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.

PERORAL ENDOSCOPIC MYOTOMY FOR ACHALASIA: SAFETY PROFILE, COMPLICATIONS AND RESULTS OF 94 PATIENTS.

BACKGROUND: Achalasia is an esophageal motility disorder, with clinical presentation of dysphagia and regurgitation. This is a chronic condition with no cure. Current treatment options aim to reduce lower esophageal sphincter tone by pharmacological, endoscopic or surgical means, with the aim of improving patients' symptoms. Peroral endoscopic myotomy (POEM) is an alternative endoscopic surgery to Heller cardiomyotomy, in which the procedure is performed orally, by endoscopy, offering efficacy comparable to surgical myotomy, with relative ease and minimal invasion, without external incisions. AIMS: To study the safety of POEM by analyzing its results, adverse events and perioperative complications and the main ways to overcome them, in addition to evaluating the effectiveness of the procedure and the short-term postoperative quality of life. METHODS: A qualitative and quantitative, observational and cross-sectional study that analyzed patients who underwent the POEM in a reference center, from December 2016 to December 2022, maintaining the technical standard of pre-, peri- and postoperative protocol. RESULTS: A total of 94 patients were included in the study, and only three had postoperative complications. The average early postoperative Eckardt score was 0.93 and the late 1.40, with a mean improvement of 7.1 in early results and 6.63 in late results (p<0.05). CONCLUSIONS: POEM can be reproduced with an excellent safety profile, significant relief of symptoms and improvement in esophageal emptying, and in quality of life.

Successful Design and Implementation of a POEM Program for Achalasia in an Integrated Healthcare System.

BACKGROUND: Per Oral Endoscopic Myotomy (POEM) is a minimally invasive treatment for achalasia with results comparable to laparoscopic Heller myotomy (LHM). Studies have described the development of proficiency for endoscopists learning to perform POEM, and societies have defined educational and technical objectives for advanced endoscopy fellows in training. However, there is limited guidance on the organizational strategy and educational plan necessary to develop an achalasia service with POEM expertise. AIMS: We aim to outline the steps for design and implementation of a successful POEM program. METHODS: We reported our experience developing a multi-disciplinary clinical program for POEM and the steps taken to achieve procedural proficiency. We also reported our technical success (successful tunneling into the gastric cardia and myotomy of LES muscle fibers) and clinical success (post-procedure Eckardt score ≤ 3) at 3-6 months and 12 months post-procedure. Adverse events were classified per the ASGE lexicon for endoscopic adverse events. RESULTS: After creating a multi-disciplinary clinical program for achalasia and completing procedural proficiency for POEM, our technical success rate was 100% and clinical success rate 90% for the first 41 patients. One adverse event (2.4%) occurred, moderate in severity per the American Society of Gastrointestinal Endoscopy (ASGE) lexicon for adverse endoscopic events. CONCLUSION: In this study, we outlined the steps involved to establish a POEM service in a large integrated healthcare system. Prior competency in interventional endoscopy, procedural training models, POEM observation and education, proctorship, and interdisciplinary patient care are recommended.

IMPAIRED QUALITY OF LIFE IN CHAGAS ACALASIA PATIENTS AND ASSOCIATED CLINICAL FACTORS.

