Abnormal performance of peroral endoscopic myotomy (POEM): a case misdiagnosed as achalasia of cardia.

BACKGROUND: Pseudoachalasia is a rare disease that behaves similarly to achalasia (AC), making it sometimes difficult to differentiate. CASE PRESENTATION: We report a case of 49-year-old male with adenocarcinoma of the gastroesophageal junction misdiagnosed as achalasia. No obvious abnormalities were found in his initial examinations including upper digestive endoscopy, upper gastrointestinal imaging and chest computed tomography (CT). During the subsequent introduced-peroral endoscopic myotomy (POEM), it was found that the mucosal layer and the muscular layer had severe adhesion, which did not receive much attention, delayed the clear diagnosis and effect treatment, and ultimately led to a poor prognosis for the patient. CONCLUSIONS: This case suggests that when patients with AC found mucosal and muscular adhesions during POEM surgery, the possibility should be considered that the lesion may be caused by a malignant lesion.

Butterfly Wings Effect on High Resolution Manometry in A Patient with Esophageal Achalasia.

A 57-year-old man presented with dysphagia in solids and liquids deteriorating in the last months and weight loss of 3 kg. A thoracic CT revealed a limit dilatation of the lower esophagus with food residue. An upper endoscopy was performed revealing bubble content and a contraction of the Lower Esophageal Sphincter (LES). A barium esophagogram demonstrated deceleration of esophageal emptying and a bird beak sign indicative of esophageal achalasia (Figure A). High resolution esophageal manometry was performed to evaluate the subtype of achalasia. The catheter could not be intubated into the stomach because of LES spasticity, it folded back cephalad at this level, producing a mirror image, the characteristic "butterfly wings" appearance of a folded manometry catheter (Figure B).

Perioperative outcomes of the surgical management of achalasia in two tertiary Cameroonian hospitals: a cohort study.

INTRODUCTION: Achalasia is a rare esophageal disease with potentially lethal complications. Knowledge of the outcomes of the different surgical treatment modalities for achalasia by Heller's cardiomyotomy (HCM) helps to choose the safest and most effective option. However, data on the management of achalsia using a Heller myotomy is limited in Africa. Thus, our aim was to determine the perioperative morbidity, mortality and short-term functional outcomes of HCM in Cameroon. METHODOLOGY: We conducted a cohort study throughout a 10-year chart review of patients who underwent HCM for achalasia and were followed up postoperatively for at least three months at two tertiary health centers in Cameroon. We analyzed demographic data, preoperative clinical and imaging data, treatment details, and outcomes at three to twelve months after HCM using the Eckardt score. RESULTS: We enrolled 29 patients with achalasia having a mean age of 24 ± 16 years and predominantly females (M/F of 1/3.8). The mean symptom duration was 51 ± 20 months. In 80% of cases, the diagnosis was made through a conventional x-ray contrast imaging or "barium swallow test" (93%) and/or an upper gastrointestinal endoscopy (86%). The gold standard diagnostic method via esophageal manometry was unavailable. Preoperatievly, all patients had symptoms suggestive of an active achalasia. HCM was performed via laparotomy in 75% as opposed to 25% laparoscopic HCM procedures. Dor's anterior partial fundoplication was the main anti-reflux procedure performed (59%). Mucosal perforations were the only intraoperative complications in eight patients (2 during laparoscopy vs. 6 during laparotomy; p > 0.5) and were managed successfully by simple sutures. Postoperative complications were non-severe and occurred in 10% of patients all operated via laparotomy. The mean postoperative length of hospital stay was 7 ± 3 days for laparotomy vs. 5 ± 2 days for laparoscopy; p > 0.5. The perioperative mortality rate was nil. Overall, the short-term postoperative functional outcome was rated excellent; average Eckardt score of 1.5 ± 0.5 (vs. preoperative Eckardt Score of 9 ± 1; p < 0.0001). CONCLUSION: Achalasia is diagnosed late in this resource-limited setting. HCM yields satisfactory outcomes, especially via laparoscopic management. An improvement in diagnostic esophageal manometry and mini-invasive surgical infrastructure and the required surgical training/skills are needed for optimal achalasia care.

