Volume 5, Issue 4 , Pages 162-164, December 2010
Congenital esophageal duplication cyst: A rare cause of infantile stridor and a diagnostic challenge
Article Outline
Abstract
Duplication cyst of the cervical esophagus represents a rare congenital anomaly. The children with esophageal duplication cyst usually present with respiratory distress or as asymptomatic thoracic mass found on incidental chest X-ray. We here present a case of a 3-month-old male infant who presented with noisy breathing and progressive respiratory distress and with no other abnormality. After laryngoscopy, barium esophagography and MRI study, congenital esophageal duplication cyst was diagnosed. Transcervical excision of the cyst was done using a harmonic scalpel. Histopathological examination of the specimen confirmed the diagnosis. The patient remains asymptomatic after one year of follow up.
Keywords: Duplication, Cyst, Esophagus, Stridor, Barium esophagography
1. Introduction
Duplication cyst of the cervical esophagus represents a rare congenital foregut anomaly. Its incidence has been observed as 1/8200 live births [1]. Esophageal duplication cysts account for 0.5–2.5% of all tumors or tumor-like lesions of the esophagus, and about 20% of all gastrointestinal tract duplications [2]. It has a male preponderance [1]. During 7th week of intrauterine life, the epithelium of esophageal lumen proliferates until the lumen is filled with cells. Irregular spaces within the cellular mass form communication spaces or vacuoles. These spaces coalesce and a single lumen is restored. It has been postulated that congenital esophageal duplication cysts are formed due to failure of recanalisation of the foregut lumen completely between 5th and 8th week of intrauterine life [3]. The location of the cyst, size of the cyst, presence and communication with broncho-pulmonary anomalies, presence or absence of complications are some of the factors which determine the timing and severity of presenting symptoms. To our knowledge only a few cases of neonatal esophageal duplication cyst presenting with progressively increasing noisy breathing have been described in the literature previously. The condition is rare but needs early and correct identification to avoid complications and perinatal morbidity and mortality.
2. Case-report
A 3-month-old male infant presented to the outpatient clinic, with history of noisy breathing which was initially episodic and used to aggravate with attacks of upper respiratory tract infections. The child was treated for respiratory tract infection. The breathing progressively over weeks became more noisy and continuous and was worse at night. There was no episode of apnoea or cyanosis. There were also no complaints of regurgitation of feeds, repeated cough or frothy sputum. The child was otherwise thriving well. Because of the progressive deterioration in breathing, he was admitted to the hospital for investigations.
Physical examination revealed mild-moderate biphasic stridor, with no effect of change of posture. Bilateral nasal and oral examinations were normal. Direct laryngosopic evaluation under intravenous anaesthesia revealed a normal supraglottis and glottis with no subglottic or tracheal luminal compromise. Subsequently barium esophagography was done which showed a soft tissue mass filled with the contrast, lying between the esophagus and trachea on the right side (Fig. 1). Magnetic resonance imaging of the neck also revealed that this mass was lying between the trachea and esophagus, involving the lower cervical portion of the esophagus and pushing the trachea more towards the left side. There was extraluminal tracheal compression evident on the MRI (Fig. 2, Fig. 3, Fig. 4).
Fig. 1.
Barium esophagography showing deviation of the esophagus by the duplication cyst.
Fig. 2.
MRI contrast scan showing the duplication cyst on the right lying between esophagus and trachea (axial view).
Fig. 3.
MRI contrast scan showing the duplication cyst on the right lying between esophagus and trachea, and pushing the trachea towards left side (axial view).
Fig. 4.
MRI contrast scan showing the duplication cyst (coronal view).
Subsequently a diagnosis of Esophageal duplication cyst was made. A right cervical skin crease incision was used to approach the cyst. The cyst was 6
cm×2cm in size, lying between the trachea and esophageal wall. It was extending inferiorly till the apex of the posterior mediastinum. The cyst wall was 3mm thick and contained infected food particles. There was a sizeable communication of the cyst cavity with the esophageal lumen. The cyst was excised meticulously from the esophageal wall using harmonic scalpel blade (Fig. 5). Primary esophageal repair was possible due to lax musculature of the esophageal wall, which was done using 4-0 vikryl over a infant feeding tube. A suction drain was inserted to drain the neck wound. Histopathological examination of the cyst wall revealed a fibrous connective tissue wall with smooth musle component. There was chronic inflammatory infiltrate in the submucosa. The infant was observed in the intensive unit for 24h postoperatively and then transferred to the ward. The recovery was uneventful and the child was discharged 10 days after surgery. One year postoperatively the patient is asymptomatic and the follow up MRI Scan was normal.
