Endoscopic botulinum toxin injection combined with balloon dilatation for treatment of cricopharyngeal achalasia in patient with brainstem stroke. / æ¶ˆåŒ–å† é•œå¼•å¯¼ä¸‹è‚‰æ¯’æ¯’ç´ æ³¨å°„è”åˆçƒå›Šæ‰©å¼ æ²»ç–—è„‘å¹²æ¢—æ­»åŽçŽ¯å’½è‚Œå¤±å¼›ç¼“çš„æ•ˆæžœ.

OBJECTIVES: At present, there are many reports about the treatment of cricopharyngeal achalasia by injecting botulinum toxin type A (BTX-A) into cricopharyngeal muscle guided by ultrasound, electromyography or CT in China, but there is no report about injecting BTX-A into cricopharyngeal muscle guided by endoscope. This study aims to evaluate the efficacy of endoscopic BTX-A injection combined with balloon dilatation in the treatment of cricopharyngeal achalasia after brainstem stroke, and to provide a better method for the treatment of dysphagia after brainstem stroke. METHODS: From June to December 2022, 30 patients with cricopharyngeal achalasia due to brainstem stroke were selected from the Department of Rehabilitation Medicine, the First Hospital of Changsha. They were randomly assigned into a control group and a combined group, 15 patients in each group. Patients in both groups were treated with routine rehabilitation therapy, while patients in the control group were treated with balloon dilatation, and patients in the combined group were treated with balloon dilatation and BTX-A injection. Before treatment and after 2 weeks of treatment, the patients were examined by video fluoroscopic swallowing study, Penetration-aspiration Scale (PAS), Dysphagia Outcome Severity Scale (DOSS), and Functional Oral Intake Scale (FOIS) were used to assess the swallowing function. RESULTS: In the combined group, 1 patient withdrew from the treatment because of personal reasons. Two weeks after treatment, the scores of DOSS, PAS, and FOIS in both groups were better than those before treatment (all P<0.01), and the combined group was better than the control group (all P<0.001). The effective rate was 85.7% in the combined group and 66.7% in the control group, with no significant difference between the 2 groups (P>0.05). CONCLUSIONS: BTX-A injection combined with balloon dilatation is more effective than balloon dilatation alone in improving swallowing function and is worthy of clinical application.

Per-oral endoscopic myotomy in patients with antithrombotic agents: A large-scale multicenter study in Japan.

BACKGROUND AND AIM: The perioperative management and clinical course of per-oral endoscopic myotomy for patients receiving antithrombotic therapy remains unknown. This study aimed to clarify the status of antithrombotic therapy in per-oral endoscopic myotomy and to determine its safety and efficacy. METHODS: Patients treated with per-oral endoscopic myotomy from 2010 to 2019 in seven high-volume centers in Japan were retrospectively investigated. The patients' characteristics and antithrombotic agent management were analyzed; clinical outcomes were compared with those without antithrombotic agents. RESULTS: Of 2752 patients who underwent per-oral endoscopic myotomy, 120 patients on antithrombotic therapy (mean age 71.0 years, American Society of Anesthesiologists class II-IV [67.5%]) were identified. Antiplatelet, anticoagulant, and a combination of antithrombotic agents were used in 82, 30, and 8 patients, respectively. The perioperative management adhered to the therapeutic endoscopy guidelines published by the Japanese Society of Gastroenterological Endoscopy in most patients (88.3%). A poorer clinical baseline status (American Society of Anesthesiologists class II-IV; 67.0% vs 24.3%) and the sigmoid type (40.7% vs 22.3%) were more frequently observed in patients with achalasia on antithrombotic therapy. However, the clinical success (Eckardt score ≤ 3; 97.6% vs 94.6) and adverse event rates, such as bleeding and thromboembolic events (5.5% vs 4.7%), did not show inferiority. CONCLUSIONS: Per-oral endoscopic myotomy on antithrombotic therapy is safe and effective. However, caution is required as patients on antithrombotic therapy tend to have poorer baseline health and achalasia statuses. Our experience should help establish perioperative management with antithrombotic therapy.