Autonomic Nervous System Dysfunction in Achalasia.

Background/Aims: Achalasia is an esophageal motility disorder characterized by dysphagia and noncardiac chest pain. Impairment of vagal function has been reported in achalasia. This study evaluated autonomic nervous system (ANS) dysfunctions in patients with achalasia to establish a correlation between an ANS dysfunction and the clinical symptoms of achalasia. Methods: Nineteen patients with achalasia (six males/13 females; mean age, 47.1±16.3 years) and 10 healthy controls (four males/six females; 34.8±10.7 years) were enrolled prospectively at Gangnam Severance Hospital between June 2013 and June 2014. All patients completed a questionnaire on ANS dysfunction symptoms and underwent a heart rate variability (HRV) test. Results: ANS dysfunction symptoms were present in 13 patients with achalasia (69%) and three controls (30%). The ANS dysfunction score was significantly higher in patients with achalasia than in the controls (p=0.035). There were no significant differences in the standard deviation of all normal R-R intervals, high frequency (HF), low frequency (LF), and LF/HF ratio in the HRV test. In subgroup analysis comparing female achalasia patients with controls, the cardiac activity was significantly higher in the female achalasia patients than in the controls (p=0.036). The cardiac activity (p=0.004) and endurance to stress (p=0.004) were significantly higher in the achalasia patients with ANS dysfunction symptoms than the achalasia patients without ANS dysfunction symptoms. Conclusions: ANS dysfunction symptoms are common in patients with achalasia. Female achalasia patients and those with ANS dysfunction symptoms showed increased cardiac activity. Hence, more attention should be paid to cardiac overload in achalasia patients who are female or have ANS dysfunction symptoms.

Artificial Intelligence Tools for Improving Manometric Diagnosis of Esophageal Dysmotility.

PURPOSE OF REVIEW: Artificial intelligence (AI) is a broad term that pertains to a computer's ability to mimic and sometimes surpass human intelligence in interpretation of large datasets. The adoption of AI in gastrointestinal motility has been slower compared to other areas such as polyp detection and interpretation of histopathology. RECENT FINDINGS: Within esophageal physiologic testing, AI can automate interpretation of image-based tests, especially high resolution manometry (HRM) and functional luminal imaging probe (FLIP) studies. Basic tasks such as identification of landmarks, determining adequacy of the HRM study and identification from achalasia from non-achalasia patterns are achieved with good accuracy. However, existing AI systems compare AI interpretation to expert analysis rather than to clinical outcome from management based on AI diagnosis. The use of AI methods is much less advanced within the field of ambulatory reflux monitoring, where challenges exist in assimilation of data from multiple impedance and pH channels. There remains potential for replication of the AI successes within esophageal physiologic testing to HRM of the anorectum, and to innovative and novel methods of evaluating gastric electrical activity and motor function. The use of AI has tremendous potential to improve detection of dysmotility within the esophagus using esophageal physiologic testing, as well as in other regions of the gastrointestinal tract. Eventually, integration of patient presentation, demographics and alternate test results to individual motility test interpretation will improve diagnostic precision and prognostication using AI tools.

Early-onset esophageal squamous cell carcinoma with achalasia: A case report.

