Clinical Case Summary

A 27-year-old female affected by of axonal polyneuropathy presented to our center with a 36 months history of progressive dysphagia and weight loss. High Resolution Manometry (HRM), timed barium esophagram, and esophagogastroduodenoscopy (EGD) were coherent with the diagnosis of type II Achalasia. Eckardt score was 8. Peroral Endoscopic Myotomy (POEM) was successfully performed. The procedure included an anterior, selective circular, 9cm myotomy and lasted 25 minutes. No adverse events were recorded. At the 6-month follow-up, the patient had gained 11 kg (BMI 18,7) and had no dysphagia or GERD symptoms. At HRM, 4sIRP was 0.9 mmHg. At EGD and 24-h pH-monitoring study were negative for GERD.5 years later the patient was asymptomatic, but a Los Angeles-Grade B esophagitis was diagnosed. Esomeprazole 40mg once daily was prescribed.During the follow-up, patient was diagnosed with Charcot-Marie-Tooth disease, variant 2F; a mutation in HSPB1 gene (c.570G>C variant) was found. Patient is currently receiving physiotherapy with partial control of neurological symptoms.This is the first case described in literature of a patient with both Charcot-Marie-Tooth disease and Achalasia .Clear associations between achalasia and CMT disease are far to be identified and clarified. Notwithstanding both disorders are caused by a neuronal damage and degeneration, known pathophysiological pathways differ substantially in the two diseases, making the case of our patient more likely a purely casual association of rare diseases than a complex syndrome.Nevertheless, previous small cohort studies suggested higher prevalence of neurodegenerative disease in patients with achalasia than in general population. These results warrant confirmation in large population-based study. However, being etiopathology of achalasia largely unknown, further investigations of possible shared pathophysiologic traits may help to better understand this disease and might lead to a change in its treatment paradigm.

References

1. Savarino E, et al. Achalasia. Nat Rev Dis Primers. 2022 May 5;8(1):28. doi: 10.1038/s41572-022-00356-8. PMID: 35513420.
2. Inoue H, et al. Peroral endoscopic myotomy for esophageal achalasia: technique, indication, and outcomes. Thorac Surg Clin. 2011 Nov;21(4):519-25. doi: 10.1016/j.thorsurg.2011.08.005. PMID: 22040634.
3. Evgrafov, et al. 2004. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat. Genet. 36, 602–606
4. Taga A, et al. A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature. J Peripher Nerv Syst. 2020 Sep;25(3):223-229. doi: 10.1111/jns.12395. Epub 2020 Jul 8. PMID: 32639100.
5. Jerie M, et al. Prevalence of neurodegenerative/demyelinating disorders in patients with achalasia. Transl Neurosci. 2022 Oct 10;13(1):361-368. doi: 10.1515/tnsci-2022-0249. PMID: 36304096; PMCID: PMC9552774.
6. Khoury ST, et al. The possible association between neurodegenerative/demyelinating neurological disorders in achalasia patients. Transl Neurosci. 2022 Dec 31;13(1):514-515. doi: 10.1515/tnsci-2022-0269. PMID: 36660005; PMCID: PMC9816455.

Disclosure

The authors declare that they have no conflict of interest.

Introduction

Per-Oral Endoscopic Myotomy (POEM) was introduced in clinical practice few years ago, and quickly become one of the first line treatments of esophageal motility disorders. We report on the outcomes of the first 1000 patients treated with POEM in a single tertiary referral center during 11 years.

Aims & Methods

The first 1000 patients treated with POEM between May 2011 and September 2022 were identified from a prospective database and included in this study.
Demographics, clinical and technical aspects and follow-up data were collected and analysed. After treatment, patients underwent a regular follow-up, after 6 month, 2 years, 5 years and 10 years. Additional follow-up visits were performed, if clinically indicated. Timed Barium Esophagram, EGD, and esophageal manometry were performed before endoscopic treatment and during post-operative follow-up; a 24-hour esophageal pH monitoring study was performed 6 months after POEM.
Clinical failure was defined by and Eckardt score > 3 and by the need for additional treatments.