Botox injection into the lower esophageal sphincter induces hiatal paralysis and gastroesophageal reflux.

BACKGROUND: Endoscopic intrasphincteric injection of Botox (ISIB) is used routinely for the treatment of achalasia esophagus and other spastic motor disorders. Studies show that the ISIB reduces the smooth muscle lower esophageal sphincter (LES) pressure. The esophageal hiatus, formed by the right crus of diaphragm, surrounds the cranial half of the LES and works like an external LES. We studied the effects of ISIB on the LES and hiatal contraction and gastroesophageal reflux (GER). Fourteen patients treated with ISIB were studied. Esophageal manometry-impedance recordings were performed before and after the ISIB. Hiatal contraction was assessed during tidal inspiration, forced inspiration, Müller's maneuver, and straight leg raise. In 6 subjects, the manometry were repeated 6-12 mo after the ISIB. The esophagogastric junction (EGJ) pressure was measured at end expiration (LES pressure) and at the peak of maneuvers (hiatal contraction). Transdiaphragmatic pressure (pdi; force of diaphragmatic contraction) was measured at the peak of forced inspiration. GER was measured from the impedance recordings. The EGJ pressure at end expiration (LES pressure) decreased significantly after the Botox injection. The peak EGJ pressure at tidal inspiration, forced inspiration, Müller's maneuver, and straight leg raise was also dramatically reduced by the ISIB. There was no effect of Botox on the pdi during forced inspiration. Seven of 10 subjects demonstrated GER during maneuvers following the ISIB. Six to 12 mo after ISIB, the LES and hiatal contraction pressure returned to the pre-ISIB levels. ISIB, in addition to decreasing LES pressure, paralyzes the esophageal hiatus (crural diaphragm) and induces GER.NEW & NOTEWORTHY The sphincter mechanism at the lower end of the esophagus comprises smooth muscle lower esophageal sphincter (LES) and skeletal muscle crural diaphragm (hiatus). Current thinking is that the endoscopic intrasphincteric injection of Botox (ISIB), used routinely for the treatment of achalasia esophagus, reduces LES pressure. Our study shows that ISIB, even though injected into the LES, diffuses into the hiatus and causes its paralysis. These findings emphasize the importance of esophageal hiatus as an important component of the antireflux barrier and that the ISIB is refluxogenic.

Complications of botulinum toxin injections for treatment of esophageal motility disorders†.

In achalasia and spastic esophageal motility disorders, botulinum toxin (botox) injection is considered an effective and low-risk procedure for short-term symptom relief. It is mainly offered to medically high-risk patients. However, no analysis of risks of botox injections has been performed. To determine the incidence and risk factors of procedure-related complications after esophageal botox injections, we analyzed the records of all patients undergoing botox injection therapy for esophageal motility disorders at four university hospitals in Europe and North America between 2008 and 2014. Complications were assigned grades according to the Clavien-Dindo classification. In 386 patients, 661 botox treatments were performed. Main indications were achalasia (51%) and distal esophageal spasm (DES) (30%). In total, 52 (7.9%) mild complications (Clavien-Dindo grade I) were reported by 48 patients, the majority consisting of chest pain or heartburn (29 procedures) or epigastric pain (5 procedures). No ulceration, perforation, pneumothorax, or abscess were reported. One patient died after developing acute mediastinitis (Clavien-Dindo grade V) following injections in the body of the esophagus. In univariate logistic regression, younger age was associated with an increased risk of complications (OR 1.43, 95%CI 1.03-1.96). Treatment for DES, injections into the esophageal body, more injections per procedure, more previous treatments and larger amount of injected botulinum toxin were no risk factors for complications. Esophageal botox injection seems particularly appropriate for high-risk patients due to low complication rate. However, it should not be considered completely safe, as it is associated with rare side effects that cannot be predicted.