BACKGROUND: No study has focused on Health-Related Quality of Life (HRQoL) for Chagas Achalasia patients. Objective: To compare HRQoL between Chagas Achalasia patients and the general population; and to correlate HRQoL with clinical factors that can affect it. METHODS: Sixty Chagas Achalasia patients and 50 controls were evaluated. All patients underwent esophageal manometry for the diagnosis of achalasia and esophagogram to determine the grade of megaesophagus. Three questionnaires were used: 1) clinical: the following data were collected: demographic, medical history, body mass index, occurrence of six esophageal symptoms (Esophageal Symptom Score: number of symptoms reported by patients), duration of dysphagia; 2) socio-economic-cultural status evaluation: patients and controls answered seven questions about their socio-economic-cultural conditions; 3) HRQoL: the validated Brazilian-Portuguese version of the Short-form Health Survey (SF-36) questionnaire (license QM020039) was used. It measures health in eight domains: 3a) four physical: physical functioning, role limitations relating to physical health, bodily pain, and general health perception; 3b) four mental: vitality, social functioning, role limitations relating to emotional health, and mental health. These domains can be summarized into Physical and Mental Summary scores. We analyzed correlations between SF-36 Physical/Mental Summary Component scores and the following clinical factors: Esophageal Symptom Score, duration of dysphagia, body mass index, grades of megaesophagus (defined by the esophagogram) and presence/absence of megacolon (defined by opaque enema). RESULTS: Patients and controls had similar age, gender, medical history, and socio-economic-cultural lifestyles (P>0.05). All patients had dysphagia and megaesophagus. SF-36 scores were significantly lower in Chagas Achalasia patients than controls for all eight domains (physicals: P<0.002; mentals: P<0.0027). The Physical and Mental Summary Component scores were also lower in Chagas Achalasia patients than controls (P<0.0062). For patients, the Physical Summary score was negatively correlated to Esophageal Symptom Score (P=0.0011) and positively correlated to body mass index (P=0.02). No other correlations were found. CONCLUSION: Chagas Achalasia patients have an impaired HRQoL in all physical and mental domains. Patients reporting more symptoms had worse physical domains. Patients with higher body mass index had better physical domains.

Gastrointestinal Uses of Botulinum Toxin.

Botulinum toxin (BT), one of the most powerful inhibitors that prevents the release of acetylcholine from nerve endings, represents an alternative therapeutic approach for "spastic" disorders of the gastrointestinal tract such as achalasia, gastroparesis, sphincter of Oddi dysfunction, chronic anal fissures, and pelvic floor dyssynergia.BT has proven to be safe and this allows it to be a valid alternative in patients at high risk of invasive procedures but long-term efficacy in many disorders has not been observed, primarily due to its relatively short duration of action. Administration of BT has a low rate of adverse reactions and complications. However, not all patients respond to BT therapy, and large randomized controlled trials are lacking for many conditions commonly treated with BT.The local injection of BT in some conditions becomes a useful tool to decide to switch to more invasive therapies. Since 1980, the toxin has rapidly transformed from lethal poison to a safe therapeutic agent, with a significant impact on the quality of life.

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

INTRODUCTION: Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by cardinal features of primary adrenal insufficiency (AI) due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrima. It is frequently associated with neurological manifestations such as autonomic dysfunction, cognitive dysfunction, cranial nerve, or motor involvement. Amyotrophy/motor neuron disease is a rare association. CASE PRESENTATION: We herein report a 19-year-old boy diagnosed with triple A syndrome (TAS), with the classic triad of ACTH-resistant adrenal insufficiency, achalasia, and alacrima. Additionally, he had distal spinal muscle amyotrophy. Alacrima was the earliest feature evident in early childhood, followed by achalasia at 12 years of age. He was diagnosed with AI at the age of 19 years, with involvement of the mineralocorticoid axis. Further evaluation showed a neurogenic pattern on electromyography, consistent with a diagnosis of motor neuron disease. A nerve conduction study revealed no significant neuropathy. Genetic analysis confirmed a pathogenic homozygous mutation in the AAAS gene c.43C>A, p.Gln15Lys. He improved with glucocorticoid and mineralocorticoid supplements for AI, and nifedipine for achalasia and artificial tears. He is planned for esophagomyotomy. CONCLUSION: In any young patient with AI not due to congenital adrenal hyperplasia, Allgrove syndrome should be ruled out. Though mineralocorticoid sparing pattern is classical, it can rarely be involved, as seen in the index case. Various components of the syndrome, as well as amyotrophy and other neurologic features, may present in a metachronous fashion. Hence, a high index of clinical suspicion can aid in early diagnosis and management.

Gastric peroral endoscopic myotomy for the treatment of refractory gastroparesis: a prospective single-center experience with mid-term follow-up (with video).

