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1/65. Autonomic failure and proximal skeletal myopathy in a patient with primary Sjogren syndrome.

    Autonomic failure and proximal skeletal myopathy are rare features of the Sjogren syndrome (SS). We describe a 51-year-old woman with primary SS who had development of esophageal dysmotility, urinary retention, severe orthostatism, and skeletal myopathy during a 3-month period after the diagnosis of SS. Her symptoms and signs responded well to corticosteroid therapy. Although dysfunction of the peripheral nervous system has a prevalence rate of 20% in patients with SS, most commonly the nerve dysfunction is a sensory deficit, and autonomic neuropathy is less frequent. Autonomic neuropathy due to SS may be underreported. The cause of our patient's myopathy remains undetermined. We speculate that the myopathy was due to either a form of polymyositis or an immune-mediated neuropathy with muscle involvement. ( info)

2/65. Esophageal aperistalsis following fundoplication in a patient with trisomy 21.

    Gastrointestinal abnormalities are frequent in patients with down syndrome (DS), gastroesophageal reflux (GER) being prominent among them. A 10-year-old boy with DS presented with progressive daily vomiting and an upper gastrointestinal study documenting reflux. A laparoscopic Nissen fundoplication was performed uneventfully. Postoperative inability to take solids was noted and a contrast study showed a tight gastroesophageal junction and poor peristalsis. Persistent symptoms were not alleviated by esophageal dilatation, despite a relaxing lower esophageal sphincter. Esophageal manometry documented complete esophageal aperistalsis. A percutaneous endoscopic gastrostomy was placed and the patient required long-term tube feeds. Esophageal aperistalsis is a rare condition in DS, likely superimposed on GER. fundoplication may adversely affect the already abnormal esophageal motility in these children. Esophageal manometry preoperatively will identify motility disorders and assist in selecting the best management for these patients. ( info)

3/65. Dysphagia in oesophageal intramural pseudo-diverticulosis: fibrosis, dysmotility or web?

    We describe two cases of oesophageal intramural pseudo-diverticulosis associated with a cervical oesophageal web presenting as intermittent dysphagia. In both cases, disruption of the web endoscopically resulted in lasting relief from symptoms. This observation, together with a review of the literature written during the past 39 years, suggests that oesophageal web formation may be under-reported in this condition and may be more important than either dysmotility or submucosal fibrosis and stricturing in the aetiology of the dysphagia seen in these patients. All patients with a radiological diagnosis of oesophageal intramural pseudo-diverticulosis should have an endoscopic examination which may be both diagnostic and potentially therapeutic. ( info)

4/65. 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. ( info)

5/65. Shaping oral feeding in a gastronomy tube-dependent child in natural settings.

    A 3-year-old medically fragile girl who refused to eat after prolonged and frequent hospitalizations was started on a feeding program in the home and school settings. She exhibited food aversions and received all nourishment via a gastronomy tube. Preevaluation observations of her feeding behavior revealed that she refused all presented drinks and foods. Treatment was two-fold. First, food acceptance was followed by social praise and access to preferred toy play, and second, food refusal and disruptive behaviors were ignored. gagging, vomiting, and crying occurred periodically during initial feedings. In addition, there were medical complications during the course of treatment necessitating continuous modifications of the program. Results of a multiple-phase design showed marked increases in the amount of food consumed at home, which then generalized to the school setting. ( info)

6/65. vincristine-induced dysphagia suggesting esophageal motor dysfunction: a case report.

    Transient esophageal motor dysfunction with dysphagia was observed in a 62-year-old man receiving vincristine-containing chemotherapy for non-Hodgkin's lymphoma. Neurological examinations, including muscle strength of extremities, deep tendon reflexes and cranial nerves, were normal. However, the patient complained of severe numbness in the fingertips and toes. The results of esophagogram and esophagoscopy were unremarkable. However, a significantly prolonged esophageal transit time was observed. vincristine was considered as the causative agent. Empirical vitamin and metoclopramide were prescribed for his neurological symptoms but there was no improvement. The symptoms of dysphagia subsided spontaneously 2 weeks later. However, prompt recurrence of severe dysphagia was observed again after administration of the second and third courses of treatment, which again disappeared upon discontinuation of the drug. peripheral nerves and the gastrointestinal tract are often affected by vincristine. Common gastrointestinal tract symptoms of vincristine neuropathy may be colicky abdominal pain and constipation. However, vincristine-induced esophageal motor dysfunction with dysphagia is uncommon but generally reversible. The oncologist and chemotherapist should be aware of this complication. ( info)

7/65. Two cases of severe non-specific oesophageal dysmotility showing different response to botulinum injection therapy.

    We report 2 cases where treatment of achalasia type symptoms due to severe non-specific oesophageal dysmotility have shown symptom resolution and manometric improvement to intrasphincteric botulinum injections either by itself or in combination with oesophageal dilatation. ( info)

8/65. Esophageal hypermotility associated with intramural pseudodiverticulosis. Primary esophageal disease or epiphenomena?

    Esophageal intramural pseudodiverticulosis is a very rare disease of unclear etiology. The clinical picture is characterized by progressive dysphagia. Because of its frequent association with alcohol abuse and subsequent weight loss, it must be differentiated reliably from esophageal carcinoma. The diagnosis is established by the characteristic detection of multiple intramural contrast accumulations in the barium esophagogram. Additional endoscopic and endosonographic confirmation and histological examination are required to exclude a malignant tumor. Moreover, associated diseases are almost always present and should also be diagnosed by pH-metry, cytology, and esophageal manometry. Good and long-lasting therapeutic success can be achieved by bouginage of the stenosis with concomitant treatment of the associated esophageal diseases. Based on two case reports of patients with this disease, we discuss the unusual association with esophageal hypermotility as well as the symptoms, clinical course, therapy, and pathogenesis of the disease. ( info)

9/65. 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. ( info)

10/65. Unilateral bronchiectasis and esophageal dysmotility in congenital adult tracheoesophageal fistula.

    Tracheoesophageal fistulas (TEF) in adults are most commonly neoplastic, and very rarely congenital in nature. We report a 45-year-old Hispanic male with TEF and initial presentation of minimal hemoptysis. The patient had radiographic evidence of unilateral upper lobe (RUL) bronchiectasis, massive esophageal dilatation, and dysmotility. However, there was no evidence of esophageal malignancy, achalasia, or Chagas' disease. bronchoscopy revealed a large TEF in the posterior wall of trachea, which was not visualized on esophagram or esophagoscopy. bronchoalveolar lavage (BAL) cultures grew mycobacterium avium complex (MAC). Our report illustrates that idiopathic, or congenital, TEF can be associated with esophageal dysmotility, adulthood bronchiectasis, and atypical mycobacterial superinfection. ( info)
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