Intrasphincteric Botulinum Toxin Injections to Treat Achalasia Diagnosed in 615 Pregnancy: A Case Report.

Background: Achalasia is an esophageal smooth muscle disorder characterized by failure of the lower esophageal sphincter to relax with swallowing. Case: A 17-year-old primigravid woman with an intrauterine pregnancy at 31+3 weeks reported an unintentional 22.5 kg weight loss in 2 years. Her body mass index was 15.9. Her symptoms included nausea, regurgitation, and worsening dysphagia. MRI suggested achalasia. She was started on total parenteral nutrition until she developed bacteremia. An esophagogastroduodenoscopy with Duotube placement and botulinum toxin A injections were performed. Tube feeds were initiated and continued until the Duotube became obstructed. The patient delivered at 37+4 weeks with mild preeclampsia. A postpartum barium swallow test indicated achalasia. Conclusion: A history of dysphagia to solids and/or liquids with weight loss should raise clinical suspicions for achalasia.

Esophageal perforation, inflammatory mediastinitis and pseudoaneurysm of the thoracic aorta as potential complications of botulinum toxin injection for achalasia.

Primary achalasia is a motility disorder of the esophagus involving impaired relaxation of the esophageal sphincter and, in later stages, dilatation and aperistalsis of the tubular esophagus. Endoscopic botulinum toxin injection to the lower esophageal sphincter is an effective and safe option in the treatment algorithm of achalasia, particularly in high-surgical-risk patients. In the present case report, we describe a rare complication of esophageal perforation following botulinum injection, resulting in associated inflammatory mediastinitis and formation of a pseudoaneurysm in the descending aorta. To the authors' knowledge, this is the first report in the literature of this rare complication of endoscopic botulinum injection. A contributing factor might have been the use of an injecting device with a significantly longer adjustable needle. Endoscopists should remain clinically vigilant to the potential complications associated with this common procedure.

Achalasia: a systematic review.

IMPORTANCE: Achalasia significantly affects patients' quality of life and can be difficult to diagnose and treat. OBJECTIVE: To review the diagnosis and management of achalasia, with a focus on phenotypic classification pertinent to therapeutic outcomes. EVIDENCE REVIEW: Literature review and MEDLINE search of articles from January 2004 to February 2015. A total of 93 articles were included in the final literature review addressing facets of achalasia epidemiology, pathophysiology, diagnosis, treatment, and outcomes. Nine randomized controlled trials focusing on endoscopic or surgical therapy for achalasia were included (734 total patients). FINDINGS: A diagnosis of achalasia should be considered when patients present with dysphagia, chest pain, and refractory reflux symptoms after an endoscopy does not reveal a mechanical obstruction or an inflammatory cause of esophageal symptoms. Manometry should be performed if achalasia is suspected. Randomized controlled trials support treatments focused on disrupting the lower esophageal sphincter with pneumatic dilation (70%-90% effective) or laparoscopic myotomy (88%-95% effective). Patients with achalasia have a variable prognosis after endoscopic or surgical myotomy based on subtypes, with type II (absent peristalsis with abnormal pan-esophageal high-pressure patterns) having a very favorable outcome (96%) and type I (absent peristalsis without abnormal pressure) having an intermediate prognosis (81%) that is inversely associated with the degree of esophageal dilatation. In contrast, type III (absent peristalsis with distal esophageal spastic contractions) is a spastic variant with less favorable outcomes (66%) after treatment of the lower esophageal sphincter. CONCLUSIONS AND RELEVANCE: Achalasia should be considered when dysphagia is present and not explained by an obstruction or inflammatory process. Responses to treatment vary based on which achalasia subtype is present.

Ethanolamine oleate as a novel therapy is effective in resistant idiopathic achalasia.

