Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Laparoscopic fundoplication is the current standard operation for gastroesophageal reflux disease and achalasia. An esophageal bougie is often placed for constructing a wrap or performing myotomy easily during the operation. The surgical complications reportedly include hemorrhage, esophageal perforation, gastric perforation, and vagus nerve damage. However, to the best of our knowledge, there is no report of any case of esophageal bougie misinsertion into the lower esophageal mucosa. The patient was a woman in her 50s who underwent laparoscopic Heller-Dor operation for achalasia in April 2007. During myotomy, we encountered difficulty in inserting a 56Fr-bougie and eventually realized that we had misinserted the Endolumina through the pyriform sinus into the esophageal mucosa. As the pyriform sinus injury was limited to the mucosa and there was no evidence of mediastinal perforation as assessed by intraoperative endoscopic examination, we continued the laparoscopic operation. On postoperative day 1, the patient complained of mild chest pain and pharyngeal pain, but there were only few signs of inflammation. Chest computed tomography revealed findings suggestive of a hematoma extending from the neck to the lower chest, most prominently in the right esophageal wall, however, the patient was followed up conservatively as there was no clear indication of perforation. Subsequently, both the chest pain and pharyngeal pain subsided. On postoperative day 5, the patient was allowed oral water intake, as a gastrografin swallow study did not indicate any problems. On postoperative day 6, the patient was allowed semiliquid foods orally. She was discharged from the hospital on day 11, without any particular problems. Currently, 10 months postsurgery, she is doing well, without any recurrence of symptoms such as dysphagia.
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PMID:Misinsertion of an esophageal bougie between the mucosa and muscular layer of the lower esophagus during operation in a case of achalasia. 2002 75

Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene, located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with significant central and peripheral nervous system involvement. She was later diagnosed with oligosymptomatic triple A syndrome. Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p.L430F-c.1288C>T and c.1331+1G>T), one of which is novel. Allgrove syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima, achalasia or adrenal insufficiency).
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PMID:Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. 2005 Dec 79

Esophageal achalasia is a primary esophageal motility disorder. Commonly used treatments are botulinum toxin injections, endoscopic balloon dilation and surgical myotomy with or without fundoplication. We are hereby presenting the first case of laproscopic myotomy with fundoplication performed in Croatia. A 32-year old female was admitted to the hospital due to the symptoms of dysphagia, regurgitation, chest pain and weight loss. Upper gastrointestinal tract radiography with contrast and flexible endoscopy confirmed the clinical diagnosis of achalasia. She was treated by the Heller laparoscopic procedure and Dor anterior fundoplication. The patient had a successful recovery and was discharged on the fifth postoperative day. This case shows that laparoscopic treatment of achalasia is a feasibile and safe procedure which can be performed even in a small country hospital, but it requires great technical care and experience of the surgeon.
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PMID:Laparoscopic treatment of achalasia--first case in Croatia. 2125 18

Achalasia is characterised by the loss of peristaltic movement in the distal oesophagus and failure of the lower oesophageal sphincter relaxation, which results in impaired oesophageal emptying. We report a case of a 92-year-old frail woman with a history of achalasia, who presented with acute oesophageal obstruction due to impaction of a large amount of food material. She was treated successfully with nifedipine, in combination with Coca-Cola (original product, not sugar free), so avoiding the risks associated with repeated endoscopic intubation and piecemeal removal of the oesophageal content.
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PMID:Oesophageal food impaction in achalasia treated with Coca-Cola and nifedipine. 2224 73

Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome.
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PMID:Allgrove syndrome. 2258 89

Achalasia is a rare disorder characterised by obstruction of the distal oesophagus and subsequent dilation of the proximal oesophagus. Patients generally complain of gastrointestinal symptoms; however, pulmonary symptoms and complications may also occur. A 35-year-old woman was brought to our emergency service complaining of sudden-onset dyspnea that started 15 minutes earlier during dinner. She suffered a cardiopulmonary arrest due to aspiration 5 minutes after being admitted to the emergency room and was intubated. Thoracic computed tomography examination showed that her oesophagus was filled with undigested food. Heller cardiomyotomy and Dor fundoplication was performed via laparotomy with the diagnosis of primary achalasia, and she was discharged as uneventful on the 5th postoperative day.
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PMID:A case of achalasia presented with cardiopulmonary arrest. 2332 47

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

Esophageal perforation in achalasia is rare. The risk would mainly follow pneumatic dilatation, and spontaneous perforation has not been described. We report a case of spontaneous rupture of the midesophagus in a 56-year-old woman with treated achalasia in whom the perforation occurred during a meal and was not preceded by emesis. A gastrografin swallow confirmed extravasation of contrast medium from the esophagus, and endoscopy revealed significant esophageal food stasis, consistent with achalasia, with a large tear in the midesophagus and gross mediastinal contamination. She subsequently underwent a three-stage esophagectomy with an uneventful recovery.
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PMID:Spontaneous perforation of the esophagus in a patient with achalasia. 2408 58

A 72-year-old woman presented with long-standing gastro-oesophageal reflux, regurgitation of swallowed food and worsening cervical dysphagia. Fluoroscopic barium oesophagography revealed a posterolateral pharyngeal pouch (Zenker's diverticulum (ZD)) complicating a 'cup and spill' oesophageal deformity with a smoothly tapered segment at the gastro-oesophageal junction. CT and high-resolution manometry confirmed that the underlying abnormality was a massively dilated oesophagus with aperistalsis and pan-oesophageal pressurisation, consistent with a diagnosis of oesophageal achalasia (type II). She underwent endoscopic stapled diverticulotomy, with good symptomatic relief. We discuss the aetiology of ZD, its management and the association here with oesophageal achalasia.
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PMID:Zenker's diverticulum complicating achalasia: a 'cup-and-spill' oesophagus. 2433 71

Abnormal eating behaviour among psychiatric patients is associated with several psychiatric conditions, but may also be caused by a comorbid physical condition. Clinical assessment of a psychiatric patient is often challenging, which contributes to an increased rate of undiagnosed medical conditions and an increased mortality rate. We present the clinical case of a 46-year-old woman with a long-term delusion of triplet pregnancy, and recurrent vomiting. She experienced intense weight loss and eventually faced a life-threatening situation due to achalasia, which was incidentally discovered on a chest X-ray during her second psychiatric hospitalization, after several other tests, including upper digestive endoscopy, returned normal results. After a successful laparoscopic Heller's myotomy, her digestive symptoms greatly improved. This report illustrates the difficulty of establishing clinical-surgical diagnoses in psychotic patients, as some delusions seem to explain clinical complaints, masking and delaying the diagnosis of comorbid conditions.
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PMID:Pregnancy delusion hinders the diagnosis of achalasia in a patient with life-threatening emaciation. 2598 26


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