1/410. Malignant pseudoachalasia. During the course of a laparoscopic Heller myotomy, a patient thought to have primary achalasia was found instead to have an adenocarcinoma of the gastroesophageal junction. Aspects of this patient's clinical course, which are exemplary of malignant pseudoachalasia, are discussed, as are ways in which this not uncommon error in diagnosis can be avoided. ( info) |
2/410. Synovial sarcoma of the esophagus simulating achalasia. Synovial sarcoma is a rare malignancy occurring mainly in the extremities. Only seven cases have been described arising in the esophagus. All of them presented as a polypoid mass involving the upper third of the esophagus. A case of infiltrating synovial esophageal sarcoma simulating achalasia in a 63-year-old woman is reported. According to the literature, the location and the clinical pattern of this tumor are exceptional. The clinical features, pathologic findings, differential diagnosis, and management of this condition are discussed. ( info) |
3/410. Use of botulinum toxin as a diagnostic/therapeutic trial to help clarify an indication for definitive therapy in patients with achalasia. OBJECTIVE: Intrasphincteric injection of botulinum toxin is useful in achalasia but is limited by its short term efficacy. The aim of this study was to evaluate the use of botulinum toxin in selected patients in whom its short duration of action may be useful in guiding therapy before considering more invasive procedures that might not be indicated. methods: Over a 3 yr period, botulinum toxin was injected into the lower esophageal sphincter in patients with: 1) symptoms consistent with achalasia but insufficient manometric criteria to make the diagnosis; 2) complex clinical situations in which there were factors in addition to achalasia that may be contributing to the patient's symptoms and that required different treatment; 3) atypical manifestations of achalasia; 4) advanced achalasia in which it was unclear that sphincter-directed therapy (vs esophagectomy) would be of benefit; and 5) after Heller myotomy. Clinical response was assessed mostly by symptom improvement, but in some patients follow-up barium swallow or radioscintigraphy was available. RESULTS: Eleven patients were identified. Ten had complete symptomatic response to the injection. Two patients have undergone subsequent successful pneumatic dilation, one a successful laparoscopic myotomy, and another currently scheduled for surgical myotomy. The only patient without response had advanced achalasia requiring esophagectomy. CONCLUSIONS: Intrasphincteric injection of botulinum toxin into the lower esophageal sphincter is a useful and safe means of guiding therapy in those patients with a variant of achalasia, atypical achalasia, or complex achalasia in which it is unclear that more invasive procedures such as pneumatic dilation or surgical myotomy are the correct therapy. ( info) |
| 29 cases of double pylorus have been reported so far. It is thought that in 85% of the cases it has been due to a fistulous gastro-duodenal ulcer and the remaining 15% would be of a congenital origin. In the case we have reported the double pylorus is believed to be a congenital anomaly associated with a mega-esophagus of similar etiology. ( info) |
5/410. Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome). We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder. ( info) |
| leiomyosarcoma constitutes approximately 0.5% of the malignant neoplasias of the esophagus and its association with megaesophagus has not been described. We report on a case of a woman with dysphagia that was slowly progressive from the age of 19 due to chagasic megaesophagus. The woman was subjected to cardiomyotomy at the age of 49. She presented a rapid worsening of the dysphagia due to leiomyosarcoma at the age of 61, and was subjected to subtotal esophagectomy with cervical esophagogastroplasty. She developed pulmonary and hepatic metastases 14 months after surgery and died six months later. ( info) |
7/410. Achalasia and Down's syndrome: coincidental association or something else? Achalasia is an uncommon esophageal motor disorder. It has been associated with other diseases such as Parkinson's disease and depressive disorders, but coincidence of achalasia and Down's syndrome is rare. We report five cases of achalasia in Down's syndrome patients seen in our institution. Two of the five cases were diagnosed at pediatric age. Respiratory symptoms and growth retardation were the main clinical manifestations in pediatric patients, whereas adult patients mainly complained of dysphagia. Taking into account the prevalence rate of both disorders, the association seems higher than that expected by chance. The possible etiopathogenic implications of this association, as well as its clinical relevance, are discussed. ( info) |
8/410. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus. Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disorder characterized by megacystis and hypoperistalsis of the gastrointestinal tract. About 80 cases have been reported, predominantly in females. We present a female newborn with typical features of the syndrome associated with megaesophagus. ( info) |
9/410. Botulinum toxin: a case study. A variety of therapeutic options exist for the treatment of achalasia. This case study explores these options and follows an individual's experiences as he undergoes these treatments from a barium swallow to botulinum toxin injection. ( info) |
10/410. Primary small cell carcinoma of the esophagus with achalasia in a patient in whom pro-gastrin-releasing peptide and neuron-specific enolase levels reflected the clinical course during chemotherapy. We report a case of primary small cell carcinoma of the esophagus in a patient with achalasia in whom pro-gastrin-releasing peptide (ProGRP) and neuron-specific enolase (NSE) levels were measured. Although chemotherapy markedly reduced the size of the primary tumor and lymph node metastases, it had no effect on liver metastases. The tumor marker levels decreased after chemotherapy as the primary tumor and lymph node metastases decreased in size, and they increased as the liver metastases enlarged. However, there was a discrepancy between the levels of ProGRP and NSE during the patient's clinical course. We demonstrate the usefulness of measuring ProGRP and NSE levels to assess the effect of chemotherapy in patients with esophageal small cell carcinoma. ( info) |