Cases reported "Deglutition Disorders"

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1/48. Achalasia: diagnosis and management.

    Achalasia is a primary esophageal motor disorder of unknown cause that produces complaints of dysphagia, regurgitation, and chest pain. The current treatments for achalasia involve the reduction of lower esophageal sphincter (LES) pressure, resulting in improved esophageal emptying. calcium channel blockers and nitrates, once used as an initial treatment strategy for early achalasia, are now used only in patients who are not candidates for pneumatic dilation or surgery, and in patients who do not respond to botulinum toxin injections. Because of the more rigid balloons, the current pneumatic dilators are more effective than the older, more compliant balloons. The graded approach to pneumatic dilation, using the Rigiflex (boston Scientific Corp, boston, MA) balloons (3.0, 3.5, and 4.0 cm) is now the most commonly used nonsurgical means of treating patients with achalasia, resulting in symptom improvement in up to 90% of patients. Surgical myotomy, once plagued by high morbidity and long hospital stay, can now be performed laparoscopically, with similar efficacy to the open surgical approach (94% versus 84%, respectively), reduced morbidity, and reduced hospitalization time. Because of the advances in both balloon dilation and laparoscopic myotomy, most patients with achalasia can now choose between these two equally efficacious treatment options. Botulinum toxin injection of the LES should be reserved for patients who can not undergo balloon dilation and are not surgical candidates.
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2/48. Manometric study in kearns-sayre syndrome.

    Although swallowing difficulties have been described in patients with kearns-sayre syndrome (KSS), the spectrum of manometric characteristics of dysphagia is not yet well known. Moreover, it is conceivable that a combination of various degrees of swallowing difficulties with different patterns in manometric studies exist, each playing a major role in the prognosis, natural history, and quality of life of KSS patients. An 18-year-old girl diagnosed at the age of 5 years with KSS (muscle biopsy) was admitted to our department with an upper respiratory tract infection and dysphagia. Clinical examination revealed growth retardation, external ophthalmoplegia, pigmentary retinopathy, impaired hearing, and ataxia. An electrocardiogram revealed cardiac conduction defects (long Q-T), and brain magnetic resonance imaging showed abnormalities in the cerebellar hemispheres. A manometric and motility study for dysphagia was conducted and the pharynx and upper esophageal sphincter (UES) resting pressures were similar to control group values, but the swallowing peak contraction pressure of the pharynx and the closing pressure of the UES were very low and could not promote effective peristaltic waves. relaxation and coordination of the UES were not affected although pharyngeal and upper esophagus peristaltic waves proved to be very low and, consequently, were practically ineffective. The patient was started on treatment comprising a diet rich in potassium, magnesium, and calcium, and oral administration of vitamin d and co-enzyme Q10 100 mg daily; she was discharged 6 days later with apparent clinical improvement.
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3/48. Case report: botulinum toxin in hypertensive lower esophageal sphincter: a manometric case study.

    The hypertensive lower esophageal sphincter (HLES) is a disorder of esophageal motility associated with dysphagia and chest pain. Although well characterized manometrically, opinions differ greatly with regard to its pathophysiology and its management. Therapy is limited to a few medications, esophageal dilatation, and even surgery, although none of these options are consistently successful. In this case report we describe a 54-year-old woman with HLES and dysphagia who was successfully treated with botulinum toxin injection of the lower esophageal sphincter (LES). Esophageal manometry after botulinum toxin therapy revealed normalization of LES pressures. Three months after therapy, symptoms returned and repeat esophageal manometry demonstrated the return of elevated LES pressures. This report is the only published case of botulinum toxin injection into the LES with both pre- and post-treatment esophageal manometric data. This case report is evidence that LES dysfunction produces symptoms in patients with HLES, and that reduction in LES pressure improves symptoms. Current pathophysiologic hypotheses for HLES-associated dysphagia and its treatment are briefly reviewed in this report.
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4/48. Abnormal elevation of resting pressure at the upper esophageal sphincter of Parkinson's disease patients.

    We investigated the oral and pharyngeal swallowing function in seven Parkinson's disease (PD) patients, using videomanofluorometry, which is videofluorographic and manometric evaluation conducted simultaneously. Abnormal elevations of resting pressure were found at the upper esophageal sphincter (UES) in three of the seven cases, when they were asked to hold a bolus in the mouth and initiate swallowing. One of these three cases showed an abnormal elevation of resting pressure, intermingled with a normal pressure pattern. Since the UES showed complete relaxation in these three cases, it is inappropriate to suppose that irreversible pathophysiological changes at the level of peripheral nerves had occurred. Our results suggested that altered resting pressure resulted from dysfunction at a more central level, such as a lack of dopaminergic stimulation at the supramedullary level causing skeletal muscle rigidity. Since a tonic abnormality of the UES cannot be measured by only videofluorography, both videofluorographic and manometric evaluation will be necessary to assess the pharyngeal phase of swallowing in PD patients.
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5/48. Pharyngoesophageal pressure in patients with swallowing disorders.

