Presentation and endoscopic resection technique of neonatal esophageal choristoma: A case report

Abstract

BACKGROUND

Esophageal choristoma is an exceptionally rare congenital non-malignant mass which may present with a range of symptoms and severity according to size, growth and location.

CASE SUMMARY

In this article, we describe the case of a 12-day-old patient with an esophageal choristoma. The patient presented to the hospital with intermittent episodes of protrusion of unidentified tissue through the mouth, along with apneic episodes and failure to thrive. The mass was subsequently identified as originating from the upper esophagus. Given the mass size and the severity of symptoms, a decision was made to perform a complete endoscopic mucosal resection, the first procedure of its kind. The intervention was successful, with no complications, and the infant achieved full recovery. The endoscopic approach chosen for this case is presented in detail along with the existing literature on the presentation and treatment of similar cases.

CONCLUSION

Endoscopic mucosal resection is feasible and curative in neonatal esophageal symptomatic masses.

Key Words: Esophagus; Choristoma; Endoscopic mucosal resection; Neonate; Apnea; Case report

Core Tip: Esophageal choristoma is an extremely rare congenital anomaly in neonates. This case report presents the clinical features, challenging yet successful diagnosis, and definitive treatment of a large esophageal choristoma in a 12-day-old infant. Notably, it describes the first documented case of complete endoscopic mucosal resection performed in a neonate using a slim endoscope, demonstrating endoscopic mucosal resection as a safe, effective, and minimally invasive curative option for pediatric esophageal masses.

INTRODUCTION

Choristoma is defined as an uncommon lesion composed of histologically normal tissue derived from germ cell layers that develops in an anatomically abnormal location. In the gastrointestinal tract, choristomas often consist of an abnormal mixture of cartilage and other mesenchymal tissue components in a polypoid (protruding) structure[1]. Choristoma can be found in different locations of the gastrointestinal tract, the duodenal bulb is the most frequent site, but it can also be found in the large intestine, rectum, anus and the esophagus[2]. Case reports indicate that benign esophageal masses, including choristomas, are typically symptomatic[3]. No data currently exist regarding the incidence or prevalence of esophageal choristomas, either in the general population or in neonates.

Overall, esophageal tumours in neonates are uncommon and can pose significant diagnostic and therapeutic challenges, particularly due to their potential to obstruct the airway and disrupt feeding. The differential diagnosis of esophageal benign masses in neonates and infants includes hemangioma, duplication cyst, leiomyoma, esophageal granular cell tumour and on rare occasions, esophageal choristoma. Malignant tumours include neuroblastoma and rhabdomyosarcoma. The management of asymptomatic, benign esophageal masses often involves a decision between conservative observation and proactive resection. However, in the presence of symptoms or suspicion of malignancy, removal is generally indicated. Two therapeutic modalities exist for such cases: Surgical excision, and endoscopic removal, a less common alternative. Endoscopic techniques have advanced significantly over the years, enabling precise excision with minimal invasiveness in both pediatric and adult patients, as demonstrated in published case reports and case series[4]. Herein, we present the case of the youngest reported neonate with a large polypoid esophageal choristoma who underwent successful endoscopic removal.

CASE PRESENTATION

Chief complaints

A 12-day-old full-term female infant presented with repeated episodes of choking and cyanosis.

History of present illness

Her parents reported intermittent protrusion of an unidentified tissue from her mouth. On admission, the infant’s weight was unchanged from birth (3.05 kg). Initial assessments by oral and maxillofacial surgery specialists did not reveal a definitive cause, so the infant was admitted to the pediatric ward for monitoring and further evaluation. Cardiac investigations were normal. After two stable days symptoms reappeared, vomiting, expulsion of tissue from the mouth (Figure 1), choking, and cyanosis with oxygen saturation dropping to 70%, which spontaneously resolved. Additional similar episodes were reported, prompting transfer to the pediatric intensive care unit for closer monitoring.