RATIONALE: Individuals afflicted with achalasia of the cardia (AC) are more susceptible to the development of esophageal cancer (EC). However, the presence of esophageal retention obscured observation, making it difficult to detect EC early, which leads to misdiagnosis and poor prognosis in AC patients with EC. Besides, the persistence of high-risk factors may have contributed to the rapid progression of EC shortly after per-oral endoscopic myotomy (POEM). Therefore, it is imperative to alert clinicians to this extremely rare and instructive early-onset cancer. PATIENT CONCERNS: The patient was a 67-year-old male who developed dysphagia 3 years ago without obvious causes, with intermittent onset and aggravating trend, accompanied by weight loss. He usually eats high-temperature foods and pickled foods, and has a family history of esophageal squamous cell carcinoma. DIAGNOSIS AND INTERVENTIONS: The patient was initially diagnosed with AC 2 years ago and subsequently underwent POEM surgery. One year after surgery, he was found to have mid-upper EC during follow-up and underwent partial esophagectomy in time. OUTCOMES: The patient's symptoms have significantly improved with weight gain, and he is still adhering to regular follow-up and endoscopic examination. LESSONS: In rare cases, EC develops early in patients with achalasia after POEM surgery. To avoid missed diagnosis, a comprehensive examination to improve the accuracy to diagnose achalasia and identify possible early-onset cancer is very important in clinical practice. Especially for patients with AC who have a family history of EC or other high-risk factors may develop EC early after POEM surgery. Therefore, regular endoscopic follow-up after POEM surgery is essential.

Achalasia-associated megaoesophagus presenting with dyspnoea and cough.

We present an unusual case of achalasia presenting with dyspnoea and persistent cough. These symptoms persisted for months, leading to the patient undergoing a chest X-ray by her general practitioner which showed right basal consolidation and a density extending along the right mediastinum. CT scan was done which revealed megaoesophagus with a diameter of 7 cm causing tracheal compression, as well as right basal consolidation, consistent with aspiration. Further history revealed 6-month history of progressive swallowing difficulty, retrosternal chest pain and shortness of breath which worsened when eating solid foods. After thorough workup, a diagnosis of idiopathic achalasia (type II) was made. She was treated with laparoscopic Heller cardiomyotomy and Dor fundoplication with significant improvement at follow-up. Dyspnoea and respiratory symptoms are unusual presenting symptoms, suggesting a need to consider achalasia in a wider range of presentations. Successful treatment of achalasia depends on timely diagnosis and intervention prior to oesophageal failure.

Clinicopathologic evaluation of congenital idiopathic megaesophagus in a Gordon Setter puppy: a case report and development and application of peripherin immunohistochemistry for detection of ganglion cells.

We examined a case of congenital idiopathic megaesophagus (CIM) in a 5-wk-old female Gordon Setter puppy by means of contrast radiography, autopsy, histopathology, and immunohistochemistry. Clinical and radiologic findings included weight stagnation and marked generalized esophageal dilation with ventral displacement of the heart and lungs. These findings were confirmed at autopsy, and segments of the thoracic esophagus were sampled for histopathology. On histopathology, diffuse esophageal muscular atrophy, mucosal erosions, mononuclear inflammation, and a marked reduction in the number of myenteric plexus structures and number of ganglion cells were present (aganglionosis). The latter was determined immunohistochemically using an anti-peripherin antibody as the primary reagent, which provides a strong tool for the histologic confirmation of CIM. The histologic findings share some similarities to lesions associated with megaesophagus in Friesian foals, as well as esophageal achalasia and Hirschsprung disease in humans.

Modern insights into the pathophysiology and treatment of pseudoachalasia.

BACKGROUND: Secondary achalasia or pseudoachalasia is a clinical presentation undistinguishable from achalasia in terms of symptoms, manometric, and radiographic findings, but associated with different and identifiable underlying causes. METHODS: A literature review was conducted on the PubMed database restricting results to the English language. Key terms used were "achalasia-like" with 63 results, "secondary achalasia" with 69 results, and "pseudoachalasia" with 141 results. References of the retrieved papers were also manually reviewed. RESULTS: Etiology, diagnosis, and treatment were reviewed. CONCLUSIONS: Pseudoachalasia is a rare disease. Most available evidence regarding this condition is based on case reports or small retrospective series. There are different causes but all culminating in outflow obstruction. Clinical presentation and image and functional tests overlap with primary achalasia or are inaccurate, thus the identification of secondary achalasia can be delayed. Inadequate diagnosis leads to futile therapies and could worsen prognosis, especially in neoplastic disease. Routine screening is not justifiable; good clinical judgment still remains the best tool. Therapy should be aimed at etiology. Even though Heller's myotomy brings the best results in non-malignant cases, good clinical judgment still remains the best tool as well.