BACKGROUND AND AIMS: Gastroparesis (GP) is a multifactorial disease associated with a large burden on the health care systems. Pyloric-directed therapies including gastric peroral endoscopic myotomy (G-POEM) can be effective in improving patient quality of life and symptom severity. We report on the safety and efficacy of G-POEM and its impact on the quality of life of patients managed at a large referral center. METHODS: Consecutive patients with confirmed GP referred for G-POEM due to failure of medical therapy were included. All patients were assessed at baseline and then at 1, 3, 6, and 12 and 24 months after G-POEM using validated symptom and quality of life instruments, including the Gastroparesis Cardinal Symptom Index (GCSI), Patient Assessment of Gastrointestinal Disorders Symptom Severity Index (PAGI-SYM), and 36-Item Short Form Survey (SF-36). Patients were evaluated before and 6 months after the procedure with EGD, 4-hour scintigraphy, and pyloric EndoFLIP. Technical success was defined as the ability to perform full-thickness pyloromyotomy. Clinical response was defined as an improvement of ≥1 point on GCSI. RESULTS: Fifty-two patients (median age, 48 years; range, 25-80 years, 88% female) underwent G-POEM between February 2018 and September 2020 for the following phenotypes: vomiting-predominant (n=30), dyspepsia-predominant (n=16), and regurgitation-predominant (n=6) GP. The technical success rate was 100%. Adverse events were noted in 3 of 52 patients (5.77%), and were all managed successfully endoscopically. Clinical response was achieved in 68%, 58%, and 48% of patients at 1-month, 6-month, and 12-month follow-up (P < .001, P < .001, and P < .01, respectively). When classified by the cause of GP, the clinical response rates were diabetic GP 64% (11 of 17), postsurgical GP 67% (6 of 9), and idiopathic GP 72% (13 of 18). A statistically significant improvement in PAGI-SYM scores was observed at 1, 3, 6, 12, and 24 months, in addition to significant improvement in several domains of SF-36. Mean 4-hour gastric emptying was reduced 6 months after G-POEM (10.2%) compared with baseline (36.5%, P < .001). We report a significant reduction in the number of emergency department visits and days spent in the hospital up to 24 months after G-POEM. CONCLUSIONS: G-POEM appears to be a safe and feasible treatment alternative for refractory GP with significant short-term and mid-term improvements in overall symptoms, quality of life scores, and health care utilization.

Comparison of Objective Intermediate-Term Outcomes Between per-Oral Endoscopic Myotomy and Laparoscopic Heller Myotomy Show Equivalence.

INTRODUCTION: The surgical gold standard for esophageal motility disorders is laparoscopic Heller myotomy (LHM). Per-oral endoscopic myotomy (POEM) is a less invasive flexible endoscopic alternative. We compare their intermediate-term outcomes. METHODS: Data were collected on consecutive LHM and POEM patients treated for esophageal motility disorders from January 2015 to December 2019. All patients were invited for a comprehensive workup between 6 and 12 months post-myotomy including symptom evaluation, pH testing off medications, manometry, and esophagogastroduodenoscopy (EGD). Primary outcomes include swallowing function and development of postoperative gastroesophageal reflux disease (GERD). RESULTS: There were 100 patients (46 LHM and 54 POEM). Patient demographics and presenting symptoms were comparable. Follow-up data were obtained from 49% of patients. Average length of follow-up for all patients was 10 months. Mean Eckardt scores for LHM decreased from 6.6 to 2.4 (P < .05) and from 7.06 to 2.2 for POEM (P < .05). Mean integrated relaxation pressure decreased from 22.8 preoperatively to 11 postoperatively in LHM patients and from 24.6 to 11.5 in POEM patients. POEM patients had a lower incidence of objective postoperative GERD with lower average DeMeester scores (20 vs 29.4) and a higher percentage of patients with a normal DeMeester score (47% vs 31%) compared to LHM patients. However, postoperative GERD health related quality of life scores (11.7 vs 14.1), the percent of patients on proton pump inhibitors (PPIs) (40% vs 53%), and frequency of grade C/D esophagitis (4.3% vs 5.6%) were lower in LHM patients. CONCLUSIONS: Intermediate-term symptom resolution and esophageal physiology are improved equally with both procedures. The development of postoperative GERD is equivalent.