Results

Mean age of patients was 51.5 years; 36 patients were younger than 18 years and 157 older than 70 years. Four-hundred ninety-eight patients were male. One hundred seventy-seven patients had received previous treatments for achalasia (110 pneumodilation, 46 surgical myotomy; 21 botulinum toxin injection).
A total of 141 patients had a type I achalasia, 626 a type II, 111% a type III, 30 non-achalasia spastic esophageal motility disorders; in 92 patients achalasia type were not adequately classified. A sigmoid-type esophagus was present in 45 patients.
Mean symptoms duration before POEM was 24±64.6 months.
POEM was technically successful in 979 patients.
The median length of myotomy was 8.0 cm (range 4-22 cm) in the esophagus and 3.1 cm (range 0-7 cm) in the stomach. An anterior myotomy was performed in the 83% of patients. Mean operative time was 50.4 minutes (11–180 minutes).
Length of hospital stay was a mean of 2.5 days (range 1 to 48 days) after POEM.
Mild or moderate complications occurred in 28 patients (2.8%) and were managed conservatively. Severe complications occurred in 2 patients and required prolongation of hospital stay and other interventional treatment. There were no perioperative deaths in our series.
A mean follow-up of 30.4 months (3–130 months) was available for 93.8% of patients. Overall clinical success rate (Eckardt score ≤ 3) was 95.1%. Clinical success was 97.3%, 95.2%, 90.8% and 82% after 6 months, 2 years, 5 years and 10 years, respectively.
Thirty-three patients (70.2 %) with clinical failure underwent pneumodilation (78.8% with persisting clinical benefits); 5 patients (10.6% underwent surgery), one (2.1%) underwent re-POEM.
Clinical success was 93.4% in achalasia-patients and 83.3% in those with spastic motility disorders (p=0.1742).
An altered esophageal pH-study was documented in 32.6% patients; esophagitis rate was 34% (88% grade A/B; 12% grade C/D). At the date of the last follow-up, 38% of patients was receiving daily proton-pump inhibitors for gastroesophageal reflux. Two patients underwent antireflux surgery. Non cases of post-operative Barrett esophagus were identified.

Conclusion

Our results confirm the efficacy of POEM in a large cohort of patients. Benefits of POEM seem durable; adverse events are rare and no specific mortality was reported. Prevalence of GERD is relatively high, but well controlled by medications in the vast majority of patients.

Introduction

Zenker’s diverticulum (ZD) is an acquired herniation of the posterior hypopharyngeal wall through the Killian’s triangle. ZD may be cause of dysphagia, regurgitation, cough and potentially life-threatening conditions, such as aspiration pneumonia. Peroral Endoscopic Myotomy (Z-POEM) has been recently used for the management of ZD as an alternative to flexible endoscope septotomy and to the open or transoral surgery. We report on the results of Z-POEM in a consecutive series of patients treated in a single referral centre.

Aims & Methods

All the patients who underwent Z-POEM between October 2020 and March 2023 were retrospectively identified. Demographics, clinical and technical aspects were retrieved from a prospectively collected database. After treatment, patients underwent a close clinical and endoscopic follow-up: technical success, incidence of adverse events and symptoms recurrence were calculated 1, 6 and 12 months after treatment.
All procedures were performed under general anaesthesia with endotracheal intubation. An high-definition endoscope with a transparent distal hood was used. Low-flow carbon dioxide insufflation was used instead of room air. A triangle-tip knife (TT-knife; Olympus Co.) and swift coagulation mode were used for both submucosal dissection and myotomy. The procedure included: 1) identification of cricopharyngeal muscle and the septum of the ZD; 2) submucosal lifting directly on the septum of the ZD and mucosal incision on the septum of the diverticulum; 3) dissection of the submucosa , on the diverticular and esophageal side; 4) myotomy of cricopharyngeal muscle and of the proximal part of the esophageal muscularis propria until the bottom of the diverticulum; 5) closure of the mucosal entry with clips.

