Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of reports in the literature suggest an association of neurofibromatosis Recklinghausen with intestinal tumors as carcinoids, leiomyomas and leiomyosarcomas. We present a case of a 23-year-old man with severe cutaneous manifestation of neurofibromatosis. Dysphagia was the main symptom. CT scan suggested the diagnosis of an oesophageal leiomyoma. The oesophageal muscle layers were split and the tumor was enucleated by video assisted thoracoscopic surgery (VATS). The postoperative course was uneventful. The patient was drinking liquids from day 1 and was eating a normal diet from day 3 postoperatively. He was dismissed from the hospital on the 4th postoperative day. We conclude that in patients with neurofibromatosis and oesophageal symptoms an intestinal manifestation of the disease in the oesophagus has to be considered and that VATS resection of intramural and extrinsic oesophageal leiomyomas is the treatment of choice.
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PMID:VATS resection of an oesophageal leiomyoma in a patient with neurofibromatosis Recklinghausen. 964 51

Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.
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PMID:A rare case of multiple myeloma initially presenting with pseudoachalasia. 1920 46