Idiopathic achalasia (IA) is a primary motor disorder of the esophagus. Recently, ethanolamine oleate (EO) has been introduced as a novel therapy in IA. We investigate the long-term efficacy of EO injection in the selected IA patients. Two hundred twenty patients with IA were evaluated prospectively. Thirty-one patients who were resistant to or poor candidate of pneumatic balloon dilation and/or cardiomyotomy were enrolled in this study. EO was injected into the lower esophageal sphincter three times at 2-week intervals. Patients were evaluated with the achalasia symptom score (ASS), timed barium esophagogram, and manometry before and after the injections. A good response was defined as a greater than 50% reduction from baseline in the ASS, height and/or volume of barium in TBE, and absence of severe dysphagia or regurgitation at 1.5 months after the last injection. Relapse was defined as two or more points increase in dysphagia score after an initial good response. The mean age of patients was 49.32 ± 19.3 years. Twenty-nine patients had a good response and two had a poor response. The mean ASS decreased from 12.48 (±2.06) to 4.50 (±2.96) (P = 0.0001), and the mean volume of barium decreased from 115.35 (±93.40) to 45.50 (±60.86) mL at 1.5 months after the last injection (P = 0.0001).The mean lower esophageal sphincter pressure was 30.47 ± 13.95 before the treatment and decreased to 14.30 ± 11.89 at 1.5 months after the treatment. (P = 0.0001). The mean duration of follow up was 30.16 ± 11.3 (18-68) months. Twelve patients in whom symptoms relapsed were treated effectively with reinjection. In some patients, minor complications (chest pain and erosion in the distal esophagus) occurred. This study indicates that EO has a long-term effect and can be considered for use in the selected IA patients.

The role of Botulinum toxin injection in the management of achalasia.

PURPOSE OF REVIEW: Botulinum toxin injection into the lower esophageal sphincter is an established therapy for the treatment of achalasia. This review will highlight recent studies that shed light on the role of Botulinum toxin injection in the management of achalasia. RECENT FINDINGS: Recent studies have shown that Botulinum toxin injection is the most common initial endoscopic therapy for achalasia, most likely due to its safety and ease of administration. However, this trend represents a deviation from recent guidelines which consider Botulinum toxin injection less efficacious than alternative treatments like pneumatic dilation and laparoscopic Heller myotomy. Over the past decade, multiple commercial formulations of Botulinum toxin injection have been introduced, but the techniques, indications, and therapeutic efficacy for Botulinum toxin have largely remained unchanged. This review will evaluate recent guidelines, consensus articles, meta-analyses, and landmark studies to expound on the short and long-term efficacy of Botulinum toxin, injection dosages, and technique, as well as its efficacy compared to pneumatic dilation, myotomy, and combination therapy. SUMMARY: Despite its relatively poor long-term efficacy, Botulinum toxin injection continues to play an important role in elderly patients with comorbidities and as salvage therapy for achalasia.

Echo-guided injection of botulinum toxin versus blind endoscopic injection in patients with achalasia: final report.

AIM: Achalasia, also known as Esophageal achalasia, is an esophageal motility disorder involving the smooth muscle layer of the esophagus and the lower esophageal sphincter (LES). It is characterized by incomplete LES relaxation, increased LES tone, and lack of peristalsis of the esophagus (inability of smooth muscle to move food down the esophagus) in the absence of other explanations like cancer or fibrosis. In our experience, the echo-guided injection technique is the first procedure to implement to cure patients. After endoscopic-echo-guided injection technique, in patients presenting with refractory symptoms, the authors believe in surgical technique (extramucosal myotomy) as a good alternative technique to be implemented. METHODS: From 1999 to 2010, the authors have treated 36 patients (Group A), 24 male and 12 female (age 26-78) with diagnosis of esophageal achalasia. Patients underwent botulinum toxin injection during echo-guided identification of the lower esophageal sphincter. Results were compared with 32 patients (Group B) (age 36-78) who underwent blind treatment. RESULTS: Patients of Group A presented complete relief of obstruction, patients of Group B had an obstruction remission in the 86% of the cases. Results were confirmed by manometric assessments in the early months after endoscopic treatment. CONCLUSION: The authors emphasize the importance of the injection of botulinum toxin into the thicker area of the muscle layer of the lower esophageal sphincter. Patients undergoing echo-guided injection technique presented complete relief of obstruction, confirmed by manometric assessments in the early months after treatment.

