[Achalasia cardiae causing megaesophagus: "From the beginnings to the resolution"]. / Megaoesophagust okozó achalasia cardiae: "a kezdetektol a megoldásig".

Achalasia cardiae miatt az elso oesophago-cardia myotomiát több mint száz évvel ezelott Ernst Heller német sebész végezte. Az achalasiás betegek a mai napig ettol a beavatkozástól várják panaszaik megszunését. Az achalasia napjainkban is chronikus, progresszív betegség, aminek oki kezelését nem ismerjük, a gyógyítására, a panaszok enyhítésére gyógyszeres (calcium csatorna blokkolók stb.), endoscopos (botulinum toxin inj., ballonos tágítás, per oralis endoscopos myotomiát [POEM]) és sebészi (laparoscopos, thoracoscopos myotomia) kezeléseket váltakozó sikerrel alkalmazunk.A betegség progresszivitása miatt a betegek 5%-ánál a nyelésképtelenségig fokozódó dysphagia, megaoesophagus alakul ki, megoldására mutéti beavatkozás válik szükségessé. A muködésképtelen nyelocso eltávolítása és pótlása kiterjedt, nem elhanyagolható morbiditással és mortalitással járó beavatkozás. Közleményünkben egy 45 éves nobeteg kórtörténetét, az általunk alkalmazott mutéti beavatkozást ismertetjük. A beteg a mutét óta panaszmentes.

Fertility and sexual activity in patients with Triple A syndrome.

Objective: Triple A syndrome, caused by autosomal recessively inherited mutations in the AAAS gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have been reported to have offspring. Our aim was to assess the causes of infertility in male patients with this multisystemic syndrome, and to present a female patient that spontaneously conceived a child. Design: Cross-sectional study. Methods: Six males aged 19-48 years were included. Gonadotropins, testosterone, DHEAS, androstenedione, inhibin B, anti-Mullerian hormone measurements and testicular ultrasound were performed. Results: All six male patients had impaired general health and neurological symptoms including erectile and ejaculatory dysfunction. None of them had an offspring. The only demonstrated cause of infertility in our male patients was erectile and ejaculatory dysfunction which precludes sexual intercourse. Our patients had normal libido but were sexually abstinent. Except for low adrenal androgen levels, the concentrations of all measured hormones as well as testicular ultrasound were normal which may indicate the possibility of spermatogenesis in male patients with triple A syndrome. Little is known about fertility in female patients, but based on our observations spontaneous pregnancies seem to be possible. Conclusion: Our results contribute to still scarce knowledge on fertility in patients with Triple A syndrome and as well represents a foundation for further research on causes of infertility and possible treatment options.

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).

Retrograde tubing as a rescue treatment for megaoesophagus: a case report.

Familial dysautonomia (FD) is a genetic disease of the autonomous and sensory nervous systems. Severe gastro-oesophageal reflux is common and one of the major complications. Some patients with FD develop megaoesophagus. Oesophageal malfunction, accompanied by oesophageal food and secretion retention, results in recurrent aspiration and other severe respiratory complications. Through a traditional case report, we wish to show how reverse tubing of the oesophagus can lead to significant symptomatic improvement in these patients. Moreover, this technique can serve as an alternative treatment for other oesophageal motility disorders.

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.

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.

Achalasia is Strongly Associated With Eosinophilic Esophagitis and Other Allergic Disorders.

BACKGROUND & AIMS: Achalasia has been assumed to be an autoimmune disease targeting esophageal myenteric neurons. Recently, we proposed an alternative hypothesis that achalasia sometimes might be allergy-driven, caused by a form of eosinophilic esophagitis (EoE) in which activated eosinophils and/or mast cells infiltrating esophageal muscle release products that disrupt motility and damage myenteric neurons. To seek epidemiologic support for this hypothesis, we identified patients with achalasia in the Utah Population Database, and explored their frequency of having EoE and other allergic disorders. METHODS: We used International Classification of Diseases codes to identify patients with achalasia and allergic disorders including EoE, asthma, atopic dermatitis, contact dermatitis, allergic rhinitis, allergic conjunctivitis, hives/urticaria, and anaphylaxis. We calculated relative risk (RR) for each allergic disorder by comparing the number observed in patients with achalasia with the expected number in individuals matched for birthyear and sex, and we performed subanalyses for patients age ≤40 versus age >40 years. RESULTS: Among 844 patients with achalasia identified (55% female; median age at diagnosis, 58 years), 402 (47.6%) had ≥1 allergic disorder. Fifty-five patients with achalasia (6.5%) had EoE (1.67 EoE cases expected), for a RR of 32.9 (95% confidence interval, 24.8-42.8; P < .001). In 208 patients with achalasia age ≤40 years, the RR for EoE was 69.6 (95% confidence interval, 46.6-100.0; P < .001). RR also was increased significantly for all other allergic disorders evaluated (all greater than 3-fold higher than population rates). CONCLUSIONS: Achalasia is strongly associated with EoE and other allergic disorders. These data support the hypothesis that achalasia sometimes might have an allergic etiology.

