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1/27. Esophageal dysmotility in brothers with an FG-like syndrome.

    We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.
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2/27. Dysphagia in a patient with lateral medullary syndrome: insight into the central control of swallowing.

    BACKGROUND & AIMS: Central control of swallowing is regulated by a central pattern generator (CPG) positioned dorsally in the solitary tract nucleus and neighboring medullary reticular formation. The CPG serially activates the cranial nerve motor neurons, including the nucleus ambiguus and vagal dorsal motor nucleus, which then innervate the muscles of deglutition. This case provides insight into the central control of swallowing. methods: A 65-year-old man with a right superior lateral medullary syndrome presented with a constellation of symptoms, including dysphagia. The swallow was characterized using videofluoroscopy and esophageal motility and the results were compared with magnetic resonance imaging (MRI) findings. RESULTS: Videofluoroscopy showed intact lingual propulsion and volitional movements of the larynx. Distal pharyngeal peristalsis was absent, and the bolus did not pass the upper esophageal sphincter. manometry showed proximal pharyngeal contraction and normal peristaltic activity in the lower esophagus (smooth muscle), but motor activity of the upper esophageal sphincter and proximal esophagus (striated muscle) was absent. MRI showed a lesion of the dorsal medulla. CONCLUSIONS: These findings are compatible with a specific lesion of the connections from a programming CPG in the solitary tract nucleus to nucleus ambiguus neurons, which supply the distal pharynx, upper esophageal sphincter, and proximal esophagus. There is functional preservation of the CPG control center in the solitary tract nucleus and of the vagal dorsal motor nucleus neurons innervating the smooth muscle esophagus.
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3/27. Importance of oesophageal manometry in the diagnosis of oesophageal motility disorders. Report of two cases.

    Two cases of dysphagia, in which radiology led to an incorrect diagnosis, are described. In case I the X-ray barium swallow showed only minor oesophageal dilatation with no apparent delay in emptying or abnormality of the cardias, yet achalasia was diagnosed by oesophageal manometry. In case 2, although the barium swallow strongly suggested achalasia, manometry showed a less severe motility disorder characterized by lower oesophageal sphincter dysfunction and normal peristalsis. Correct diagnosis obtained with manometry was supported by the different clinical course of the two patients during a 2 year follow up. Oesophageal manometry should always be performed when radiology and/or the patient's history suggest the presence of a motility disorder of the oesophagus since a correct diagnosis is essential for appropriate treatment and follow-up.
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4/27. Heterochromia of the irides and a motility disorder of the oesophagus: a coincidence or a defect during embryogenesis?

    We present an infant with heterochromia of the irides and a motility disorder of the oesophagus. The association between Hirschsprung's disease and heterochromia of the irides has been reported in the past and has been explained by the common origin during embryogenesis of the parasympathetic ganglion cells and the stroma of the iris.
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5/27. Epiphrenic diverticulum with abnormal manometry: a case report.

    A 50-year-old man was admitted to our hospital with the chief complaints of vomiting and nocturnal cough for one year. His complaints were progressive and had worsened within the last two months. Chest X-ray revealed a right-sided paracardiac opacity. Computed tomography of the thorax showed a supradiaphragmatic mass lesion containing air and solid components. barium esophagogram revealed a giant distal esophageal diverticulum and hiatal hernia. Stationary manometric examination of the esophagus showed non-specific esophageal motility disorder. The patient underwent a successful abdominal approach diverticulectomy operation and the postoperative course was uncomplicated. There is a high prevalence of esophageal motility abnormalities in patients with epiphrenic diverticula, though they are very rare, and, as in this case, may be difficult to classify.
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6/27. High-dose ibuprofen therapy associated with esophageal ulceration after pneumonectomy in a patient with cystic fibrosis: a case report.

    BACKGROUND: lung disease in patients with cystic fibrosis is thought to develop as a result of airway inflammation, infection, and obstruction. Pulmonary therapies for cystic fibrosis that reduce airway inflammation include corticosteroids, rhDNase, antibiotics, and high-dose ibuprofen. Despite evidence that high-dose ibuprofen slows the progression of lung disease in patients with cystic fibrosis, many clinicians have chosen not to use this therapy because of concerns regarding potential side effects, especially gastrointestinal bleeding. However, studies have shown a low incidence of gastrointestinal ulceration and bleeding in patients with cystic fibrosis who have been treated with high-dose ibuprofen. CASE PRESENTATION: The described case illustrates a life-threatening upper gastrointestinal bleed that may have resulted from high-dose ibuprofen therapy in a patient with CF who had undergone a pneumonectomy. Mediastinal shift post-pneumonectomy distorted the patient's esophageal anatomy and may have caused decreased esophageal motility, which led to prolonged contact of the ibuprofen with the esophagus. The concentrated effect of the ibuprofen, as well as its systemic effects, probably contributed to the occurrence of the bleed in this patient. CONCLUSIONS: This report demonstrates that gastrointestinal tract anatomical abnormalities or dysmotility may be contraindications for therapy with high-dose ibuprofen in patients with cystic fibrosis.
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7/27. Nonspecific esophageal motor disorder associated with thickened muscularis propria of the esophagus.