The not-so-rare absent RAIR: Internal anal sphincter achalasia in a review of 1072 children with constipation undergoing high-resolution anorectal manometry.

BACKGROUND: Our objective is to describe the prevalence of patients with internal anal sphincter achalasia (IASA) without Hirschsprung disease (HD) among children undergoing anorectal manometry (ARM) and their clinical characteristics. METHODS: We performed a retrospective review of high-resolution ARM studies performed at our institution and identified patients with an absent rectoanal inhibitory reflex (RAIR). Clinical presentation, medical history, treatment outcomes, and results of ARM and other diagnostic tests were collected. We compared data between IASA patients, HD patients, and a matched control group of patients with functional constipation (FC). KEY RESULTS: We reviewed 1,072 ARMs and identified 109 patients with an absent RAIR, of whom 28 were diagnosed with IASA. Compared to patients with FC, patients with IASA had an earlier onset of symptoms and were more likely to have abnormal contrast enema studies. Compared to patients with HD, patients with IASA were more likely to have had a normal timing of meconium passage, a later onset of symptoms, and were diagnosed at an older age. At the latest follow-up, the majority of patients diagnosed with IASA (54%) were only using oral laxatives. Over half of patients with IASA had been treated with anal sphincter botulinum toxin injection, and 55% reported a positive response. CONCLUSIONS AND INFERENCES: Patients diagnosed with IASA may represent a more severe patient population compared to patients with FC, but have a later onset of symptoms compared to patients with HD. They may require different treatments for their constipation and deserve further study.

Achalasia: what to do in the face of failures of Heller myotomy.

Achalasia is a primary motility disorder of the esophagus, and while there are several treatment options, there is no consensus regarding them. When therapeutic intervention for achalasia fails, a careful evaluation of the cause of the persistent or recurrent symptoms using upper endoscopy, esophageal manometry, and contrast radiologic studies is required to understand the cause of therapy failure and guide plans for subsequent treatment. Options for reintervention are the same as for primary intervention and include pneumatic dilation, botulinum toxin injection, peroral endoscopic myotomy, or redo esophageal myotomy. When reintervention fails or if the esophagus is not amenable to intervention and the disease is considered end-stage, esophagectomy is the last option to manage recurrent achalasia.

[Effect of electronic moxibustion on activity of parapharyngeal wall in patients with achalasia of cricopharyngeus muscle after stroke based on musculoskeletal ultrasound].

OBJECTIVE: To observe the clinical effect of electronic moxibustion on dysphagia in patients with achalasia of cricopharyngeus muscle after stroke. METHODS: Sixty patients with dysphagia of achalasia of cricopharyngeus muscle were randomly divided into an observation group and a control group, 30 cases in each group. One patient in the observation group and 2 cases in the control group dropped off. The patients in the control group were treated with routine medical treatment, acupuncture treatment and swallowing rehabilitation training; the patients in the observation group were additionally treated with electronic moxibustion at Lianquan (CV 23), Tiantu (CV 22), Tianding (LI 17) and Futu (LI 18), 30 min each treatment. Both groups were treated 5 times a week for 4 weeks. The musculoskeletal ultrasound (MSUS) was applied to test the activity of parapharyngeal wall and the dysphagia score of Ichiro Fujishima was compared before and after 4-week treatment. RESULTS: After treatment, the activity of the parapharyngeal wall and the dysphagia score of Ichiro Fujishima were increased in both groups (P<0.01, P<0.05). The changes of activity of parapharyngeal wall and dysphagia score of Ichiro Fujishima in the observation group were greater than the control group (P<0.05, P<0.01). CONCLUSION: Electronic moxibustion can improve the impaired swallowing function and reconstruct the normal swallowing process.

[Catheter balloon dilation combined with acupuncture for cricopharyngeal achalasia after brain stem infarction: a randomized controlled trial].

