Complete Laryngo-Tracheo-Oesophageal Cleft masquerading as Oesophageal Atresia and Tracheo-oesophageal Fistula: A Potential Diagnostic and Management Challenge.

Newborn babies presenting with difficulties related to the aerodigestive tract (ADT) are often provisionally diagnosed and managed as having oesophageal atresia +/- tracheo-oesophageal fistula. Continuing difficulties with management and abnormal findings on investigations should lead to the consideration of other congenital anomalies of the ADT, including complete larnygo-tracheo-oesophageal cleft (LTOC). We present two patients who were eventually diagnosed with complete LTOC and care was withdrawn. We discuss the inherent difficulties in reaching this diagnosis and present an algorithm to help manage these rare and challenging situations. Copyright:

INTRODUCTION

Newborn babies with congenital anomalies or functional problems related to the aerodigestive tract (ADT) can have a variety of antenatal or clinical presentations. In these situations, which are usually of an acute nature, a diagnosis of oesophageal atresia with or without tracheo-oesophageal fistula (OA ± TOF) is usually considered foremost, and the management algorithms followed by attending neonatologists and pediatric surgeons are thus directed.

We present two patients where OA ± TOF was considered as a probable diagnosis in a newborn baby with problems related to both the airway and the oesophagus and discuss how a combination of airway and upper gastrointestinal endoscopy led eventually to the correct diagnosis of a complete laryngo-tracheo-oesophageal-cleft (LTOC) (Type IV). We discuss the clinical presentation, the route to diagnosis, and the lessons learned from these unusual and taxing situations and suggest an optimal diagnostic algorithm that should lead to an early and accurate diagnosis.

CASE REPORT

Case I

A baby boy was delivered by spontaneous-onset preterm labor at 33+1 weeks gestation and weighed 1798grams. Initially he was breathing spontaneously in air. He was antenatally diagnosed with polyhydramnios, lumbar myelomeningocele and absent gastric bubble on multiple ultrasound scans (USs) and magnetic resonance imaging (MRI). A diagnosis of possible OA ± TOF was considered prenatally and the parents were counseled accordingly. At birth, there was an obvious lumbar myelomeningocele, and after initial resuscitation, a nasogastric tube (NGT) was passed. On a chest X-ray, this appeared to be unusual in position and extent as it passed straight down into the abdomen without the expected coiling in the upper pouch of an OA ± TOF and did not pass to the left into the stomach [Figure 1a]. It was felt that it may have perforated the upper pouch of an OA ± TOF and traversed down the mediastinum. A series of bedside X-rays with and without water-soluble contrast indicated possible extravasation of contrast into the mediastinum, further indicating possible perforation of an upper pouch of an OA ± TOF or perforation of a normal oesophagus [Figure 1b]. At this stage (4 hours of life), he developed increased oxygen requirements and was taken to the operation theatre. However, as the diagnosis of OA ± TOF was not established with certainty, rigid upper airway endoscopy was undertaken. Preceding this, at attempted endotracheal intubation, the anaesthetist could not visualize a normal laryngeal inlet with vocal cords. During rigid airway endoscopy it was evident that the patient had a single capacious channel leading from the pharynx to the stomach with two bronchi coming off it (arrows) [Figure 1c] – leading to a diagnosis of complete LTOC (Type IV). A consensus decision was made by the attending paediatric surgeon, ENT surgeon and anaesthetist that this was incompatible with life, the neonatologist was informed, and the baby was transferred back to the neonatal unit for withdrawal of intensive care; the baby died later.

Figure 1

(a) Abnormal position of a nasogastric tube in Case I. (b) Contrast instilled into nasogastric tube shows a common aerodigestive tube with opacification of the bronchial tree, left main bronchus clearly delineated and part of the proximal right main bronchus is seen. (c) Rigid airway endoscopy in Case 1 showing two bronchi (arrows) coming off a single aerodigestive channel. (d) A single bronchus (arrow) seen on rigid airway endoscopy coming off a single aerodigestive channel in Case II

Case II

A baby boywas delivered by planned caesarean section for faltering intrauterine growth at 37+5 weeks gestation. Birth weight was 2200grams. Antenatally he had diagnosed polyhydramnios. He was born in poor condition – there being no response to initial inflation or ventilation breaths delivered by mask. At intubation an unusual appearance of the laryngeal inlet was noted and the patient was intubated with difficulty (size 2.5 endotracheal tube). Post-intubation, a continuous air leak was noted with bubbles coming up around the tube while ventilating. Due to persistent difficulties in maintaining adequate ventilation, he was taken to theatre by an ENT surgeon and a rigid airway endoscopy was undertaken. No demonstrable laryngeal anatomy was seen and a diagnosis of laryngeal atresia was made. An attempt at tracheostomy was unsuccessful as no trachea could be identified with certainty at neck exploration. At this point, review of the endoscopy video with a pediatric surgeon led to the realization that the presumptive oesophagus was in fact a complete LTOC with a common tracheal and oesophageal cavity with one main bronchus seen to be coming off it (arrow) [Figure 1d]. After a multi-disciplinary discussion, the patient's condition was deemed incompatible with life and intensive care was withdrawn; the baby died later that day.