Figure 1 Photo of the infant on presentation. The neonate with a protruding mass through the mouth (blue arrow).

History of past illness

Pregnancy and delivery were unremarkable, and there was no history of polyhydramnios.

Personal and family history

The parents are not related, and there are no genetic diseases in the family.

Physical examination

Both the physical examination and the vital signs were within normal limits.

Laboratory examinations

Laboratory workup, including complete blood cell count, glucose, electrolytes, kidney and liver function, calcium, magnesium, phosphorus, albumin, blood gases, and coagulation tests, was normal. C-reactive protein, ammonia, and lactate levels were also within normal limits.

Imaging examinations

A fiber-optic airway examination showed no abnormalities. However, a neck magnetic resonance imaging, while normal in the cervical region, raised suspicion for a mass in the posterior upper mediastinum (Figure 2).

Figure 2 Magnetic resonance imaging images of the posterior mediastinal mass (blue arrows). A: T1_TSE_Cor sequence; B: T1_SE_Tra magnetic resonance imaging sequence.

FINAL DIAGNOSIS

Subsequent endoscopy revealed a pedunculated mass in the esophagus, likely arising from the upper esophagus or parapharyngeal region.

TREATMENT

At 19 days of age, the patient underwent therapeutic endoscopy under general anesthesia. Due to the narrow caliber of an infant’s esophagus, a standard gastroscope (8.9 mm diameter) could not be used. Instead, a slim endoscope (5.9 mm diameter) was required. This smaller scope is more challenging to maneuver, features a narrower working channel, necessitates specialized instruments compatible with its size, and offers a more limited range of endoscopic interventions.

First, a nasal endotracheal tube was inserted. After that, the slim scope was advanced down the esophagus alongside the longitudinal aspect of the mass which was lying in caudal orientation. A slim-scope size snare was used to flip the mass cephalad. Next, we attached, under vision, a hemoclip to the tip of the mass. The hemoclip secured a stitch wire which was used to exert traction on the mass, directing it upwards, and out the oral opening (Figure 3). Following, using a slim-scope sized injection needle, we injected the lesion’s base with an adrenaline-saline mixture (1 mg adrenaline in 10 mL normal saline, total of 2 mL) in order to raise the mass’s base, increase resectability, decrease risk of perforation and provide hemostasis. Then, we inserted a slim-scope size snare through the slim-scope and once the snare came out of the far end of the scope’s working channel, we slid the snare over the stitch-wire, the clip and the body of the lesion, until it reached the base of the mass. We used hot polypectomy technique to resect the mass (the settings used were ERBE viod 300 endocut Q, effect 2, cut duration 1, cut interval 6, upmax 770Vp). The mass was resected completely, with no immediate complications such as bleeding or perforation, confirmed by a second endoscopic look. The size of the lesion when it was excised was 4 cm × 1.5 cm. The details of the technique are presented in Figure 4. Three days later, a follow up gastroscopy revealed fibrin coverage at the resection site, indicating clean and adequate healing (Figure 3). The infant developed fever after the procedure and hence underwent full sepsis workup. Sputum cultures grew Escherichia coli and Staphylococcus aureus and on chest X-ray there was evidence of lobar pneumonia. The infant was treated with piperacillin/tazobactam and recovered fully.

Figure 3 Pre-resection positioning and early postoperative appearance. A: During the procedure, the mass was secured by a clip and stitch-wire, outside of the mouth; B: Fibrin covered clean base, 3 days following the resection of the mass.