Fifteen-year symptomatic outcome of patients with nonactionable motor findings on high-resolution manometry.

BACKGROUND: High-resolution manometry (HRM) is performed for evaluation of esophageal symptoms, but patient outcome is unclear when no actionable motor disorder is identified. We evaluated long-term symptomatic outcome of patients with nonactionable HRM findings. METHODS: Patients who underwent (HRM) studies in 2006-2008 were tracked. Patients with achalasia spectrum disorders, foregut surgery before or after HRM, and incomplete symptom documentation were excluded. Symptom questionnaires assessing dominant symptom intensity (DSI, product of symptom severity and frequency recorded on 5-point Likert scales) and global symptom severity (GSS, from 10 cm visual analog scale) were repeated. Change in symptom burden was compared against HRM motor findings using Chicago Classification 4.0 (CCv4.0), applied retroactively to 2006-2008 data. KEY RESULTS: Overall, 134 patients (median age 68 years, 64.5% female) could be contacted. The majority (73.1%) had normal motility; others had ineffective esophageal motility (8.2%), esophagogastric junction outflow obstruction (13.4%), hypercontractile esophagus (3.0%), or absent contractility (2.2%), none managed invasively. Over 15 years of follow-up, DSI decreased from 8.0 (4.0-16.0) to 1.0 (0.0-6.0) (p < 0.001) and GSS improved from 5.5 (3.3-7.7) to 2.0 (0.0-4.0) (p < 0.001); improvement was consistent across CCv4.0 diagnoses and subgroups. The majority (82.8%) reported improvement over time, and antisecretory medication was the most effective intervention (83.0% improvement). There was no difference in medication efficacy (p = 0.75) or improvement in symptoms (p = 0.20) based on CCv4 diagnosis. CONCLUSIONS AND INFERENCES: Esophageal symptoms improve with conservative symptomatic management over long-term follow-up when no conclusive obstructive motor disorders or achalasia spectrum disorders are found on HRM.

Secondary peristalsis and esophagogastric junction distensibility in symptomatic post-fundoplication patients.

BACKGROUND: The impact of esophageal dysmotility among patients with post-fundoplication esophageal symptoms is not fully understood. This study aimed to investigate secondary peristalsis and esophagogastric junction (EGJ) opening biomechanics using functional lumen imaging probe (FLIP) panometry in symptomatic post-fundoplication patients. METHODS: Eighty-seven adult patients post-fundoplication who completed FLIP for symptomatic esophageal evaluation were included. Secondary peristaltic contractile response (CR) patterns and EGJ opening metrics (EGJ distensibility index (EGJ-DI) and maximum EGJ diameter) were evaluated on FLIP panometry and analyzed against high-resolution manometry (HRM), patient-reported outcomes, and fundoplication condition seen on esophagram and/or endoscopy. KEY RESULTS: FLIP CR patterns included 14 (16%) normal CR, 30 (34%) borderline CR, 28 (32%) impaired/disordered CR, 13 (15%) absent CR, and 2 (2%) spastic reactive CR. Compared with normal and borderline CRs (i.e., CR patterns with distinct, antegrade peristalsis), patients with impaired/disordered and absent CRs demonstrated significantly greater time since fundoplication (2.4 (0.6-6.8) vs. 8.9 (2.6-14.5) years; p = 0.002), greater esophageal body width on esophagram (n = 50; 2.3 (2.0-2.8) vs. 2.9 (2.4-3.6) cm; p = 0.013), and lower EGJ-DI (4.3 (2.7-5.4) vs. 2.6 (1.7-3.7) mm2/mmHg; p = 0.001). Intact fundoplications had significantly higher rates of normal CRs compared to anatomically abnormal (i.e., tight, disrupted, slipped, herniated) fundoplications (9 (28%) vs. 5 (9%); p = 0.032), but there were no differences in EGJ-DI or EGJ maximum diameter. CONCLUSIONS & INFERENCES: Symptomatic post-fundoplication patients were characterized by frequent abnormal secondary peristalsis after fundoplication, potentially worsening with time after fundoplication or related to EGJ outflow resistance.

