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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Achalasia is a rare motility disorder of the esophagus which results from lack of enervation of the lower esophageal sphincter muscles and leads to dilatation of proximal esophagus. Patients with achalasia presents typically with dysphagia, vomiting of undigested food and failure to thrive. Cough can be present in achalasia patients due to aspiration of food or due to airway compression by the dilated esophagus. We report two cases of achalasia presenting primarily with prolonged cough. Diagnosis of achalasia in both cases was delayed due to this atypical presentation. This highlights the importance of recognizing achalasia as a potential cause of chronic cough in order to avoid delayed diagnosis and mismanagement.
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PMID:Achalasia: unusual cause of chronic cough in children. 1865 83

Esophagopericardial fistula (EPF) is an uncommon complication of esophageal disease. Although, the esophagus is in direct contact with the pericardium in the lower thoracic vertebrae level, EPF is still rare. Recorded causes of EPF include ingested foreign bodies such as fish bone, benign ulceration in association with hiatus hernia, esophageal carcinoma, and achalasia. Congenital EPF occurs even less but with a high ratio of mortality and misdiagnosis. We present a case of PEF in a 1-year-old boy. It is unique in that the patient was a very young child which is rarely reported in literature and the main cause factor seemed to be repeated vomiting since birth. However, he had a good outcome with surgical treatment.
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PMID:Pneumopericardium and esophagopericardial fistula presenting as pericarditis in a 1-year-old boy. 1877 25

Eating disorders are commonly considered diagnoses in young women who present with unexplained weight loss and vomiting. Our objective was to report the increased awareness of eating disorders and that it is likewise important to recognize that organic pathology (achalasia) can cause symptoms that may mimic an eating disorder and lead to misdiagnosis. Two case reports are presented and a review of the existing literature is provided. In the first patient, initial diagnosis of nonclassified eating disorder based on a pubertal conflict was made, and 3.5 years later diagnosis of primary achalasia was established. Atypical bulimia nervosa was initially suspected in the other case, but diagnosis of achalasia was established at an early stage of evaluation. The exclusion of organic disease must be a priority, even if a psychotherapeutic intervention may be needed in the global care of eating disorder patients. Esophageal achalasia should be considered in anyone presenting with difficulty swallowing or dysphagia, even if other features suggest anorexia nervosa or bulimia nervosa.
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PMID:Achalasia mistaken as eating disorders: report of two children and review of the literature. 1980 34

Achalasia is a rare motility disorder which causes failure of relaxation of the lower oesophageal sphincter (LES) and is thought to affect 0.31/100,000 children per year in Ireland. The classic presentation is difficulty swallowing and vomiting undigested food, and children can often present with chest pain. In some instances, these symptoms can lead to considerable weight loss. In this report, we present 2 cases of patients with achalasia who have also been the first 2 cases of laparoscopic Heller's cardiomyotomy performed in children in the Republic of Ireland.
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PMID:Laparoscopic Heller's cardiomyotomy. 2010 7

Esophageal hamartoma is a rare entity, as only 7 cases have been previously reported in the English-language literature. Common symptoms include dysphagia, weight loss, and vomiting. Life-threatening airway obstruction can also occur. Because of the nonspecific nature of the symptoms, patients with these dangerous polyps are often misdiagnosed as having more common entities such as gastroesophageal reflux, peptic ulcer disease, or achalasia. Most of these tumors are missed on esophagoscopy and radiologic studies, and they can go undiagnosed for years. We diagnosed an esophageal hamartoma in an infant girl who had first presented when she was 8 days old with symptoms of apnea and cyanosis. The patient had undergone a multitude of tests since her birth, and she was eventually diagnosed with episodic bradycardia. When the patient was 6 weeks old, we discovered a polyp on nasopharyngolaryngoscopy, and we removed it by microdirect laryngoscopy and esophagoscopy. This patient was the youngest of the 8 who have now been reported to have been diagnosed with a hamartomatous polyp, and she was the only one to have presented with apnea (secondary to airway obstruction) and bradycardia. We recommend microdirect laryngoscopy and esophagoscopy to remove these pedunculated cervical esophageal lesions. A transcervical approach is warranted for sessile distal esophageal polyps. Esophageal polyps are an interesting entity in view of their rarity and intriguing presentations. Because esophageal obstructions can be life-threatening, further evaluation by laryngoscopy, bronchoscopy, and esophagoscopy is warranted when symptoms of dysphagia, vomiting, intermittent apnea, bradycardia, and weight loss persist despite conventional treatment.
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PMID:Esophageal hamartoma as an unusual cause of neonatal apnea and bradycardia. 2022 70

Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities. Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (GER), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with Williams-Beuren syndrome in the literature. We present the case of a boy with Williams-Beuren syndrome, achalasia and recurrent postoperative stenosis of the cardia. After Heller myotomy, the boy developed severe restenosis of the cardia with abundant adhesions which repeated after every treatment, five times in periods shorter than one month. Eventually, he developed GER, errosive gastritis and hiatal hernia which led to severe malnutrition and failure to thrive. Although the genetic defect causing Williams-Beuren syndrome might not be the direct cause of achalasia we suggest that the frequent development of severe restenosis of cardia due to tight adhesions could be the consequence of elastin gene haploinsufficiency and altered structure and function of elastic fibers in esophageal connective tissue. This case highlights the importance of early diagnosis of esophageal motor disorders in childhood which should be included in the differential diagnosis when a child with Williams-Beuren syndrome presents with dysphagia and/or regurgitation.
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PMID:Recurrent achalasia in a child with Williams-Beuren syndrome. 2205 84

A 59 years old woman was admitted in our unit accusing longtime dysphagia and regurgitation. On admission, the patient was wearing a 3 month old definitive feeding gastrostomy tube. The contrast swallow, endoscopy and esophageal manometry established the diagnostic--achalasia. We removed the gastrostomy tube and we performed an open Heller myotomy. The postoperative period was uneventful and the patient was discharged one week later with affirmatively unimpaired deglutition. One month later, the patient was admitted via emergency with a giant fibrous tumor arising from her mouth after an episode of strong coughing and vomiting. The repeated endoscopy showed a giant esophageal polyp that was missed by the previous investigations, originating from pharingoesophageal junction. The esophageal polyp was resected by cervical approach with good postoperative outcome. The polyp's particular extreme dimensions (27 cm) prevented the acute asphyxia by blockage at the laryngeal level, possibly provoked by smaller tumors. As postoperative one month barium swallow showed a normal esophageal aspect, a final question remains--was achalasia real or an erroneous diagnosis was established the second time too?
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PMID:Giant fibrovascular esophageal polyp misdiagnosed as achalasia. 2302 20

We report the first case of cardiopulmonary arrest (CPA), caused by oesophageal achalasia, which recovered completely with cardiopulmonary resuscitation (CPR) followed by therapeutic hypothermia. A 53-year-old woman arrived at our hospital with recovery of spontaneous circulation (ROSC) after cardiac arrest. Dysphagia, vomiting and general fatigue had progressed for a week before. After an ambulance was called for severe dyspnoea, she collapsed in CPA. Emergency medical technicians arrived and CPR was started immediately. She experienced CPA and ROSC twice during transport to the hospital. On arrival, the patient was in respiratory distress prompting immediate intubation to eliminate airway obstruction. A CT scan revealed a transformed, occluded trachea owing to a dilated oesophagus. A large amount of food, air and saliva was suctioned with a nasogastric tube, and the patient was admitted to the intensive care unit for therapeutic hypothermia. Neurological recovery was evident. On the 11th day, pneumatic dilatation was performed and she was discharged on the 33rd day.
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PMID:Cardiopulmonary arrest owing to oesophageal achalasia recovered completely with cardiopulmonary resuscitation followed by therapeutic hypothermia. 2335 94

A 38-year-old Caucasian woman, gravida 3 para 2, was admitted at 29 weeks of gestation because of vomiting, dysphagia for solids and liquids, and loss of weight. An enlargement of the anterior left neck region was noted on the palpation of the thyroid gland. An MRI of the neck showed a marked esophageal dilatation with the presence of food remnants along its length and the displacement of the trachea to the right. The findings of the upper gastrointestinal endoscopy and manometry were suggestive of esophageal achalasia. Conservative management with total parenteral nutrition (TPN) through a peripheral line proved to be successful. A healthy male baby was born by a cesarean section at 37 weeks. The patient underwent laparoscopic esophageal myotomy and fundoplication seven days postpartum.
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PMID:Esophageal Achalasia: An Uncommon Complication during Pregnancy Treated Conservatively. 2336 74

Chronic disturbances of gastrointestinal function encompass a wide spectrum of clinical disorders that range from common conditions with mild-to-moderate symptoms to rare diseases characterized by a severe impairment of digestive function, including chronic pain, vomiting, bloating and severe constipation. Patients at the clinically severe end of the spectrum can have profound changes in gut transit and motility. In a subset of these patients, histopathological analyses have revealed abnormalities of the gut innervation, including the enteric nervous system, termed enteric neuropathies. This Review discusses advances in the diagnosis and management of the main clinical entities--achalasia, gastroparesis, intestinal pseudo-obstruction and chronic constipation--that result from enteric neuropathies, including both primary and secondary forms. We focus on the various evident neuropathologies (degenerative and inflammatory) of these disorders and, where possible, present the specific implications of histological diagnosis to contemporary treatment. This knowledge could enable the future development of novel targeted therapeutic approaches.
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PMID:New perspectives in the diagnosis and management of enteric neuropathies. 2339 25


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