Figure 4 Illustration of the procedure. A: A slim endoscope was advanced down the esophagus along the longitudinal axis of the mass, which was oriented caudally. A slim-scope compatible snare was used to flip the mass cephalad; B: A hemoclip was applied under direct vision to the tip of the mass. The hemoclip secured a suture wire, allowing upward traction to be exerted on the mass; C: An injection needle sized for the slim scope was used to inject the base of the lesion with an adrenaline-saline solution (1 mg adrenaline in 10 mL normal saline, total volume 2 mL) to create a submucosal lift; D: A slim-scope compatible snare was then inserted through the endoscope and advanced over the traction wire, the clip, and the mass body until it reached the lesion’s base; E: Resection of the mass was performed using a hot-polypectomy technique (ERBE VIO 300 Endocut Q, effect 2, cut duration 1, cut interval 6, maximum output 770).

OUTCOME AND FOLLOW-UP

Pathological analysis (Figure 5) demonstrated a 3 cm pedunculated polypoid mass lined by alternating esophageal and gastric mucosa. Foci of layered smooth muscle resembling muscularis propria with intervening ganglion cells were seen. In other areas salivary type glands were observed. In addition, foci of respiratory type epithelium and a cartilage island could be discerned. The findings were consistent with choristoma with tracheobronchial remnants. Importantly, the mass base margins were defined clear (consisting of esophageal mucosa and submucosa). Follow-up at two months showed the infant was thriving, with a weight increase from 3.06 kg to 5 kg and a normal gag reflex. At five-months follow-up, the mother reported occasional choking but noted the child was eating without issues and gaining weight nicely (weight for age increased from the 3^rd to the 50^th percentile). Examination showed a normal throat and that the gag reflex remained intact. Follow up at the age of 13 months showed normal eating and weight.

Figure 5 Pathology slices of the tumour. Hematoxylin and eosin-stained sections from esophageal choristoma. A: Sections show a mass lined mainly by gastric mucosa (left upper and right), with submucosal edema and dilated vascular channels (a); B: Respiratory type ciliated epithelium (arrow) is adjacent to gastric mucosa (g); C: Squamous epithelium is present (arrow); D: Additional features include cartilage plates consistent with tracheobronchial remnants (large arrowhead), and occasional salivary glands (arrow).

DISCUSSION

The case of a 12-day-old infant with esophageal choristoma highlights a rare and complex pathology posing diagnostic and therapeutic challenges. Choristomas, benign congenital lesions composed of heterotopic tissue, are exceedingly rare in the esophagus, with only few reported cases in the literature (Table 1)[3,5-14]. In children, esophageal masses present with varied symptoms, ranging from asymptomatic babies to choking, cyanosis, and failure to thrive[15]. As in this case, it is difficult to reach a diagnosis, given nonspecific symptoms and rarity of the cause. In our patient, several examinations reported no abnormal findings.

Table 1 Choristomas cases reported in the literature.

Ref.	Cases (n)	Age	Sex	Initial symptoms	Location	Histopathology findings	Treatment	Further treatment	Follow-up
Zhang et al[3], 2017	1	64 years	Female	Progressive foreign body sensation	Cervical esophagus	Proliferating hyaline cartilage cells	Transcervical esophagectomy	None	Uneventful recovery
Alobid et al[5], 2007	1	76 years	Male	Sudden dyspnea	Esophagus	Fibrovascular polyp	Endoscopic removal	None	Not specified
Marques Dos Santos et al[6], 2024	1	3 years	Female	Persistent food impaction since 9 months old	Esophagus	Chondroepithelial choristoma	Surgical correction	None	Not specified
Goldman and Ban[7], 1972	1	16 hours	Female	Esophageal atresia	Esophagus	Tracheobronchial remnants	Surgical management	None	Not specified
Beckerman et al[8], 1980	1	11 months	None	Dysphagia and continuous drooling	Esophagus	Fibromuscular hamartoma	Tracheostomy and feeding gastrostomy after surgery	None	16 months management
Halfhide et al[9], 1995	1	41 years	Male	Progressive dysphagia	Mid esophagus	Hamartoma	Surgical removal	None	Not specified
Coury et al[10], 2010	1	6 weeks	Female	Apnea and bradycardia	Esophagus	Hamartoma	Surgical resection	None	Not specified
Zhao and Zhu[11], 2022	1	46 years	Male	Incidental finding during gastroscopy	Left posterior wall of esophagus	Neuromuscular choristoma	Observation	None	No significant changes over 3 years
Tubino et al[12], 1982	1	Not specified	Not specified	Esophageal stenosis	Esophagus	Tracheobronchial remnants	Surgical correction	None	Not specified
Lakshman et al[13], 2023	1	46 years	Female	Chest pain	Middle third of esophagus	Pseudostratified ciliated columnar epithelium with respiratory mucinous glands and skeletal muscle	Surgical removal	None	None
Deiraniya[14], 1974	1	20 months	Male	Esophageal stenosis	Esophagus	Tracheobronchial remnants	Surgical treatment	None	Not specified