OBJECTIVE: To screen the optimal acupuncture regimen for cricopharyngeal achalasia (CPA) after brain stem infarction and compare the therapeutic effect between the combined therapy of catheter balloon dilation and acupuncture and the simple application of catheter balloon dilation. METHODS: The patients suffering from neuropathic dysphagia in CPA after brain stem infarction were selected as the subjects. After confirmed in the diagnosis with video fluoroscopic swallowing study (VFSS), they were randomized into 6 groups, 15 cases in each one, named group A (routine treatment), group B (catheter balloon dilation), group C1 (treated with acupuncture in local area), group C2 (treated with acupuncture based on zangfu differentiation), group C3 (treated with acupuncture at the local area and the acupoints based on zangfu differentiation) and group D (catheter balloon dilation combined with the optimal acupuncture). Two phases were included in the study. In the first phase of study, the therapeutic effect was compared among the three acupuncture groups, named C1, C2 and C3 group, so as to screen the optimal acupuncture regimen. In the group C1, the main acupoints included Fengchi (GB 20), Wangu (GB 12), Yifeng (TE 17) and three-tongue points (Extra). In the group C2, the main acupoints were Neiguan (PC 6), Tongli (HT 5), Zusanli (ST 36) and Sanyinjiao (SP 6) as well as the supplementary acupoints in accordance with the syndrome differentiation. In the group C1 and group C2, after deqi, the electroacupuncture was used, with continuous dense wave, 5 to 8 Hz in frequency. The needles were retained for 30 min. Acupuncture was given once a day, 5 treatments a week. Before treatment, in 6 weeks of treatment or after removal of gastric tube, the rehabilitation was evaluated. In the group C3, the acupoints, manipulation and treating course were same as the group C1 and group C2. In the 2nd phase of study, theresults of rehabilitation treatment were compared among the group A, group B and group D. The treatment was given once a day, 5 times a week. Before treatment, after gastric tube removal or in 6 weeks of treatment, the evaluation was conducted. The feeding-swallowing function grade and VFSS were adopted in the evaluation among the above 6 groups. RESULTS: ① In the VFSS comparison at 1st phase of study after treatment, the food transporting ability at oral dysphagia, the results in the group C3 and group C1 were better obviously than the group C2 (both P<0.05). For the improvement in aspiration, the result in the group C3 was better obviously than the group C2 (P<0.05). In comparison of the three acupuncture groups with the group A, the difference was not significant statisticallys in the extubation rate among the four groups (P>0.05). The severity of dysphagia in the group C3 was milder than the group C2 and group A (both P<0.05). ② In the VFSS comparison at the 2nd phase of study, for the food transporting ability, the results in the group D and the group B were obviously better than the group A (both P<0.05). Regarding the function at the pharyngeal dysphagia and aspiration, the results in the group D were better than the group B and group A, those in the group B were better than the group A (all P<0.05). The difference in the extubation rate among the group A, group B and group D after treatment was significant statistically (P<0.01), of which, the extubation rate in the group D was the highest and the rate in the group A was the lowest. The dysphagia degree in the group D was milder than the group B and group A and that in the group B was milder than the group A (all P<0.05). CONCLUSION: In the study of the different acupuncture methods, the acupuncture at the local acupoints and the acupoints selected based on zangfu differentiation is the optimal acupuncture regimen for cricopharyngeal achalasia after brain stem infarction. The catheter balloon dilation combined with acupuncture present the synergistc effect on cricopharyngeal achalasia after brain stem infarction, obviously relieve dysphagia and reduce aspiration.

Achalasia diagnosed despite normal integrated relaxation pressure responds favorably to therapy.