Results

Fifty Z-POEM were performed on 49 patients. Thirty patients were males (73.2%), with a mean age of 71.3±9.8 years. The mean length of ZD was 15.3±8.6 mm. The mean length of myotomy was 18.2±7.4 mm, the mucosal entry site was closed with 3.3±0.6 clips. Mean procedure time was 16.6±6.3 minutes. Technical success rate was 96% (48/50). Intraprocedural, mild, complications occurred in two patients (one bleeding and one mucosal perforation) and were treated intraoperatively. A severe complication (oesophageal perforation) occurred in one patient (2%) and required surgery. A substantial decrease in Kothari-Haber score was observed 1 month (6.3±2.2 vs 1±1.3 P < 0.0001), 6 months (6.3±2.2 vs 1.6±1.6 P < 0.0001) and 12 months (6.3±2.2 vs 2±1.6 P = 0.0004) after treatment. Clinical success was achieved in 89.6% of patients. Three patients underwent a successful endoscopic retreatment (2 flexible endoscope septotomies and 1 Z-POEM) after 1, 6 and 7 months, respectively.

Conclusion

Z-POEM is a promising technique for the treatment of ZD. Larger studies with a long follow-up and comparative trials are necessary to assess its role in the management of ZD.

Clinical Case Summary

Background and Aims: A 66-year-old woman was referred to our center for a recent diagnosis of type 2 achalasia non-responsive to endoscopic dilatation (up to 35 mm). She reported the onset of daily dysphagia 5 years before and 8 kg weight loss, daily regurgitation and occasional chest pain (Eckdart score 7/12). Barium swallow videofluoroscopy showed normal transit through esophageal-gastric junction and upper GI endoscopy was normal.
Methods: Due to the lack of clinical response to endoscopic dilatation, the patient was referred to our center to perform Per Oral Endoscopic Myotomy (POEM).
We repeated a radiologic study of the esophageal transit and the upper endoscopy with esophageal biopsies.
Results: The radiologic study of the esophageal transit showed mild dilation of the proximal tract associated with dyskinesia of the mid-distal portion and asynchronous tertiary contractions without closed stenosis of the lower esophageal sphincter (LES).
In the endoscopy, the esophagus was macroscopically normal. The histological examination of esophageal biopsies showed numerous intraepithelial CD3 positive T lymphocytes predominantly located in the lower-middle compartment of the epithelium (> 200/HPF). The histologic finding was highly suspected for lymphocytic esophagitis and we decided to start with topic steroid therapy with galenic budesonide (2 mg/die) with symptomatic improvement after two months. We will perform endoscopic and histologic evaluation 3 months after the start of therapy.
Conclusion: This case report is an example of lymphocytic esophagitis with a dysmotility-like onset. This condition generally affects old women and, the most common symptom is the dysphagia and food impaction. Therefore is fundamental to perform always upper GI endoscopy with esophageal biopsies to complete the diagnostic flowchart to exclude eosinophilic and non-eosinophilic esophagitis in patients complaining with symptoms of esophageal dysfunction.

Clinical Case Summary

Achalasia is a rare esophageal motility disorder in children, with an estimated incidence of 0.02–0.11 per 100,000. The condition leads to failure of lower esophageal sphincter (LES) relaxation and absence of peristalsis, often resulting in feeding difficulties, vomiting, and growth retardation. Conventional treatments such as pneumatic balloon dilatation (PD) are often ineffective in very young children due to technical limitations and high recurrence rates. Peroral endoscopic myotomy (POEM) has emerged as a minimally invasive alternative, but data in the pediatric population, particularly in children under 3 years, are limited.
We present a 2-year-old boy with persistent vomiting, dysphagia, and failure to thrive. He weighed only 8 kg and had undergone two unsuccessful PD attempts. POEM was performed under general anesthesia using pediatric-modified technique: a 10-cm submucosal tunnel and 8-cm myotomy (5 cm selective, 3 cm full-thickness) were completed. Intraprocedural pneumoperitoneum was managed via Veress needle decompression. No complications occurred, and the child was discharged after 7 days. One month postoperatively, he gained 2 kg and achieved symptom resolution. Follow-up at 3 and 6 months showed continued weight gain and an Eckardt score improvement from 10 to 1.
This case highlights that POEM is feasible, effective, and safe even in very young and underweight children. It supports the expansion of POEM into earlier pediatric age groups, offering a durable alternative when conventional therapies fail.