DISCUSSION

The immediate management of the newborn baby with a possible problem relating to the ADT can be challenging. Problems can arise and diagnostic confusion ensues when control of the airway becomes difficult despite a standard approach (including endotracheal intubation) and/or passage of an NGT that leads to abnormal or unusual clinical and/or radiological findings. What the correct or optimal sequence of investigations and interventions (algorithm) in these situations should be is not standardized.

We present two cases where such difficulties with problems relating to the ADT in the newborn were encountered soon after birth. We report these cases as an opportunity to discuss the related problems in diagnosis and management of severe congenital ADT malformations in the newborn, highlight the need for a multi-disciplinary approach, and suggest an optimal investigative algorithm that enables timely and satisfactory decision-making regarding diagnosis, prognosis and ongoing care.

In these situations, a provisional diagnosis of OA ± TOF is often made as this is the most common anomaly and diagnostic algorithms are thus directed. However, as seen in our two patients, other major anomalies of the ADT should also be considered.

In the context of an initial diagnosis of OA ± TOF in most of these situations, the clinical problem is further complicated by the fact that:

LTOCs can coexist with OA ± TOF in up to 6% of cases

OA ± TOF patients may have an upper pouch fistula (1%) which can lead to aspiration of feeds and respiratory compromise

In patients with OA ± TOF, NGTs have been reported to have passed down the trachea, through the TOF, and into the stomach mimicking an intact esophageal lumen [1]

Iatrogenic perforation of the hypopharynx, upper normal esophagus, or upper pouch in OA ± TOF by an NGT can be missed on chest X-rays.[2]

LTOC is a rare congenital aerodigestive abnormality. The Benjamin-Inglis Classification is the most widely used to describe this and is illustrated in Figure 2.[3]

Figure 2

Classification of laryngo-tracheo-esophageal cleft by Benjamin and Inglis (1989)

The embryology of this condition is poorly understood, and a comprehensive review of the embryology of the ADT is provided by Ioannides et al.[4] Recognized since 1792 when first described by Richter, an incidence of 1:10,000–20,000 live births is estimated. This may be an underestimate as the defects may remain asymptomatic or may lead to death in the early postnatal period without a formal diagnosis being made. LTOCs have a heterogeneous mode of presentation in clinical practice, often in the neonatal period, depending on the extent of the defect and associated anomalies as noted above. Presentation depends on the severity of the cleft, and in our experience, Type IV clefts present with airway problems at birth. While surgical repair of Types I–III is now largely successful, long-term survival after Type IV repair remains poor;[5] however, repair of Type IV clefts may be feasible [67] depending on the degree of functioning anatomy, but the mortality is high. Owusu et al.[8] have even reported a long-term survivor successfully decannulated. In both patients in this report, it was felt that repair was not feasible because of difficulty in maintaining the airway, size of patient, associated anomalies and severe nature of the defect itself.

To optimize the investigative and diagnostic pathway, we suggest the algorithm as shown in Figure 3.

Figure 3

Recommended diagnostic and interventional pathway in newborn babies with suspected congenital problems related to the airway and the esophagus (* depends on available expertise and equipment)

We believe that a flexible bronchoscopy is a suboptimal investigation of the newborn airway and should be avoided. Similarly, chest X-rays ± contrast studies can also be misleading and should be interpreted with care [Figure 1b]; in addition, contrast studies run the risk of spillage into the airway. Other radiological modalities such as computed tomographic scan and MRI are usually not feasible in the newborn with an unstable airway.

We recognize the logistical difficulties in achieving this multi-disciplinary approach in an emergency situation where one is dealing with a newborn baby with a precarious airway and also the difficulty and even technical impossibility of such an undertaking in the extremely premature neonate; however, an increased awareness of this rare aerodigestive anomaly and an algorithmic approach to diagnosis will facilitate clinicians in these challenging cases.

CONCLUSION

While OA ± TOF is the most common congenital malformation of the ADT, other diagnoses, including LTOCs, should be considered either in association or in isolation, especially if the clinical course is difficult or radiological findings are unusual. In such situations, an emergency care pathway should be initiated and should involve multiple professionals, including neonatologists, paediatric surgeons, anaesthetists, ENT surgeons, and radiologists. Rigid airway endoscopy and upper gastrointestinal endoscopy are essential to gain accurate information, and all efforts must be made to enable this despite the attendant airway/ventilation problems. Subsequent appropriate management decisions can then be made by the multi-disciplinary team on the basis of the findings.

Ethical clearance

Formal ethical approval was not sought for this study as this was a retrospective study involving data already collected and no patient involvement was required for its generation.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The parents understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.