[A Case of Type II Achalasia Occurring in a Nonagenarian Diagnosed with Acute Food Impaction].

Achalasia is an esophageal motility disorder characterized by loss of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter. Patients with achalasia often complain of persistent symptoms for several years before diagnosis. On the other hand, achalasia diagnosed as a sudden esophageal food impaction is uncommon, and no report has been issued on the diagnosis and successful treatment of achalasia in a 95-year-old patient. We report a case of achalasia diagnosed by high-resolution esophageal manometry and timed barium esophagography after food material removal by endoscopy in a 95-year-old woman who visited the hospital due to sudden esophageal food impaction and was successfully treated by endoscopic balloon dilatation.

Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children

Motor neuron diseases are a rare group of neurodegenerative disorders with considerable phenotypic heterogeneity and a multitude of etiologies in the pediatric population. In this study, we report 2 unrelated adolescents (a boy and a girl) who presented with 4-6 years of progressive difficulty in walking, thinning of limbs, and gradually progressive darkening of the skin. Examination revealed generalized hyperpigmentation of skin and features suggestive of motor neuron involvement such as tongue atrophy, wasting of distal extremities, and brisk deep tendon reflexes. On detailed exploration for systemic involvement, history of dysphagia, inability to produce tears, and Addisonian crises were evident. An etiologic diagnosis of Allgrove syndrome, which is characterized by a triad of achalasia, alacrimia, and adrenal insufficiency was considered. Next-generation sequencing revealed pathogenic variants in the AAAS gene, confirming the diagnosis. Steroid replacement therapy was initiated along with relevant multidisciplinary referrals. The disease stabilized in the boy and a significant improvement was noted in the girl. These cases highlight the value of non-neurologic cues in navigating the etiologic complexities of motor neuron diseases in children and adolescents. It is imperative for neurologists to develop awareness of the diverse neurologic manifestations associated with Allgrove syndrome because they are often the first to be approached. A multidisciplinary team of experts including neurologists, endocrinologists, gastroenterologists, ophthalmologists, and dermatologists is essential for planning comprehensive care for these patients.

Incidence, prevalence and clinical management of achalasia since the introduction of high-resolution manometry in Western Australia.

BACKGROUND: Epidemiological studies in achalasia and its clinical management in Australia are limited. AIMS: To determine the prevalence and trends in incidence rates and describe the types of treatment stratified by subtypes of achalasia. METHODS: A retrospective observational study was conducted at a single site that offers a state-wide high-resolution manometry (HRM) service in Western Australia (WA). Patients (aged ≥ 18 years) newly diagnosed with achalasia based on HRM findings between 2012 and 2021 were extracted from the HRM database. The crude incidence rate and age-standardised incidence rate (ASIR) along with the 2021-point prevalence were calculated. Trends were assessed by the Kendall τb test. The patients' initial and subsequent treatment modalities were described. RESULTS: A total of 296 new cases were identified, and the median age at diagnosis was 56 years. The patient's median age, sex and year of the first treatment did not vary significantly with the subtypes. The lowest and highest ASIR (cases/100 000 person-years) were 0.8 in 2012 and 2.1 in 2021, respectively. Only type 2 achalasia showed a significant increasing trend (P = 0.009). The 2021-point prevalence was 16.9 cases/100 000 people and increased with age. Pneumatic balloon dilatation (PBD) was the most common treatment for types 1 and 2, while laparoscopic Heller myotomy was most common for type 3. Peroral endoscopic myotomy (POEM) has become common in the past 5 years. CONCLUSION: The ASIR of type 2 achalasia significantly increased in WA. PBD was most commonly performed, although peroral endoscopic myotomy has recently increased as a preferred treatment option.