Esophageal achalasia, diagnosed through the repeated manometry, alleviated using benzodiazepine: A case report.

RATIONALE: Idiopathic achalasia is an esophageal peristaltic dysfunction of the lower esophageal sphincter (LES). The initial symptom is progressive dysphagia. However, due to its rarity, it is often misdiagnosed as an esophageal disorder. High LES pressure on esophageal manometry is an essential finding for the diagnosis. PATIENT CONCERNS: A 55-year-old man was hospitalized with saliva-like vomitus, stuck-in-throat feeling of dysphagia, and weight loss. CLINICAL FINDINGS: On initial admission, gastrointestinal endoscopy, esophageal manometry, laboratory tests, and physical examination results were within normal limits. DIAGNOSES, INTERVENTIONS, AND OUTCOMES: Initially, the patient was diagnosed with globus sensation and recovered with medication. However, the symptoms recurred. He requested another examination on the second admission and was diagnosed with achalasia based on repeat esophageal manometry. The patient recovered after surgical treatment. LESSONS: When patients still suffer from these symptoms, there is a need to reconsider achalasia, even if it is initially excluded from the differential diagnosis. Medication is not a radical treatment; however, it sometimes ameliorates symptoms. Moreover, the psychosomatic approach can be useful in such cases.

Intrasphincteric Botox injections in Hirschsprung's disease: indications and outcome in 64 procedures over a ten-year period.

BACKGROUND: Intrasphincteric botulinum toxin (Botox) injection for symptomatic postoperative anal achalasia in Hirschsprung's disease (HSCR) has found wide application in the last twenty years. The aim of this study was to describe effectiveness and functional outcome of a series of patients treated over a 10-year period. METHODS: All consecutive HSCR patients who received intrasphincteric Botox injections between January 2007 and December 2016 were included. Demographic data and clinical features were collected. A detailed questionnaire focusing on outcome in the medium and long-term was administered to all families. RESULTS: In the study period 64 intrasphincteric Botox injections were performed in 31 patients. Completed questionnaires were returned by 27 out of 28 eligible patients (96%) reporting improvement or symptoms resolution in 16 (59%). The highest success rates were experienced by patients younger than 4, with long HSCR forms and with recurrent enterocolitis (75%, 100% and 100% of success rates, respectively). No major complications occurred. Minor complications were described by 7 patients (26%). CONCLUSIONS: Intrasphincteric Botox injection proved to be feasible, safe and reasonably effective in children with HSCR and postoperative anal achalasia. Infants and toddlers with long HSCR forms and recurrent bouts of enterocolitis are those who would benefit most from this treatment.

A case of vomiting in an anorexic achalasic patient.

Wernicke's encephalopathy is a neurological disorder caused by thiamine (vitamin B1) deficiency characterized by vertigo, ataxia, and mental confusion. Wernicke's encephalopathy has a causative association with alcoholism but recently there has been an increased prevalence also in other clinical conditions. In literature potentially fatal Wernicke's encephalopathy onset in an advanced achalasia has been previously reported only once. We describe for the first time an improvement of achalasic symptoms in a young patient affected by end-stage achalasia and anorexia nervosa (coming from ineffective Heller-Dor myotomy) after vitamin B1 supplementation. This case report suggest a potential positive impact of B1 supplementation on end-stage achalasic patients and requires systematic studies to confirm this observation.

The feasibility, safety and outcomes of laparoscopic re-operation for achalasia.