    A case of a nonspecific esophageal motor disorder associated with muscular hypertrophy, revealed by endoscopic ultrasonography, is reported. A 41-year-old man was admitted to the hospital with chest pain and dysphagia. Manometric studies of the esophagus disclosed prolonged duration of propulsive waves with normal amplitude. Endoscopic ultrasonography showed downward thickening of the esophageal muscular layer; the maximum thickness was found at the lower esophageal sphincter. Thickening of the esophageal wall of unknown etiology has been reported as a diffuse esophageal muscular hypertrophy. Previous cases of diffuse esophageal muscular hypertrophy were diagnosed by autopsy. Some cases involved dysphagia and/or chest pain. Therefore, some of the reported cases of nonspecific esophageal motor disorders may have been associated with diffuse esophageal muscular hypertrophy. association of the two categories was shown by endoscopic ultrasonography for the first time in the present case. Endoscopic ultrasonography is a useful tool for the diagnosis of the thickening of the muscular layer of the esophagus.
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8/27. Esophageal dysmotility as a serendipitous observation on ventilation-perfusion imaging of the lungs.

    Tc-99m DTPA aerosol is often swallowed during inhalation for lung ventilation scans. The authors evaluated a 16-year-old girl with a known history of mixed collagen disorder (positive lupus anticoagulants) for symptoms of cough and acute shortness of breath. Tc-99m DTPA accumulated in the distal esophagus during aerosol inhalation and remained there at the end of the perfusion study, a period of approximately 1 hour. This serendipitous observation antedates clinical signs and symptoms of dysphagia.
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9/27. vocal cord dysfunction concurrent with a nutcracker esophagus and the role of gastroesophageal reflux disease.

    BACKGROUND: Psychological disorders were originally thought to be the sole cause of vocal cord dysfunction (VCD). Subsequently, other organic diseases, including structural laryngeal abnormalities, have also been reported to be associated with VCD. OBJECTIVES: To describe the first patient with VCD concurrent with a nutcracker esophagus and to establish the association between VCD and gastroesophageal reflux disease (GERD) by using the Bernstein test. methods: Symptom assessments, neuropsychiatric evaluations, fiberoptic laryngoscopy, pulmonary function tests, allergic skin prick tests, radiographs of the chest and sinuses, esophageal manometry (including 24-hour ambulatory esophageal ph monitoring), and the Bernstein test were performed. RESULTS: A 36-year-old woman had dyspnea, hoarseness, chest pain, and wheezes without relief for a decade. Neuropsychiatric evaluations disclosed mild depression. Fiberoptic laryngoscopy showed posterior laryngitis and paradoxical vocal cord adduction with audible inspiratory stridor. Pulmonary function tests showed attenuation of the inspiratory limb with notching in both flow-volume loops and a mid-vital capacity expiratory to inspiratory flow ratio of 4. All the symptoms except chest pain were improved dramatically by speech therapy and empirical treatment for GERD. Esophageal manometry revealed a nutcracker esophagus; 24-hour ambulatory esophageal ph monitoring demonstrated multiple short reflux episodes. The Bernstein test was conducted, and all the manifestations were reproduced with 0.1 N hydrochloric acid but not with isotonic sodium chloride infusion. CONCLUSIONS: This is the first human case report confirming that GERD can trigger an acute attack of VCD and may induce chest pain as a nutcracker esophagus in patients with VCD. It strengthens this association and expands our knowledge of diverse manifestations of this clinical entity.
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ranking = 3.5
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10/27. Swallow syncope in association with Schatzki ring and hypertensive esophageal peristalsis: report of three cases and review of the literature.

    syncope caused by swallowing-induced cardiac arrhythmia is an uncommon condition. The recognition of this syndrome is paramount but often difficult. We report three cases of deglutition syncope evaluated at our institution over a three-year period. Two patients had distal esophageal (Schatzki) ring and two had hypertensive peristaltic waves (commonly referred to as "nutcracker esophagus"), neither of which had been described before in association with deglutition syncope. Two patients underwent placement of a demand cardiac pacemaker with subsequent resolution of their syncopal symptoms, while the third patient refused any further intervention. Swallow syncope usually follows a benign course from a cardiac standpoint. Placement of a demand cardiac pacemaker can prevent recurrence of presyncopal and syncopal attacks and their untoward consequences.
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