Surgical resection remains the definitive treatment for esophageal masses. However, endoscopic resection can potentially change management by avoiding surgical intervention in pediatric patients with esophageal masses. Endoscopic esophageal tumour resection in children has been reported once, in an adolescent[4]. In our case, therapeutic endoscopy was performed using a snare technique to excise the lesion. The procedure was facilitated by the injection of saline-adrenaline mixture to elevate the mass and minimize bleeding. The pathological confirmation of complete resection and the absence of post-procedure complications, such as esophageal perforation or significant haemorrhage, emphasize the efficacy and safety of endoscopic management when executed with appropriate precautions. This case is unique since it is the first ever documented case of endoscopic mucosal resection of an esophageal mass performed on a neonate, using a slim scope with endoscopic mucosal resection technique.

This approach stands in contrast to open surgical resection, which while effective, carries higher risks of morbidity, prolonged recovery and scarring. For instance, a systematic review analyzing outcomes after esophageal atresia repair reported high complication rates, including esophageal dysmotility in 78% of patients, gastroesophageal reflux disease in 43%, dysphagia in 44%, anastomotic leak in 19%, anastomotic stricture in 26%, and esophagitis in 47%[16]. The complete resolution of symptoms and rapid recovery of this patient support the growing preference for endoscopic methods in managing benign esophageal lesions.

Postoperatively, the infant developed pneumonia and was treated successfully with antibiotics. This complication can potentially result from either aspiration or anesthesia-related factors. Follow-up at two, five, and thirteen months demonstrated sustained improvement, marked by significant weight gain and resolution of major symptoms. These outcomes align with findings in the existing literature, where endoscopic resection of esophageal lesions is associated with excellent long-term prognosis; however, previously reported cases have been limited to adults[10], whereas this case involves a young pediatric patient. The American Society for Gastrointestinal Endoscopy supports the use of endoscopic resection of various benign and early malignant esophageal lesions, emphasizing its safety and efficacy[17]. Endoscopic mucosal resection has been performed in children, however only in the colon. This report carries limitations, including the limited generalizability of a single-case report and the lack of long-term follow-up. Nonetheless, it aims to raise clinical awareness of this rare condition and emphasize the potential of endoscopic management as a safe and effective treatment option in selected pediatric patients.

CONCLUSION

In summary, this case illustrates the importance of recognizing esophageal tumours in the differential diagnosis in neonates with unexplained choking and feeding difficulties. It also highlights the critical role of endoscopic techniques in achieving diagnosis and curative outcomes while minimizing procedural risks. Since it is likely that studies comparing surgical to endoscopic resection of pediatric esophageal masses will not be performed due to their rarity, case reports such as this case are expected to be the main literature source guiding future directions in managing these cases. We provide a detailed delineation of the procedure, to aid in planning intervention in similar cases. The choristoma’s benign nature in our case was confirmed histologically, showing no risk of recurrence as removed with clear margins. This outcome reinforces the need for a multidisciplinary approach that integrates advanced imaging, skilled endoscopic techniques, experienced pathologist and diligent post-procedure care.