Characteristics of Esophageal Motility and Associated Symptom Profiles in Patients with Esophageal Diverticulum: A Study Based on High-Resolution Impedance Manometry.

BACKGROUND: Esophageal diverticulum (ED) is an uncommon structural disorder with heterogenous manifestations and elusive pathophysiology. Our aim was to investigate esophageal motility and associated symptom profiles in patients with ED based on high-resolution impedance manometry (HRIM). METHODS: Consecutive patients with ED referred to our motility laboratory between 2015 to 2022 were identified in our electronic database. All patients were evaluated based on an upper endoscopy, HRIM, and standardized symptom questionnaires. Patients with ED were further stratified into upper, middle, and lower (epiphrenic) cases. Esophageal motility was evaluated with HRIM and the updated Chicago Classification v4.0. RESULTS: Twenty-four patients with ED (9 upper, 4 middle, and 11 epiphrenic) were analyzed. Patients with ED were generally older (mean: 65 ± 13.3 years) and predominantly women (58.3%). Most ED cases were unilaterally located (95.8%) and left-side predominant (62.5%). Mean symptom duration was 20 months (range: 1-120) and the most common symptoms were dysphagia (70.8%) and regurgitation (37.5%). Erosive esophagitis was noted in 16 patients (69.6%), while barium stasis was noted in 5 patients (20.8%). Fourteen patients (58.3%) were diagnosed with esophageal motility disorders using HRIM, with achalasia being the most common diagnosis (n = 5, 20.8%). Patients with epiphrenic diverticulum had significantly higher symptom scores and achalasia prevalence. CONCLUSION: Patients with ED tended to be older and was associated with a high prevalence of EMD. A multi-disciplinary evaluation, including complete anatomical and motility surveys, may help clarify the underlying pathophysiology and tailor further treatment strategies.

Lipoid Pneumonia Caused by Esophageal Achalasia.

A 59-year-old man presented with esophageal achalasia complicated by lipoid pneumonia. Dysphagia and diffuse ground-glass shadows on computed tomography led to the diagnosis of esophageal achalasia. An analysis of bronchoalveolar lavage (BAL) revealed yellow BAL fluid, with two distinct layers. Oil droplets were observed in the upper layer. Macrophages that phagocytosed lipids were also observed. He was diagnosed with lipoid pneumonia secondary to esophageal achalasia. His lipoid pneumonia improved after peroral endoscopic myotomy because of the reduction in aspiration risk.

Defining "true acid reflux" after peroral endoscopic myotomy for achalasia: a prospective cohort study.

BACKGROUND AND AIMS: The symptoms of reflux in achalasia patients undergoing peroral endoscopic myotomy (POEM) are believed to result from gastroesophageal reflux, and the current treatment primarily focuses on acid suppression. Nevertheless, other factors such as nonreflux acidification caused by fermentation or stasis might play a role. This study aimed to identify patients with "true acid reflux" who actually require acid suppression and fundoplication. METHODS: In this prospective large cohort study, the primary objective was to assess the incidence and risk factors for true acid reflux in achalasia patients undergoing POEM. Acid reflux with normal and delayed clearance defined true acid reflux, whereas other patterns were labeled as nonreflux acidification patterns on manual analysis of pH tracings. These findings were corroborated with a symptom questionnaire, esophagogastroscopy, esophageal manometry, and timed barium esophagogram at 3 months after the POEM procedure. RESULTS: Fifty-four achalasia patients aged 18 to 80 years (mean age, 41.1 ± 12.8 years; 59.3% men; 90.7% with type II achalasia) underwent POEM, which resulted in a significant mean Eckardt score improvement (6.7 to 1.6, P < .05). True acid reflux was noted in 29.6% of patients as compared with 64.8% on automated analysis. Acid fermentation was the predominant acidification pattern seen in 42.7% of patients. On multivariable logistic regression analysis, increasing age (odds ratio, 1.12; 95% confidence interval, 1.02-1.27; P = .04) and preprocedural integrated relaxation pressure (IRP; odds ratio, 1.13; 95% confidence interval, 1.04-1.30; P = .02) were significantly associated with true acid reflux in patients after undergoing POEM. CONCLUSIONS: A manual review of pH tracings helps to identify true acid reflux in patients with achalasia after undergoing POEM. Preprocedural IRP can be a predictive factor in determining patients at risk for this outcome. (Clinical trial registration number: NCT04951739.).