INTRODUCTION: Heller myotomy for achalasia is associated with a recurrence rate of around 10%, thus reoperative surgery is often necessitated. This paper aims to review the available literature on laparoscopic reoperation for achalasia in order to assess its feasibility and effectiveness. MATERIAL & METHODS: A Medline, Embase, Ovid, Cochrane database and Google(TM) Scholar search was performed with the following Mesh terms: "laparoscopic", "redo", "reoperative", "Heller's", "esophagomyotomy" and "achalasia". Outcomes of interest included patient demographics and details of primary procedure, operative details, intra- and post operative complications and symptom scores. RESULTS: Seven studies reported outcomes from 54 cases. Conversion occurred in 7% (4/54) of cases. Thirteen percent (7/54) of patients sustained intra-operative gastric or oesophageal perforation; however these were all noted and repaired intra-operatively leading to no subsequent morbidity. No deaths were reported. Pre- and post operative symptom scores were heterogeneous, however did appear to improve after the procedure. DISCUSSION: This review demonstrates that laparoscopic reoperation for achalasia is feasible and safe with complication rates comparable to the primary laparoscopic operation. It is recommended that laparoscopic reoperative Heller's myotomy should only be performed by surgeons with special interest in oesophagogastric surgery and adequate experience in laparoscopic surgery for achalasia.

A randomized crossover study of compounded liquid sildenafil for treatment of generalized megaesophagus in dogs.

OBJECTIVE: To determine whether delivery of compounded liquid sildenafil directly to the stomach of dogs with megaesophagus (ME) would affect esophageal clearance, regurgitation frequency, body weight, or quality of life. ANIMALS: 10 client-owned otherwise healthy dogs with stable ME. PROCEDURES: A randomized crossover study was performed. Dogs received either sildenafil (1 mg/kg, PO, q 12 h) or a placebo for 14 days, followed by a 7-day washout period, then the opposite treatment for 14 days. Esophageal clearance time was assessed by means of videofluoroscopy prior to treatment and on day 1 of each treatment period. Owners maintained logs of regurgitation episodes and quality of life. RESULTS: Compounded liquid sildenafil moved into the stomach during 21 of 30 (70%) videofluoroscopy sessions. Sildenafil resulted in a significant reduction in the number of regurgitation episodes (median, 3.5 episodes/wk; range, 0 to 14.5 episodes/wk), compared with baseline (median, 6.5 episodes/wk; range, 1.5 to 19.5 episodes/wk) and the placebo (median, 4 episodes/wk; range, 0 to 28 episodes/wk), and a significant increase in body weight (median, 22.05 kg; range, 6 to 26.3 kg), compared with baseline (median, 21.55 kg; range, 5.1 to 26.2 kg) and the placebo (median, 22.9 kg; range, 5.8 to 25.9 kg). There were no differences in esophageal clearance times or quality-of life-scores between sildenafil and placebo. CLINICAL RELEVANCE: Although significant differences with placebo administration were identified, clinically relevant improvements were not seen with the use of compounded liquid sildenafil in dogs with ME.

Achalasia with dense eosinophilic infiltrate responds to steroid therapy.

A patient presented with chronic substernal discomfort and intermittent dysphagia for solids. High-resolution impedance manometry (HRIM) of the esophagus showed that there was no peristalsis in the esophageal body but incomplete relaxation of the lower esophageal sphincter and incomplete bolus transit, so the patient was diagnosed with achalasia. Moreover, probably because of esophageal stasis, eosinophilic infiltration that mimicked a pattern of eosinophilic esophagitis was observed, on the basis of multiple biopsies of the esophagus. The patient was given 50 mg prednisolone once daily; the symptoms improved dramatically, and HRIM showed complete recovery of esophageal peristalsis, deeper relaxation of the lower esophageal sphincter, and complete bolus transit profile. HRIM can therefore be used to assess dysmotility abnormalities in patients with achalasia and eosinophilic-like esophagitis, and steroids relieve these symptoms. Treatment with a high dose of prednisolone resulted in a complete disappearance of dysphagia because of improved esophageal motility and reduced eosinophilic infiltrate. It is therefore important to control the inflammatory process in patients with idiopathic achalasia, which is likely to result from an autoimmune reaction.

