygerberg Children’s Hospital, a tertiary hospital in Cape Town, South Africa, the baby was well perfused, noted to be comfortable on nasal prong oxygen with mild respiratory distress and frothy secretions from the mouth. No dysmorphic features were present. There was evidence of failure to thrive with weight loss of 600 g below his birth weight. A 10 Fr Replogle suction tube was inserted and placed on continuous low-pressure suction. A repeat chest radiograph confirmed the presence of a proximal oesophageal pouch with a distal TOF. Evidence of aspiration in both lung fields was also present. Serum blood tests including an electrolyte panel, full blood count and albumin were performed, and all were within normal limits. A cardiac echo showed a normal heart and a left-sided aortic arch. The rest of the VACTERL work-up was normal.

A central line was placed, and total parenteral nutrition (TPN) was started on day 15 of life. On day 19 of life, the patient was taken to theatre for surgical repair of the OA and TOF. An on-table flexible bronchoscopy was performed with a 2.2 mm fibre bronchoscope (Olympus BFP40 Fibre Bronchoscope) fitted through a 3.0 mm endotracheal tube (ETT). After the ETT was pulled back, a large distal fistula was noted 2 cm above the carina (figure 2A,B). The fistula was visible in the posterior membrane with a diameter that was larger than that of the main bronchi. It was possible to pass the bronchoscope into the oesophagus. The ETT was repositioned to cover the fistula for surgery (above the carina). A right-sided extrapleural thoracotomy was performed. The distal fistula was ligated, and the proximal pouch was noted to be at T3/4. A tension-free primary anastomosis over a transanastomotic NGT with absorbable sutures was done. A chest drain was left in situ, and the patient was extubated on table prior to transfer to the PICU.

Figure 2

(A,B) Bronchoscopy pictures at about 2 cm above the carina, demonstrating a large fistula in the posterior membrane and a picture of the fistula between the trachea and the oesophagus.

Outcome and follow-up

The baby was discharged to the general paediatric surgical ward, and NGT feeds were started on day 1 postrepair. NGT feeds were steadily increased until the baby was on full feeds 4 days postrepair. A water-soluble contrast study (performed on day 7 postrepair) failed showed some narrowing but no leak, and oral feeding commenced (figure 3).

Figure 3

Contrast study on day 7 postrepair showing some narrowing (arrow) but no leak.

On day 10 postrepair, the baby was discharged home (figure 4), able to tolerate full breast feeding and after he had gained 500 g in the hospital.

Figure 4

Well baby on the day of discharge.

He was readmitted 2 weeks later with suspicion of aspiration. On examination, he was well with minimal reflux but with clinical evidence of mild tracheomalacia. He had a gastroscopy 1 month postrepair, and a stricture at the anastomotic site was found. He had several dilatations, and the last one at 5 months showed an open oesophagus with improvement of the stricture (figure 5). We planned a follow-up visit 6 weeks later in our outpatient department.

Figure 5

Gastroscopy at 5 months showing an open oesophagus with an improvement of the stricture.

Discussion

The first successful repair of an OA with a TOF was done by Cameron Haight in 1941.3 Since then, advances in neonatal intensive care units (NICU), neonatal anaesthesia and neonatal surgery have increased the survival to more than 90%.3 A delayed diagnosis beyond day 3 of life is known to be associated with decreased survival. These cases are rare (more common in low-income countries) with only a few reported in the literature.1 4

In 2004, Gupta and Narasimhan reported a 20-day-old neonate that presented to them with an OA and TOF which were successfully repaired on day 26 of life.1 A few years later, Mathai et al reported a male baby that presented to them on day 10 of life.5 They managed the patient with fluids, TPN and antibiotics before operating on day 17 of life. In 201, Nagdeve et al published their experience of neonates that presented with an OA and TOF after day 7 of life.3 Their series included 52 patients during an 8-year period with only 25 that survived and underwent surgery. All were term babies and in all but one, a primary anastomosis without tension was possible. They did, however, have a high mortality rate (60%) with pneumonitis being the most common cause of death.

The latest review was done in 2021. The authors specifically looked at six cases of survival with delayed presentation in the third week of life.2 All these cases were diagnosed between days 15 and 25 after birth. All were OA with a distal TOF; 50% were male, and their average hospital stay was 14.6 days. They concluded that delayed presentation is associated with a poor prognosis but stated that preoperative optimisation in a NICU can lead to an increase in the survival of these babies.

It is a mystery how these babies survive without feeds for such a long time. In our case, the baby exclusively received intravenous fluid (dextrose-containing) for the first 14 days of life. He amazingly presented well hydrated with a serum albumin level within normal limits. All his biochemical parameters remained normal, even after TPN was started and the sepsis was treated. There is no conclusion in the literature as to how or why delayed presenters seem to survive for so long prior to diagnosis.

With current advances in neonatal examination and treatment, it is still surprising that congenital diseases, like OA, can present with such a delayed presentation. Gupta and Narasimhan suggested that a high index of suspicion when babies present with drooling, feeding problems and/or respiratory distress can potentially avoid this.1 In an earlier letter to the editor, the same authors suggested that all babies with polyhydramnios on an antenatal ultrasound should have OA excluded after birth.6 Back to basics with a complete clinical examination after birth is paramount for the diagnosis of all major congenital anomalies.5

Learning points

  • We concluded that although such a delayed presentation is rare and avoidable, it does occur. Luckily, due to advances in neonatal care, preoperative stabilisation is possible, which can lead to favourable outcomes.

  • We must, however, highlight the need for a high index of suspicion for oesophageal atresia with or without a tracheo-oesophageal fistula in all babies with clinical drooling, feeding problems (from the first feed) and/or respiratory symptoms especially if combined with antenatal polyhydramnios. Our case highlights the necessity of good feedback to the referral hospitals with education on how to prevent this from recurring again. It also emphasises the necessity of a comprehensive clinical examination of all newborn babies.

Ethics statements

Patient consent for publication

Ethics approval

A request was submitted and approved by the Heath Research Ethics Committee 2 of The University of Stellenbosch for presentation and publication of this case (C21/03/008).

Acknowledgments

We are thankful to Dr Annemie Burke, consultant anaesthetist of the Department of Anesthesia, Tygerberg Hospital, for assisting us with this case.

References

Footnotes

  • Contributors CDV, CK and NF were responsible for the surgical treatment. PG was the paediatric pulmonologist involved with the case. All authors were involved in writing the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.