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)

The authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no demonstrable chromosomal abnormality. In this family achalasia, microcephaly, and mental retardation occurred together as an apparent autosomal recessive syndrome.
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PMID:Achalasia and microcephaly. 721 47

Ten consecutive patients (ages 10 to 17) with achalasia of the esophagus diagnosed by radiographic, manometric, and endoscopic criteria were treated by forceful dilatations of the lower esophageal sphincter. A good to excellent response was seen in eight of the ten patients, manifested by disappearance of vomiting, improvement in dysphagia, and weight gain. A decrease in resting gastroesophageal sphincter pressure was documented in four patients tested. Short-term complications of fever or chest pain were seen following three of 18 procedures; however, barium swallow was negative for perforation and symptoms resolved spontaneously without treatment. Our findings suggest that pneumatic dilatation may produce similar results as surgical esophagomyotomy (Heller procedure) without the immediate operative morbidity, cost, and potential long-term effects.
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PMID:Successful treatment of achalasia in childhood by pneumatic dilatation. 725 67

Two girls, a 11- and 15-year-old are presented with a history of recurrent episodes of vomiting, failure to gain satisfactory weight and dysphagia secondary to an idiopathic achalasia of the esophagus. Attention is drawn to the functional pathology, symptoms, diagnostic procedures and several treatment options.
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PMID:[Achalasia--an uncommon cause of severe esophageal motor disorder in children. A case history]. 756 90

Regurgitation of esophageal contents is referred to as esophageal emesis or esophageal vomiting. It is most likely to be confused with symptoms arising from disease proximal or distal to the esophagus, particularly the latter. Therefore, it is important to distinguish between esophageal vomiting and typical vomiting, although in the former group, the regurgitated contents are ingested food and/or saliva; recognition of the exact site of the pathological disorder may necessitate investigation. A wide variety of investigations may be necessary. Disease processes to be considered in the diagnosis include congenital stricture, achalasia and other motility disorders of the esophagus, foreign-body impaction, and acquired strictures of the esophagus, such as peptic or corrosive strictures.
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PMID:Esophageal disorders associated with emesis in infants and children. 758 87

A 65-year-old man with an occupational history of asbestos exposure developed dysphagia and vomiting. Clinical examinations at onset revealed a dilated esophagus with smooth narrowing at the gastroesophageal junction and no apparent tumor in and around the esophagus. Achalasia was suspected. Dysphagia progressed gradually and examinations performed three months after the onset disclosed a tumor in the pleural and the peritoneal cavities. At laparotomy, the tumor extended from the pleural cavity into the peritoneal cavity. Histological examination of the biopsied specimen demonstrated malignant mesothelioma. We report the first case of malignant pleural mesothelioma presenting as achalasia.
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PMID:Malignant pleural mesothelioma presenting as achalasia. 782 80

The authors present their experience with surgical treatment of achalasia of the oesophagus in child age. During a nine-year period (1984-1992) they operated 11 children with achalasia. The group comprised 6 boys and 5 girls. The mean age at the time of operation was 9.5 years. The youngest patient was operated at the age of 14 months and the oldest one at the age of 15 years. The main clinical symptoms at the time of establishment of the diagnosis were: vomiting in 91%, dysphagia in 64%, the children did not thrive and lost weight in 36%; they suffered from relapsing bronchopneumonia in 27%, chronic bronchitis in 9%, bronchial asthma in 9% and one female patient was treated and followed up on account of anorexia nervosa. In six patients a modification of Heller's operation was performed with left-sided thoracotomy which in three patients was supplemented by anti-reflux Belsey Mark IV plastic operation. During the last three years five patients were operated from an abdominal approach and myotomy was supplemented by Nissen fundoplication. At present the authors prefer and abdominal approach and supplement myotomy of the distal oesophagus by Nissen fundoplication.
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PMID:[Surgery of achalasia in childhood. The thoracic or abdominal approach?]. 805 19

We have reported a rather extreme instance in which achalasia was misdiagnosed as a primary eating disorder. Our patient spent 2 months in a psychiatric institution before the correct diagnosis was made. Misdiagnosis in this case could have been avoided (1) if the symptoms of dysphagia had been elicited as part of her history, (2) if it had been recognized that the vomiting (her dominant symptom) was involuntary and not self-induced, (3) if the absence of disturbed body image had been appreciated, or (4) if it had been recognized that she did not meet accepted criteria for anorexia nervosa or bulimia. Our case and others like it in the literature also illustrate that achalasia frequently remains an elusive diagnosis.
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PMID:Achalasia mistakenly diagnosed as eating disorder and prompting prolonged psychiatric hospitalization. 827 22

The neuromotor disorders of the oesophagus are rare in childhood. The spectrum includes achalasia, vigorous achalasia and diffuse oesophageal spasm. The classical presentation in achalasia is vomiting, failure to thrive and recurrent chest infection. Diagnosis is confirmed on plain film of the chest and a barium swallow which shows the "bird beak" sign. Surgery is the preferred mode of management in children. Adjunctive procedures to surgery like Nissen fundoplication should be selectively performed.
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PMID:Childhood achalasia--a case report. 831 17

A diagnosis of diffuse esophageal spasm (DES) based on radiological and manometric studies was made in a 70-year-old man who presented with severe dysphagia, vomiting, and spontaneous chest pain. The manometric studies revealed a simultaneous onset of high amplitude contractions and a hypertensive lower esophageal sphincter (LES) that was well relaxed in response to deglutition, in contrast to the incomplete relaxation seen in achalasia. Because his dysphagia was so severe and did not respond to pneumatic dilatation, the patient was treated by a long esophageal myotomy with a full thickness incision through the LES and mucosa, adding a Thal-Hatafuku procedure. The patient made a good postoperative recovery and has since been eating normally without any further dysphagia or chest pain. Good manometric and radiological results have been obtained in this patient during 5 years of follow-up.
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PMID:Long esophageal myotomy with a fundic patch procedure for treating diffuse esophageal spasm: report of a case. 831 91

We report the case of a 74-year-old woman who presented with a 2-year history of dysphagia, weight loss, nausea, and vomiting. She was diagnosed as having secondary achalasia due to external compression probably by a tumor of the lower part of the esophagus. At autopsy, however, no tumor was found at that site, whereas a pancreatic microcystic serous adenoma and multiple gastric leiomyomata--one of which occupied the pyloric sphincter area leading to gastric outlet obstruction--were noted. The esophagus displayed two fusiform dilatations located at the lower and midportions, the latter being associated with rupture and necrosis of the muscularis and adventitial wall layers. The lower dilatation showed only attenuation of the muscularis, without necrosis. The epithelium was intact in both dilatations. This was an unusual series of pathogenetic events, leading from gastric outlet obstruction to secondary achalasia and protracted vomiting, followed by spontaneous partial esophageal wall rupture (a variant of intramural hematoma) or atrophy of the muscularis, morphologically evident as fusiform dilatations.
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PMID:Fusiform dilatations of the esophagus secondary to protracted distention and emetogenic injury. 834 53


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