Fig. 5.
Postoperative specimen of the esophageal duplication cyst after excision.
3. Discussion
Mediastinal cysts in the foregut are usually divided into 3 types: Bronchogenic, Enterogenic, and Intramural [4]. Of these the enterogenic cysts are intimately attached to the alimentary tract but do not usually communicate with the lumen. They are lined by mucous membrane and have smooth muscle in the wall [5]. Intramural cysts lie within the esophageal lumen and are lined with ciliated columnar epithelium [4], [5]. These cysts may communicate with the tracheo-bronchial tree or the spinal canal. There may also be associated pericardial defects [6]. Occasionally the cyst may contain ectopic gastric mucosa and may present with ulceration and bleeding [7]. Esophageal duplication cyst is a rare entity and may be associated with duplication cysts elsewhere in the alimentary tract also [5]. Enterogenic esophageal duplication cyst can be classified as either Tubular or Cystic [8]. Although most duplication cysts are non-communicating, tubular duplications may occasionally communicate directly with the esophageal lumen [9]. In our case the cyst was communicating with esophageal lumen, as evident on imaging and intra-operative findings. Various theories of origin of these cysts have been put forward from time to time but the most accepted one postulates that congenital esophageal duplication cysts are formed due to failure of recanalisation of the foregut lumen completely between 5th and 8th week of intrauterine life [3]. Most cases present in childhood, but may be asymptomatic for many years and found only incidentally. When they present in early childhood, the symptoms are related to compression of mediastinal structures and include respiratory distress, regurgitation, dysphagia, vascular compression and engorgement of face and neck [4], [5], [8]. The child may present with failure to thrive. Chest X-ray films may show tracheal displacement and narrowing. Esophagoscopy may show airway displacement or a tracheo-esophageal fistula. Barium esophagography is very useful in highlighting the esophageal lumen and the wall, which is distorted by the cyst. CT and MRI scans may show the characteristic cystic mass as well as the displacement of surrounding visceral structures. In a T2-weighted MR imaging, duplication cysts may show bright signal intensity and a well-defined margin [10].
It is important to exclude the other more common causes of respiratory distress in children like epiglottitis, laryngotracheobronchitis, foreign body aspiration and laryngo-tracheal injuries. If a child had prolonged endotracheal intubation then subglottic stenosis should be ruled out. Causes of lower airway obstruction like bronchiolitis, bronchitis, asthma and tracheo-bronchial malacia also need to be ruled out. Other congenital conditions although rare, like mediastinal tumours, vascular rings, hemangiomas and fistulas should also be kept in mind.
Congenital esophageal diverticulum found in mid-esophageal region are true diverticulum containing all the layers [11], [12]. Most of these are found to be associated with tracheo-esophageal fistula. The diverticulum found in cervical esophagus at the crico-pharyngeal region are pulsion diverticulum and they consist only of mucosa, without a muscle layer [10]. Diverticula present with symptoms like regurgitation of feeds, cough, respiratory distress [12].
Treatment of esophageal duplication cyst is excision either via a Transcervical approach or a Posterolateral Thoracotomy, depending on the site and size of the cyst [4], [5]. In our case a low cervical incision was adopted and a close dissection of the cyst from the trachea and the esophageal wall was thus possible. It is also necessary to remove all the cyst wall with its mucosa to prevent recurrence [13]. Most adult patients who have undergone this operation have an unstable trachea and require postoperative intubation for some time otherwise respiratory distress is seen to result. Other modes of treatment like Marsupialisation, Internal drainage or Cauterisation of the cyst are better avoided as they are ineffective and may prove to be dangerous [4], [5].
The seemingly defying presentation in an infant with respiratory distress with repeated attacks of upper respiratory infections, no symptom pertaining to the food passage, rarity of the condition and paucity of documentation of the condition in an infant in India had prompted us to report this case.
Competing interests
None.
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PII: S1871-4048(09)00054-9
doi:10.1016/j.pedex.2009.09.001
© 2009 Elsevier Ireland Ltd. All rights reserved.
Volume 5, Issue 4 , Pages 162-164, December 2010