BACKGROUND: Achalasia diagnosis requires elevated integrated relaxation pressure (IRP; manometric marker of lower esophageal sphincter [LES] relaxation). Yet, some patients exhibit clinical features of achalasia despite normal IRP and have LES dysfunction demonstrable by other means. We hypothesized these patients to exhibit equivalent therapeutic response compared to standard achalasia patients. METHODS: Symptomatic achalasia-like cases, despite normal IRP, displayed evidence of impaired LES relaxation using rapid drink challenge (RDC), solid swallows during high-resolution manometry, and/or barium esophagogram; were treated with achalasia therapies and compared to standard achalasia patients with raised IRP. Outcomes included equivalence for short- and long-term symptom response and stasis on barium esophagogram. KEY RESULTS: Twenty-nine normal IRP achalasia cases (14 males, median age 50 year, median Eckardt 6, barium stasis 12 ± 7 cm) and 29 consecutive standard achalasia controls underwent therapy. Among cases, LES dysfunction was most often identified by RDC and/or barium esophagogram. Short-term symptomatic success was equivalent in cases vs controls (90% vs 93%; 95% CI for difference: -19% to 13%). Median short-term (1 vs 1; 95% CI for difference: 0-1) and long-term Eckardt scores (2 vs 1; 95% CI for difference: 0-2) were similar in cases and controls, respectively. Adequate clearance was observed in 67% of cases vs 81% of controls on post-therapy esophagogram. CONCLUSIONS AND INFERENCES: We described a subset of achalasia patients with normal IRP, but impaired LES relaxation identifiable only on additional provocative tests. These patients benefited from treatment, suggesting that such tests should be performed to increase the number of clinically relevant diagnoses.

Early Phase of Achalasia Manifested as an Esophageal Subepithelial Tumor / 대한소화기병학회잡지

The Chicago classification (CC) defines an esophagogastric junction outflow obstruction (EGJOO) as the presence of several instances of intact or weak peristalsis, elevated median integrated relaxation pressure above 15 mmHg, and a discrepancy from the criteria of achalasia. The revised CC addresses the potential etiology of EGJOO, including the early forms of achalasia, mechanical obstruction, esophageal wall stiffness, or manifestation of hiatal hernia. A 58-year-old woman visited the Presbyterian Medical Center with swallowing difficulty. The patient underwent a high resolution manometry (HRM) examination and was diagnosed with EGJOO. Chest CT was performed to exclude a mechanical obstruction as a cause, and CT revealed a subepithelial tumor (SET) at the upper part of the esophagogastric junction. Therefore, laparoscopic surgery was performed and eccentric muscular hypertrophy of the distal esophagus was observed. Longitudinal myotomy and Dor fundoplication were also performed. The histology findings of the surgical specimens were consistent with achalasia. This paper reports a case of early achalasia that was finally diagnosed by the histology findings, but was initially diagnosed as EGJOO using HRM and misdiagnosed as SET in the image study.

Management of Achalasia: Expert Consensus Statements / 대한소화기병학회잡지

Achalasia is a motility disorder of the esophagus characterized by absence of peristalsis and failure of relaxation of lower esophagus sphincter. The introduction of high resolution manometry (HRM) and per-oral endoscopic myotomy (POEM) has made a new chapter in diagnosis and treatment of achalasia. HRM allows classify according to the subtype of achalasia, and help predict prognosis and therapeutic response. POEM is a minimally invasive, effective option for treating achalasia. The management of achalasia required tailored application of various therapies such as botox injection, pneumatic balloon dilatation, POEM, or Heller's myotomy. In this review, we state the important aspects of diagnosis as well as management of achalasia.

Early Phase of Achalasia Manifested as an Esophageal Subepithelial Tumor / 대한소화기학회지

The Chicago classification (CC) defines an esophagogastric junction outflow obstruction (EGJOO) as the presence of several instances of intact or weak peristalsis, elevated median integrated relaxation pressure above 15 mmHg, and a discrepancy from the criteria of achalasia. The revised CC addresses the potential etiology of EGJOO, including the early forms of achalasia, mechanical obstruction, esophageal wall stiffness, or manifestation of hiatal hernia. A 58-year-old woman visited the Presbyterian Medical Center with swallowing difficulty. The patient underwent a high resolution manometry (HRM) examination and was diagnosed with EGJOO. Chest CT was performed to exclude a mechanical obstruction as a cause, and CT revealed a subepithelial tumor (SET) at the upper part of the esophagogastric junction. Therefore, laparoscopic surgery was performed and eccentric muscular hypertrophy of the distal esophagus was observed. Longitudinal myotomy and Dor fundoplication were also performed. The histology findings of the surgical specimens were consistent with achalasia. This paper reports a case of early achalasia that was finally diagnosed by the histology findings, but was initially diagnosed as EGJOO using HRM and misdiagnosed as SET in the image study.