References

1. Zhong C, Tan S, Huang S, et al. Clinical outcomes of peroral endoscopic myotomy for achalasia in children: A systematic review and meta-analysis. Dis Esophagus. 2021;34(4):1–11. doi:10.1093/dote/doaa112
2. Maselli R, Inoue H, Misawa M, et al. Peroral endoscopic myotomy (POEM) in a 3-year-old girl with severe growth retardation, achalasia, and Down syndrome. Endoscopy. 2012;44(Suppl 2):285–8. doi:10.1055/s-0032-1306696
3. Duman S, Yurci A, Cho JY. Peroral Endoscopic Myotomy (POEM) in a 19-Month-Old Girl with Primary Achalasia. J Dig Endosc. 2023;14(02):112–114. doi:10.1055/s-0043-1768544
4. Familiari P, Marchese M, Gigante G, et al. Peroral endoscopic myotomy for the treatment of achalasia in children. J Pediatr Gastroenterol Nutr. 2013;57(6):794–797. doi:10.1097/MPG.0b013e3182a80b13

Introduction

Idiopathic Achalasia is an esophageal motor disorder characterized by total aperistalsis of the esophageal body associated with insufficient relaxation of the lower esophageal sphincter (LES). Endoscopic treatment of achalasia is mainly done by per endoscopic myotomy (POEM) or pneumatic dilatation (PD). However, in case of failure, surgical treatment should be considered.

Aims & Methods

The objective of our work is to evaluate the efficacy of the treatment by (PD) as well as the predictive factors of success and failure.
Our work is a retrospective descriptive and analytical study, which spans a period of 15 years (from 2007 to 2022).This study included 120 patients who received treatment for their disease.
The ECKARDT score allows a clinical evaluation of the patients. It is based on endoscopic clinical data, the results of the manometry and those of the treatment by PD.

Results

We identified 120 patients. The average age was 45.1 years with (17 and 88 years). The sex distribution in our study was 55 men and 65 women with a sex ratio of 1.2 F/H.
Clinical signs found: dysphagia was found in all patients (100%), regurgitation was found in 35% of patients (n=42), weight loss was observed in 29% of patients (n=35), chest pain was found in 3.6% of patients (n=4). An EcKardt score more than 3 was observed in 79.1% of patients (n=95).
Manometry showed an increase in lower esophageal pressure in 5% of patients (n=6), incomplete relaxation of the lower esophageal sphincter in 10% of patients (n=12) and hypertonicity of the lower esophageal sphincter in 17.5% of patients (n=21). Achalasia type I was found in 5.8% of patients and type II in 7.5% of patients
Upper GI endoscopy revealed a sign of a protrusion in 61.7% of patients (n=74), a dilated esophagus with food stasis in 58.3% of patients (n=70), a negotiable stenosis in 25.8% of patients (n=30) and an impassable stenosis in 2.5% of patients (n=3).
Endoscopic treatment by pneumatic dilatation was initiated in 85.8% of patients (n=103) and surgical treatment in 4% of patients (n=5).
Of the 116 patients who received PD, 88.7% (n=103) went into remission and 8.3% (n=10) relapsed.
After a uni and multivariate analysis, the factors that predicted the success of pneumatic dilatation were: age under 40 years with a p=0.001 value, the aperectness of the esophageal body with a p=0.01 value.

Conclusion

In our study, the great majority of the patients benefited from a treatment by pneumatic dilatation with a success rate of 88.7%. We can therefore conclude that pneumatic dilatation remains the treatment of choice for the management of achalasia. The predictive factors of success are therefore the low age of the patients and the presence of esophageal aperistalsis.