    We developed and tested a pressure transducer to correctly determine swallowing pressure at different sites in the pharynx. In normal individuals three pressure peaks were obtained in the mesopharynx, hypopharynx and cervical esophagus, respectively. A patient with central dysphagia demonstrated markedly low mesopharyngeal and hypopharyngeal swallowing pressure. One tongue cancer patient who had undergone right hemiglossectomy, including partial resection of the root of the tongue and bilateral superior neck dissection, had markedly low swallowing pressure in the mesopharynx and vallecula area. Another supraglottic cancer patient treated by supraglottic horizontal partial laryngectomy showed extremely low swallowing pressure in the supraglottic area. Based on our findings, we suggest that measurements using a pressure transducer such as the one described here should be used in combination with radiographic study to diagnose swallowing anomalies correctly. Data obtained with the pressure transducer will allow the clinician to identify the site responsible for postoperative dysphagia as well as its severity, and facilitate planning of reconstructive surgery when required.
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6/48. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene.

    A family with multiple gastrointestinal stromal tumors (GISTs), a new type of germline mutation of KIT gene, and dysphagia is reported. The mutation was observed at Asp-820 in tyrosine kinase (TK) II domain. Mutations in TK II domain have been found in mast cell and germ cell tumors but not in GISTs, and the present family members are the first reported cases of GISTs with TK II domain mutations, including sporadic GISTs. Because interleukin 3-dependent Ba/F3 murine lymphoid cells transfected with the mutant KIT complementary dna grew autonomously without any growth factors and formed tumors in nude mice, the mutation was considered to be gain-of-function type. family members with the germline KIT mutation reported dysphagia, but those without the mutation did not. The mechanism of dysphagia was examined with gastrointestinal fiberscopy, endoscopic ultrasonography, and esophageal manometry. No mechanical obstruction was found, and the esophagus was not remarkably dilated. In the family members with dysphagia, endoscopic ultrasonography at the esophagocardiac junction showed a thickened hyperechoic layer between the circular and longitudinal muscle layers, suggesting hyperplasia of interstitial cells of cajal at the myenteric plexus layer. manometry showed low resting lower esophageal sphincter pressure and abnormal simultaneous contractions of the esophagus without normal peristalsis. These findings indicate that the dysphagia of the present family is different from typical achalasia. This is the first report of familial dysphagia caused by germline gain-of-function mutation of the KIT gene at the TK II domain.
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7/48. Two cases of steakhouse syndrome associated with nutcracker esophagus.

    The most common type of esophageal food-related foreign body is the meat bolus, which is frequently associated with underlying esophageal stenosis. Herein, we report two cases of meat bolus impaction associated with nutcracker esophagus. In the first case, the 63-year-old male patient had chest discomfort and swallowing difficulty after ingestion of butcher's meat. In the second case, the 55-year-old male patient had complained of swallowing difficulty after ingestion of chicken. In both cases, no pathologic findings were observed endoscopically after removal of the esophageal meat bolus. We performed esophageal manometry, which showed very high amplitudes of esophageal pressure in the mid- and distal esophagus. These findings were consistent with nutcracker esophagus. These cases show that esophageal motility disorder may be the cause of esophageal foreign body impaction, and esophageal manometry should be performed for evaluation of the cause of foreign body, especially in an endoscopically normal patient.
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8/48. Manometric characteristics of cervical dysphagia in a patient with the kearns-sayre syndrome.

    The manometric findings of deglutitive pharyngoesophageal function in a patient with the kearns-sayre syndrome and cervical dysphagia are described. These findings indicate that striated muscles of the pharynx, upper esophageal sphincter (UES), and proximal esophagus are involved. Near absence of pharyngeal peristalsis, abnormally low UES resting pressure, and absence of proximal esophageal peristalsis characterize the manometric findings in this patient. It is conceivable that in mild cases, a combination of various degrees of severity of the above findings may exist.
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9/48. Injection of botulinum toxin A to the upper esophageal sphincter for oropharyngeal dysphagia in two patients with inclusion body myositis.

    Inclusion body myositis (IBM) is a progressive degenerative skeletal muscle disease leading to weakening and atrophy of both proximal and distal muscles. Dysphagia is reported in up to 86% of IBM patients. Surgical cricopharyngeal myotomy may be effective for cricopharyngeal dysphagia and there is one published report that botulinum toxin A, injected into the cricopharyngeus muscle using a hypopharyngoscope under general anesthesia, relieved IBM-associated dysphagia. This report presents the first documentation of botulinum toxin A injection into the upper esophageal sphincter using a flexible esophagogastroduodenoscope under conscious sedation, to reduce upper esophageal sphincter pressure and successfully alleviate oropharyngeal dysphagia in two IBM patients.
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10/48. Spontaneous pneumomediastinum presenting with retropharyngeal emphysema.

    Spontaneous pneumomediastinum is a rare condition that may follow increases in intrathoracic pressure. patients may present with symptoms isolated to the head and neck. Although this condition is usually benign, there are other potentially fatal conditions, which often present similarly and clinically are difficult to differentiate from this entity. Despite this condition being described in the thoracic and medical literature, very little is found in the otolaryngological literature. This article reports 4 cases in which presenting symptoms were limited to the head and neck and otolaryngologists were the initial consultants. This highlights the need for otolaryngologists to be aware of this clinical entity.
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