Conventional versus oblique fiber-sparing endoscopic myotomy for achalasia cardia: a randomized controlled trial (with videos).

BACKGROUND AND AIMS: GERD is common after peroral endoscopic myotomy (POEM). Selective sparing of oblique fibers may reduce the incidence of reflux esophagitis after POEM. In this study, we compared the incidence of GERD between conventional myotomy (CM) versus oblique fiber-sparing (OFS) myotomy in patients with achalasia. METHODS: Eligible patients with type I and II achalasia who underwent POEM from January 2020 to October 2020 were randomized into 2 groups (CM and OFS myotomy). Exclusion criteria were type III achalasia, sigmoid esophagus, and history of Heller's myotomy. The primary study outcome was incidence of reflux esophagitis (at least grade B) in the 2 groups. Secondary outcomes were reflux symptoms, esophageal acid exposure, clinical success, and adverse events. RESULTS: One hundred fifteen patients were randomized into CM (n = 58) and OFS myotomy (n = 57) groups. POEM was technically successful in all patients. Overall, reflux esophagitis was found in 56 patients (48.7%). The incidence of at least grade B esophagitis was similar in both groups (CM vs OFS myotomy: 25.9% vs 31.6%, P = .541). The mean number of reflux episodes (48.2 ± 36.6 vs 48.9 ± 40.3, P = .933), increased esophageal acid exposure >6% (45.5% vs 31.7%, P = .266), and high DeMeester scores (38.6% vs 41.5%, P = .827) were similar in both groups. There was no difference in the rate of symptomatic reflux (GERD questionnaire score >7) or use of proton pump inhibitors at 1 year. CONCLUSIONS: Sparing of sling fibers has no significant impact on the incidence of significant reflux esophagitis after POEM. Novel strategies need to be explored to prevent reflux after POEM. (Clinical trial registration number: NCT04229342.).

Laparoscopic Heller myotomy with Toupet fundoplication: revisiting GERD in treated achalasia.

INTRODUCTION: With the advent of the laparoscopic era in the 1990s, laparoscopic Heller myotomy replaced pneumatic dilation as the first-line treatment for achalasia. An advantage of this approach was the addition of a fundoplication to reduce gastroesophageal reflux disease (GERD). More recently, Peroral Endoscopic Myotomy has competed for first-line therapy, but the postoperative GERD may be a weakness. This study leverages our experience to characterize GERD following LHM with Toupet fundoplication (LHM+T ) so that other treatments can be appropriately compared. METHODS: A single-institution retrospective review of adult patients with achalasia who underwent LHM+T from January 2012 to April 2022 was performed. We obtained routine 6-month postoperative pH studies and patient symptom questionnaires. Differences in questionnaires and reflux symptoms in relation to pH study were explored via Kruskal-Wallis test or chi-square tests. RESULTS: Of 170 patients who underwent LHM+T , 51 (30%) had postoperative pH testing and clinical symptoms evaluation. Eleven (22%) had an abnormal pH study; however, upon manual review, 5 of these (45.5%) demonstrated low-frequency, long-duration reflux events, suggesting poor esophageal clearance of gastric refluxate and 6/11 (54.5%) had typical reflux episodes. Of the cohort, 7 (15.6%) patients reported GERD symptoms. The median [IQR] severity was 1/10 [0, 3] and median [IQR] frequency was 0.5/4 [0, 1]. Patients with abnormal pH reported more GERD symptoms than patients with a normal pH study (3/6, 50% vs 5/39, 12.8%, p = 0.033). Those with a poor esophageal clearance pattern (n = 5) reported no concurrent GERD symptoms. CONCLUSION: The incidence of GERD burden after LHM+T is relatively low; however, the nuances relevant to accurate diagnosis in treated achalasia patients must be considered. Symptom correlation to abnormal pH study is unreliable making objective postoperative testing important. Furthermore, manual review of abnormal pH studies is necessary to distinguish GERD from poor esophageal clearance.

Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report.

RATIONALE: Myotonic dystrophy type 1 (DM-1) is a progressive multisystem genetic disorder that causes myotonia and both distal limb and facial/neck muscle weakness by expanding the CTG repeats of the DMPK gene in chromosome 19q13.3. General anesthesia is indicated in DM-1 patients owing to their sensitivity to anesthetic drugs such as opioids, hypnotics, and neuromuscular blocking agents. PATIENT CONCERNS: A 48-year-old male patient underwent a laparoscopic cholecystectomy for gallstones under general anesthesia. He experienced sudden cardiac arrest and respiratory failure the day after surgery. After a thorough review of past medical history, we recognized that 15 years prior, he had been diagnosed with classic type DM-1, but the diagnosis was not self-reported before general anesthesia. Symptoms of severe dysphagia developed subsequently. In a videofluoroscopic swallowing study (VFSS), we observed abrupt aggravation of myotonic dysphagia after general anesthesia. VFSS revealed cricopharyngeal opening dysfunction, with a remaining large residue in the pyriform sinus, resulting in a severe cricopharyngeal achalasia pattern. DIAGNOSIS: Acute cricopharyngeal achalasia after general anesthesia. INTERVENTION AND OUTCOME: The patient underwent a dysphagia rehabilitation program that included cricopharyngeal opening exercises and functional electrical stimulation. However, no significant improvement was observed in the cricopharyngeal achalasia in a 3-month follow-up VFSS. LESSONS: Low body temperature and anesthetic medications such as opioids and hypnotic agents can induce myotonia in the cricopharyngeal muscle.

Case of Concomitant Endoscopic Treatment of Achalasia with Superficial Esophageal Cancer.

Achalasia, a rare motility disorder of the esophagus, is generally accepted as a premalignant disorder. This paper presents the case of a 72-year-old male with achalasia and synchronous superficial esophageal cancer who experienced dysphagia symptoms for five years. As achalasia is associated with an increased risk of esophageal cancer, both can be treated simultaneously if detected at the time of diagnosis. Achalasia and synchronous esophageal cancer are rarely detected and treated endoscopically. This paper reports a case of concurrent successful treatment.

Transabdominal Management of Epiphrenic Diverticula in the Setting of Achalasia: A Single-center Review.

BACKGROUND: The perioperative and functional outcomes of patients with epiphrenic diverticula (ED) on a background of achalasia managed via a minimally invasive transabdominal approach are under-reported. We describe our center's experience over 10 years of treating such patients. METHODS: A single-center, retrospective chart of a prospectively maintained hospital database was performed. All patients with a diagnosis of ED and manometrically proven achalasia were identified. Demographic, clinical, and surgical data were extracted from the institution's medical records. Patients were stratified by whether they underwent myotomy only or myotomy plus diverticulectomy and compared in a univariate manner. RESULTS: There were 18 patients who met the inclusion criteria. The median age of the cohort was 67.1 years (range 53.1 to 77.8), the maximal size of the diverticula was 3.5 cm (range 2.0 to 7.0), and the distance of the proximal lip of the diverticulum to the incisors was 33.5 cm (range 28.0 to 38.0). In terms of surgical intervention, 14 patients (77.8%) underwent myotomy plus diverticulectomy, and 4 (22.2%) underwent myotomy alone. The duration of surgery was significantly longer in the former (177.5 vs. 75.0 min, P =0.031). In total, 9/18 (50.0%) of patients were discharged on the day of surgery. There was a trend to more major postoperative complications following diverticulectomy plus myotomy, with 2/13 (15.4%) patients suffering staple line leaks. Excellent long-term functional outcomes were achieved, with 81.3% of patients having sustained resolution of their symptoms. CONCLUSIONS: Laparoscopic transabdominal approach for the treatment of ED offers an acceptable risk profile and favorable functional outcomes in patients with underlying achalasia.