Introduction

Achalasia is a primary esophageal motility disorder characterized by the failure of the lower esophageal sphincter (LES) to relax in response to swallowing, along with weak to absent esophageal peristalsis. This disorder is uncommon, though well documented in literature for over 300 years (1), and causes a significant impairment of eating ability, thereby adversely impacting the quality of life (2).

The pathophysiological basis of this disorder include a loss of inhibitory function affecting the esophageal myenteric nerves which result in loss of esophageal peristalsis and inadequate relaxation of the lower esophageal sphincter (LES), thereby resulting in a functional obstruction (2).Rarely, in advanced cases, the condition may manifest as a “sigmoid esophagus,” which is a term that has been coined to describe the dilation and distortion of the cervical esophagus (3).

In this report, we present one such case of a 36-year-old male in whom sigmoid esophagus was successfully diagnosed and then managed by a minimally invasive surgical approach uneventfully. The case is presented because of the rare nature of this disorder.

Case Presentation

A 36-year-old male reported with persistent burning sensation in the chest, difficulty in swallowing food and regurgitation of undigested food, off and on, for more than a year. He had been consuming over-the-counter H2 blockers and proton pump inhibitors but achieving partial relief only. He had no significant past medical or surgical history. He was a non-smoker and had no addictions.

A barium esophagogram (Figures A, B, and C) revealed a significantly dilated esophagus with tapering of the distal esophagus. Esophageal mucosa displayed irregular distortion with focal areas of hypertrophy, but no definite pouch or diverticula was noted. Incomplete LES relaxation was demonstrated that was not coordinated with esophageal contraction, followed by uncoordinated, non-propulsive, tertiary contractions. Furthermore, there was a failure of normal peristalsis to clear the esophagus of barium when the patient lay in the recumbent position, with no identification of primary waves. There were no persistent filling defects, abnormal shouldering, nor any evidence of hiatus hernia.

Esophagogastroduodenoscopy (EGD) revealed a dilated esophagus with a very tight lower esophageal sphincter (Figures D, E, and F). No ulcerative or mass lesion was seen. The findings were deemed to be consistent with achalasia cardia. The patient was attached to the services of a tertiary care facility with board-certified upper gastrointestinal surgeons. An axial CT scan of the chest with contrast was advised, which revealed marked dilatation of the entire esophagus (maximum 87 mm) down to the gastroesophageal junction with stagnant food and fluid levels. The entire dilated esophagus appeared folded with diffuse wall thickening with mass effect upon the related mediastinum structures and lung parenchyma. After proper counselling, laparoscopic Heller’s myotomy (LHM) procedure was undertaken as a definitive management option. The postoperative phase was uneventful. At six months after surgery, the patient was asymptomatic and highly satisfied with the outcomes. A Gastrografin esophagogram study was undertaken under fluoroscopic guidance (Figure 1 G, H, I). There was evidence of a dilated esophagus with a tortuous and dilated lower third of the esophagus with minimal pooling of contrast in its tortuous segment and decreased peristalsis. However, there was free passage of contrast into the stomach and small bowel loops. No gross filling defect or esophageal web was documented.

Figure 1: A, B, C - Preoperative Barium esophagogram; D, E, F – Preoperative esophagogastroduodenoscopy; G, H, I – Postoperative (6 months) Gastrografin esophagogram study, undertaken under fluoroscopic guidance.

Discussion

Achalasia is a very rare disorder, with an incidence and a prevalence of about 1 per 100000 population and 10 per 100000, respectively. The disease is found across all the races and equally in both the genders. The patients typically present between the second and the fifth decade of life, though 2%-5% of cases do occur in the paediatric age group (4).

The successful transport of food from the mouth to the stomach, while preventing its reflux from the stomach, is a result of the coordinated peristalsis in the pharynx and esophagus along with the relaxation of the upper and lower esophageal sphincters (LES), brought about by the modulatory action of the parasympathetic excitatory and inhibitory pathways (myenteric plexus) that innervate the smooth muscles of the lower esophageal sphincter. Patients with achalasia lack the inhibitory ganglion cells while retaining the normal excitatory neurons and thence suffer from an imbalance of inhibitory and excitatory neurotransmission with a resultant non-relaxed hypertensive LES (3). Functional obstruction ensues, and gradually the esophagus dilates, leading to uncoordinated aperistalsis and worsening obstructive symptoms (2,3), as is evident in the imaging studies (Figure 1) of our presented case report.

The majority of patients with achalasia present with dysphagia and/or regurgitation. Other symptoms include chest discomfort, nocturnal cough, heartburn, hiccups, and weight loss. When achalasia is suspected, a barium esophagogram (barium swallow) is conducted, which reveals the smooth tapering of the lower esophagus to a “bird’s beak” appearance, with dilatation of the proximal esophagus, lack of peristalsis during fluoroscopy, and an air-fluid level (5). In advanced disease, a sigmoid-like appearance of the esophagus may be visible, as was seen in the images recorded in the presented case (Figure 1 A-C). Esophagogastroduodenoscopy (EGD) is recommended in all patients presenting with dysphagia to exclude any neoplastic lesions involving the esophagus (6). EGD otherwise has low accuracy in the diagnosis of achalasia and may not reveal any abnormal normal findings in the earlier stages of the disease. In advanced cases, the esophagus may appear dilated, tortuous, and atonic, with retained food contents, as was documented in our presented case (Figure 1 D, E, F). High-resolution esophageal manometry (HRM) is a sensitive test for the diagnosis of achalasia and reveals an increase in pressure of the LES with incomplete relaxation in response to swallowing and, in most cases, a lack of coordinated peristalsis in the lower esophagus (7). Manometric findings can aid in the determination of prognosis and appropriate treatment modalities.

Once malignancy has been ruled out, management aims at easing the symptoms of achalasia by decreasing the outflow resistance through nonsurgical or surgical modalities (8-9). The nonsurgical options are effective in early stages and include pharmacotherapy, endoscopic botulinum toxin injection, and pneumatic dilatation, whereas the surgical options include laparoscopic Heller myotomy (LHM) and peroral endoscopic myotomy (POEM). In our case, LHM was conducted uneventfully, and the patient was symptom-free at 6 months follow-up after surgery. In LHM, the circular muscle fibers running across the lower esophageal sphincter are cut, leading to relaxation (9) . LHM can potentially cause uncontrolled gastroesophageal reflux, so it typically pairs with an anti-reflux procedure (partial fundoplication). The clinical success rate of LHM is reported to be high (76 to 100%) at three years, with a low mortality rate of 0.1%. Even after successful treatment, the patients require long-term follow-up because all available treatments are palliative, making recurrences common, and secondly, there is a small risk of malignancy (7-10).

Conclusion

Sigmoid esophagus is a manifestation of an advanced stage of achalasia. It is rare in occurrence. After ruling out malignancy, laparoscopic Heller myotomy is an effective and safe management option. Postoperatively, the patients require long-term follow-up for early detection of recurrence, reflux, or malignancy.

Acknowledgements

The patient provided us with his case history and photos for academic purposes, including publishing in a peer-reviewed journal, for which the authors are grateful.

References

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