Long-term outcomes of laparoscopic Heller's myotomy with angle of His accentuation in patients of achalasia cardia.

BACKGROUND: Laparoscopic Heller's myotomy (LHM) is an established treatment for achalasia cardia. Anti-reflux procedures (ARP) are recommended with LHM to reduce the post-operative reflux though the optimal anti-reflux procedure is still debatable. This study reports on the long-term outcomes of LHM with Angle-of-His accentuation (AOH) in patients of achalasia cardia. METHODS: One hundred thirty-six patients of achalasia cardia undergoing LHM with AOH between January 2010 to October 2021 with a minimum follow-up of one year were evaluated for symptomatic outcomes using Eckardt score (ES), DeMeester heartburn (DMH) score and achalasia disease specific quality of life (A-DsQoL) questionnaire. Upper gastrointestinal endoscopy, high resolution manometry (HRM) and timed barium esophagogram (TBE) were performed when feasible and rates of esophagitis and improvement in HRM and TBE parameters evaluated. Time dependent rates of success were calculated with respect to improvement in ES and dysphagia-, regurgitation- and heartburn-free survival using Kaplan-Meier analysis. RESULTS: At a median follow-up of 65.5 months, the overall success (ES ≤ 3) was 94.1%. There was statistically significant improvement in ES, heartburn score and A-DsQoL score (p < 0.00001, p = 0.002 and p < 0.00001). Significant heartburn (score ≥ 2) was seen in 12.5% subjects with 9.5% patients reporting frequent PPI use (> 3 days per week). LA-B and above esophagitis was seen in 12.7%. HRM and TBE parameters also showed a significant improvement as compared to pre-operative values (IRP: p < 0.0001, column height: p < 0.0001, column width: p = 0.0002). Kaplan-Meier analysis showed dysphagia, regurgitation, and heartburn free survival of 75%, 96.2% and 72.3% respectively at 10 years. CONCLUSIONS: LHM with AOH gives a lasting relief of symptoms in patients of achalasia cardia with heartburn rates similar to that reported in studies using Dor's or Toupet's fundoplication with LHM. Hence, LHM with AOH may be a preferred choice in patients of achalasia cardia given the simplicity of the procedure.

Optimizing the Management Algorithm for Esophageal Dysphagia After Index Endoscopy: Cost-Effectiveness and Cost-Minimization Analysis.

INTRODUCTION: Guidelines advise esophageal motility testing for dysphagia when structural disorders are ruled out, but cost concerns impede adoption. We evaluated cost-effective positioning of esophageal motility testing in the algorithm to evaluate esophageal dysphagia. METHODS: We developed a decision analytic model comparing 3 strategies: (i) esophageal manometry, (ii) screening impedance planimetry followed by esophageal manometry if needed, or (iii) nonalgorithmic usual care. Diagnostic test accuracy was adapted to expected rates of esophageal motility disorders in general gastroenterology populations. We modeled routine testing for all patients with nonstructural/mechanical dysphagia compared with selective testing with strong suspicion for achalasia. Cost outcomes were defined on national commercial and Medicare datasets stratified on age and sex. Health outcomes were modeled on populations with achalasia. The time horizon was 1 year. RESULTS: Motility testing was preferred over nonalgorithmic usual care due to cost savings rather than health gains. To commercial insurers, routine esophageal manometry for nonstructural/mechanical dysphagia would be cost-saving below a reimbursed cost of $2,415. Screening impedance planimetry would be cost saving below a reimbursed cost of $1,130. The limit for reimbursed costs would be lower for patients older than 65 years to achieve cost savings mainly due to insurance. Sex did not significantly influence cost-effectiveness. Patients and insurers preferred routine screening impedance planimetry before manometry when the index of suspicion for achalasia was below 6%. DISCUSSION: Aligning with practice guidelines, routine esophageal motility testing seems cost saving to patients and insurers compared with nonalgorithmic usual care to evaluate nonstructural/mechanical dysphagia. Choice of testing should be guided by index of suspicion.