Ultrasound, electromyography, and balloon guidance for injecting botulinum toxin for cricopharyngeal achalasia: A case report.

INTRODUCTION: Botulinum toxin (BTX) injection is a widely used treatment option for dysphagia associated with cricopharyngeal (CP) muscle achalasia, but uniform standards and protocols for administration techniques and injection sites are still lacking. This case study suggests that a unique administration technique involving a combination of ultrasound, electromyography, and balloon guidance for injecting the CP muscle can reduce inadvertent migration of BTX to non-injected tissues and increase the effectiveness and safety of BTX treatment. PATIENT CONCERNS: We describe the case of a 74-year-old man who could not swallow food or saliva for 8 months. DIAGNOSIS: The patient showed signs of true bulbar paralysis, including dizziness, hoarseness, and dysphagia. The fiberoptic endoscopic evaluation of swallowing showed massive mucilage secretion and residual materials in the postcricoid region and aspiration when swallowing 1 ml of yogurt. The video fluoroscopic swallowing study showed profoundly limited epiglottic folding and CP muscle non-relaxation, despite several unsuccessful swallow attempts. INTERVENTIONS: To manage insufficient relaxation opening of the CP muscle, BTX injection was performed using ultrasound, electromyography, and balloon catheter guidance. The narrow CP muscle situated above the balloon was identified as the target of injection by ultrasound. OUTCOMES: The patient was able to eat a soft diet. The follow-up fibrotic endoscopic swallowing study demonstrated a reduction in the amount of pharyngeal residue. The video fluoroscopic swallowing study showed that CP muscle relaxation was significantly enhanced and no penetration was shown. CONCLUSION: The unique administration technique with triple guidance holds several advantages, suggesting that it may be a promising treatment for CP muscle achalasia.

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.

Combined treatment of achalasia - botulinum toxin injection followed by pneumatic dilatation: long-term results.

Injection of botulinum toxin (BT) and pneumatic dilatation are available methods in nonsurgical treatment of achalasia. Authors anticipate beneficial effect of prior BT injection on the success of pneumatic dilatation and duration of its effect. There are no long-term data available to assess efficacy of combined treatment. From 1998 to 2007, 51 consecutive patients (20 men and 31 women, age 24-83) with achalasia were included and prospectively followed up. Each patient received injection of 200 IU of BT into the lower esophageal sphincter (LES) during endoscopy and 8 days later pneumatic dilatation (PD) under X-ray control was performed. The follow-up was established every 3 months first year and then annually. The efficacy was evaluated by a questionnaire concerning patient's symptoms and manometry. Results were compared with 40 historical controls (16 men and 24 women, age 26-80) treated by PD alone using the same method and follow-up. Fifty-one patients underwent combined treatment. Four patients failed in follow-up and were not included for analysis. The mean duration of follow-up was 48 months with range 12-96 months. Thirty-four of forty-seven (72%) patients were satisfied with results with none or very rare and mild troubles at the time of the last visit. Forty-one patients were followed up more than 2 years. Effect of therapy lasted in 75% (31/41) of them. In 17 patients, more than 5 years after treatment, effect lasted in 12 (70%). Mean tonus of LES before therapy was 29 mm Hg (10-80), 3 months after therapy decreased to 14 mmHg (5-26). The cumulative 5 years remission rate (+/-95% CI) in combined treated patients 69% +/- 8% was higher than in controls 50% +/- 9%; however it, was not statistically significant (P= 0.07). In control group 1, case of perforation (2.5%) occurred. Eight patients (17%) with relapse of dysphagia were referred to laparoscopic Heller myotomy with no surgical complication. The main adverse effect was heartburn that appeared in 17 patients (36%). Initial injection of BT followed by PD seems to be effective for long-term results with fewer complications. But the combined therapy is not significantly superior to PD alone.