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

A case of dysfunctioning of the oesophageal opening is reported. The patient, aged 71 years, had had difficulty in swallowing for a long time, complicated by the recent onset of obvious dysphagia. Radiological examination of the oesophagus revealed the presence of a permanent notch in the posterior wall in the crico-pharyngeal region. The endoscope could not pass through the oesophageal opening but radiocinematography did not reveal any obvious organic lesion. The dysphagia and crico-pharyngeal notch disappeared after myotomy. This case is one the rare examples of pharyngo-oesophageal incoordination wrongly called crico-pharyngeal achalasia, as there does not appear to be any disorder of relaxation of the upper oesophageal sphincter, and this was demonstrated by the postoperative manometric study carried out in our patient.
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PMID:[A case of dysphagia due to dyskinesia of the oesophageal opening (author's transl)]. 74 89

The histopathology of 40 cases of achalasia of the cardia, 6 cases of oesophageal spasm-incoordination and 4 cases of scleroderma was examined. Three cases of carcinoma and 6 cases of reflux oesophagitis were used as a control group. A nearly complete loss of myenteric ganglion cells was found in the upper thickened segment in achalasia. Some surviving ganglion cells were found in the lower segments in half the cases of achalasia; in two cases counts were normal in this segment. The occurrence of neuronal chromatolysis in 9 biopsies of achalasia supports the view that an active disease process was involved. The preganglionic parasympathetic fibres in two cases of achalasia were normal in appearance and number; this somewhat limited evidence tends to count against a primary disorder of the preganglionic neurone in this condition. The 6 cases of oesophageal spasm-incoordination showed similar neuronal loss to that in the lower segment in achalasia. Possibly "oesophageal spasm" represent an early stage or incomplete expression of achalasia. One cases of scleroderma showed loss of ganglion cells, but the myenteric plexus was here involved by the disease process. None of the 9 cases in the control group showed any loss of ganglion cells or chromatolysis. Acute and chronic inflammation was not convincingly associated with loss of ganglion cells in either achalasia or oesophageal spasm.
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PMID:Ganglion cells in achalasia of the cardia. 82 85

Twenty-four patients with the 1st branchial arch (Goldenhar) syndrome have been ascertained ranging in age from newborn to 58 years. In infancy, the ocular, auricular, and palatal problems appear most prominent. In childhood, the correction of, or compensation for, hearing deficit assumes greater importance. Incoordination of deglutition, achalasia of the esophagus, hiatus hernia, and mobile cecum (hitherto unreported features) are characteristically troublesome in infancy and early childhood. Cosmetic problems though significant throughout, engender particular concern during adolescence and early adulthood. Spinal problems with early vertebral degenerative changes cause clinical difficulty requiring surgery during adulthood. Fertility appeared to be unimpaired and longevity is probably unaffected (although our oldest patient is less than 60 years old). Only three cases were mentally subnormal and none died following ascertainment.
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PMID:The Goldenhar syndrome: a natural history. 89 Jan 16

Achalasia of the cardia is an uncommon condition with an incidence of 0.1 cases per year per 100,000 population under 14 years. A review of experience at Booth Hall Children's Hospital over the past 10 years has revealed six cases of achalasia in children. This includes two cases of the rare syndrome of achalasia, alacrima and ACTH insensitivity (also known as Triple A syndrome) and its variants. There are 23 previously reported cases of Triple A syndrome and a further eight cases of its variants reported in the world literature. One-third of these cases (10 out of 31) have associated neurological abnormalities. The clinical and radiological features of achalasia are reviewed. The importance of barium studies in making the diagnosis is emphasized. However, early cases may show only spasm or incoordination, and manometry is required to confirm the diagnosis in these equivocal cases. In this series only three of the six barium studies were diagnostic and the remainder were diagnosed by manometry; all cases were subsequently confirmed by histology. Delay in diagnosis may result in severe lung damage due to repeated aspiration; this occurred in one of the six cases and was the cause of the child's death.
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PMID:Achalasia of the cardia in childhood and the syndrome of achalasia alacrima and ACTH insensitivity. 160 7

Examination of the pharyngoesophageal (PE) segment is usually limited to manometry or barium swallow. Manofluorography is a technique which allows simultaneous analysis of both manometry and videofluoroscopy of deglutition on a single video screen. Using manofluorography, the physician can see the cause of the manometric pressure waves. Understanding of the PE segment pathophysiology has been limited. Dysfunction is usually labeled as cricopharyngeal achalasia or incoordination, which may lead to cricopharyngeal myotomy. However, this approach has yielded poor results. This study demonstrates that laryngeal elevation and timing of the swallowing reflex also play an important role in controlling pressures and function in the PE segment during deglutition. These factors must also be examined in assessment of cricopharyngeal dysfunction to guide appropriate management.
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PMID:Function in the pharyngoesophageal segment. 356 Nov 35

Twenty patients with cervical esophageal dysphagia were treated by cricopharyngeal myotomy. Of these 20 patients, ten had pharyngoesophageal diverticula, four had a hypertensive upper esophageal sphincter (UES), four had bulbar palsy, and two has miscellaneous forms of cricopharyngeal dysfunction. Preoperative esophageal manometric examination revealed mean UES pressures of 37.2 mmHg +/- 4.8 SEM in patients with diverticula-markedly lower (p = 0.01) than in normal patients (55.9 mmHg +/- 5.0 SEM). In patients with hypertensive UES the mean pressure was 166.2 mmHg +/- 13.4, significantly higher (p less than 0.001) than normal. Incoordination of the deglutitive response of the UES characterised by premature relaxation and contraction was present in all patients with diverticula and in one other patient. Another patient exhibited incomplete sphincteric relaxation (achalasia). A 4-5 cm myotomy of the cricopharyngeus muscle and adjacent esophageal muscle was performed in all patients. On the patients with diverticula two also had diverticulectomy. No patient with bulbar palsy was benefited. All other patients were relieved of dysphagia by the operation, with the exception of one patient with a diverticulum. A subsequent diverticulectomy was required in this patient. Postoperative manometric examination revealed an average decrease in UES pressure of 63% and an average decreased in length of the high pressure zone of 1.4 cm.
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PMID:Cervical esophageal dysphagia: indications for and results of cricopharyngeal myotomy. 679 98

A 14-year-old boy presented with regurgitation, malnutrition, and chronic lung insufficiency with a history of successful repair of esophageal atresia and tracheoesophageal fistula in the newborn period. Barium swallow and manometry results showed achalasia. Hellar operation with antireflux procedure resulted in complete symptomatic relief. Histology and immunohistochemistry including PGP9.5, MAP5, cKit, and nNOS of myotomy specimen showed intact innervation. Although esophageal dysmotility after esophageal atresia repair usually is caused by gastroesophageal reflux and incoordination of peristalsis, the possibility of achalasia should also be considered, because a casual relationship between esophageal atresia and achalasia may exist.
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PMID:Esophageal atresia and achalasialike esophageal dysmotility. 1548 12

We report a patient who developed subacute facial-predominant numbness and anhidrosis, oral incoordination, and esophageal achalasia with resultant cachexia. Great auricular nerve biopsy showed extensive epineurial perivascular inflammatory infiltrates. Sensation, sweating, and swallowing improved with pulse intravenous methylprednisolone given over 5 years. We suggest that the patient's deficits, including achalasia, were due to an immune-mediated sensory and autonomic neuropathy and that, in such cases, pathologic studies of the great auricular nerve may be diagnostically informative.
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PMID:Immune trigeminal sensory neuropathy with esophageal achalasia: improvement with long-term immunotherapy. 2125 98