Videofluoroscopic Swallow Study in Diagnostics of H-Type Tracheoesophageal Fistula in Children

Abstract

Esophageal atresia remains one of the most challenging congenital anomalies of the newborn. It can occur with or without tracheoesophageal fistula (TEF), and to date, there are still no universally recommended diagnostic procedures. The so-called H-type TEF is that without esophageal atresia, and its prevalence is lower than 5% of all TEFs. We present a case report of a newborn with regurgitation, vomiting, feeding problems, dyspnea, and repeated aspiration bronchopneumonia. A wide range of diagnostics procedures had been performed with negative results until we used videofluoroscopy, which revealed the H-type TEF and allowed appropriate treatment of the patient.

Introduction

Despite advances in prenatal diagnosis, neonatal critical care, and surgical procedures, esophageal atresia remains one of the most challenging congenital anomalies of the newborn. ¹ It can occur with or without tracheoesophageal fistula (TEF). Universally recommended diagnostic procedures are still lacking. A TEF of the so-called H-type is one without esophageal atresia, the prevalence of which is lower than 5% of all TEFs. ² Early diagnosis of TEF is crucial to guide feeding and surgical repair as well as to prevent further complications that may include recurrent respiratory infections or death. Although patients consistently experience from birth coughing or choking episodes upon feeding and having recurrent respiratory infections, multiple factors make it challenging to determine a correct diagnosis. The fistulae are commonly small and inconsistently patent. The oblique configuration of the H-shaped TEF and close apposition of the trachea and esophagus make it difficult to appreciate radiologically. Moreover, the redundant nature of normal esophageal mucosa may transiently occlude the fistula. ³

As a result, repeated radiological investigations using esophageal studies may be required to make a definitive diagnosis. ⁴ Special positioning and contrast delivery techniques have been described as aiding in radiological diagnosis of this condition. Although videofluoroscopy swallowing studies (VFSS) are performed primarily to evaluate oral, pharyngeal, and upper esophageal swallowing function, our case report illustrates the importance of carefully reviewing the images to ensure that uncommon diagnoses such as a TEF are not missed.

Case Report

The patient was born from a second pregnancy as a diamniotic, monochorionic twin to nonconsanguineous Caucasian parents. Disproportionate twin growth was present, but no twin-to-twin transfusion syndrome was observed. At 35 weeks of pregnancy, premature rupture of membranes of the first twin occurred, at which time the patient was born by Cesarean section as twin A. The Apgar score was of no physiological concern (10-10-10), umbilical pH 7.32, and base excess −2 mmol/L. Birth length was 42 cm and birth weight was 1620 g, therefore, corresponding to hypotrophy (below the 10th percentile). Immediately after delivery, the patient was without serious breathing difficulties. Already in the first hours, however, blue-gray appearance gradually occurred, with audible wet phenomena during lung auscultation. Antibiotics (third-generation cephalosporins) were used on the second day of life due to suspicion of adnate infection. Gradually, an association of breathing problems with food intake was observed: When the patient was fed from a bottle and after only a small amount had been consumed, he coughed and turned blue-gray color. Gastroesophageal reflux disease (GERD), discoordination of the swallowing act by the esophagus, or the possibility of a TEF was considered. If the child was fed via nasogastric tube, the problem was better, but every dose was repeatedly followed by lower oxygen saturation. Due to this problem, the patient was indicated for examination of the swallowing act and to rule out TEF. Therefore, the patient was sent to our tertiary center.

We provided a swallow test using barium. We then performed flexible and rigid tracheobronchoscopy and esophagoscopy. There were no signs of fistula during all examinations. No macroscopic or microscopic signs of esophagitis were evident in the esophagus. Brain ultrasound and neurological examination were with no pathology. The cardiological examination was normal, as was a basic examination of immune parameters. Proton pump inhibitors and prokinetics were also ineffective. We further used the nasoduodenal tube for feeding by amino acid formula, in which case the problems were not so serious but nevertheless persisted. Moreover, the patient repeatedly had aspiratory pneumonia, on one occasion with the need for artificial lung ventilation. Accordingly, we considered performing gastric fundoplication. Nevertheless, on the recommendation of a clinical speech therapist, we still decided to conduct a VFSS. During the examination, in one of the video loops for which thin fluids was administered, a thick sliver of contrast medium was seen to enter the upper trachea from the upper esophagus (Figure 1 and Video—supplementary material). An H-type TEF was suspected and the study was aborted. The pediatrician, otorhinolaryngologist, and surgeon were urgently informed of this finding. We provided a new tracheobronchoscopy with rigid tubes and succeeded to localize an orifice of the fistula. It was located just 1 to 1.5 cm beneath the vocal cords (Figure 2), which is a very rare localization.

Figure 1.

Videofluoroscopy: regurgitation of fluid from esophagus into the trachea through tracheoesophageal fistula. TE fistula, esophagus.

Figure 2.

Tracheoscopy: tracheal lumen, anterior wall, posterior wall, tracheoesophageal fistula.

Surgical repair of the fistula was made by an experienced pediatric surgeon. The fistula was very thick (Figure 3). We extubated the patient on the second day after surgery, and feeding by nasogastric tube was provided for the next 6 days. Thereafter, we slowly started with oral feeding without any additional complications.

Figure 3.

Surgery of tracheoesophageal fistula: inferior part of neck, superior part of neck, anterior part of neck, posterior part of neck, esophagus, trachea, tracheoesophageal fistula.

At 1 year of age, the psychomotor development of the child continues successfully, the patient shows no signs of failure to thrive, and there are no feeding problems. The patient is and will continue to be cared for by individual specialists (pediatrician, gastroenterologist, nutritionist, otorhinolaryngologist, and neurologist).

Discussion/Conclusion

In neonates with regurgitation or vomiting, a diagnosis other than gastroesophageal reflux (GER) or GERD should be considered, especially in the presence of life-threatening symptoms. H-type TEF is a very rare anomaly for the determination of which there are no universally recommended diagnostic procedures. Diagnostic testing includes modified barium swallow or fiber optic endoscopic evaluation of swallowing, both of which assess swallowing function. ^5,6 No study has compared the sensitivity of these tests in the TEF population. Therefore, diagnostic evaluation of the larynx and vocal cord evaluation by an otolaryngologist should be included. A rigid bronchoscopy by a pulmonologist, otolaryngologist, or surgeon should also be performed to rule out a recurrent or missed fistula and to evaluate the degree of tracheomalacia. ⁷ Magnetic resonance imaging is an important tool in identifying anomalies of the aortic arch and its branches and might be considered as the imaging technique of choice when planning surgical management, especially in cases of associated cardiac anomalies. However, the evidence from the literature and our personal experience on the routine use of magnetic resonance imaging in the preoperative workup of esophageal atresia patients (with or without TEF) is limited. Moreover, there is no official recommendation to use MRI as a standard diagnostic procedure. ⁸ In our tertiary center, we use a standard diagnostic process consisting of tracheobronchoscopy, esophagoscopy, and barium swallow esophagography. H-type TEF is commonly small and inconsistently patent, so the diagnosis can be very difficult.

In cases of suspected GER and absence of alarm signs, modification of feeding volumes and frequency to avoid overfeeding as well as thickened feedings for treating visible regurgitation and/or vomiting are recommended. ⁹ The possibility of cow’s milk protein allergy should be considered in the differential diagnosis. In more severe cases, pharmacological therapy is also considered, but the benefits of proton pump inhibitors and H2 receptor antagonists are uncertain. In the case of serious, life-threatening conditions, gastric fundoplication should be considered, ⁹ although this can be accompanied by several possible and potentially serious complications. ¹⁰ Some studies report that up to two-thirds of patients require pharmacotherapy as early as 2 months after surgery. In children, the results are even poorer than in adults.

In our case, the patient was a newborn with life-threatening symptoms, upon which basis it was decided that fundoplication could be appropriate considering the ineffectiveness of symptomatic therapy and of transpyloric/jejunal feeding and the exclusion thus far of other possible causes, including TEF. Fortunately, the VFSS revealed that the true cause of the problem was the H-type TEF. This knowledge allowed us to perform adequate therapy with excellent results and benefits to the patient.

Videofluoroscopy at a neonatal age can be considered as a method of choice in the diagnosis of swallowing disorders and other conditions, as well, especially in a newborn with life-threatening symptoms and unclear diagnosis.