A 60-year-old Japanese man was diagnosed as having hypouricemia at an annual health check-up. The routine laboratory data was not remarkable except that the patient's hypouricemia and plasma levels of xanthine and hypoxanthine were much higher than those of normal subjects. Furthermore, the patient's daily urinary excretion of xanthine and hypoxanthine was markedly increased compared with reference values. The xanthine dehyrogenase activity of the duodenal mucosa was below the limits of detection. Nevertheless, allopurinol was metabolized to oxypurinol in vivo. Based on these findings, a subtype of classical xanthinuria (type I) was diagnosed. The xanthine dehyrogenase protein was detected by Western blotting analysis. Sequencing of the cDNA of the xanthine dehyrogenase obtained from the duodenal mucosa revealed that a point mutation of C to T had occurred in nucleotide 445. This changed codon 149 from CGC (Arg) to TGC (Cys), a finding that has not been previously reported in patients with classical xanthinuria type I.
We describe a case of malignant endocrine tumor of the pancreas associated with von Recklinghausen's disease. A 66-year-old woman with familial von Recklinghausen's disease was admitted to our hospital with weight loss and lower abdominal pain. Endoscopy revealed a submucosal tumor in the second part of the duodenum. Contrast-enhanced computed tomography showed a heterogeneous low-density tumor, measuring 20 x 15 mm, in the head of the pancreas, and metastatic lymphadenopathy. Angiography showed faint tumor staining without encasement or apparent increase in vascularity. Pancreatoduodenectomy was performed. Macroscopically, there was a solid tumor, measuring 20 x 18 mm, in the head of the pancreas. Histologically, a malignant endocrine tumor was shown, with direct invasion to the duodenum, and lymph node metastases. This is the thirteenth case of pancreatic malignant tumor and the fourth case of pancreatic endocrine tumor associated with von Recklinghausen's disease reported in the world literature.
A 64-year-old woman was referred for an examination of the upper gastrointestinal (GI) tract. Endoscopy showed an elevated lesion in the duodenum with central depression and multiple white granules. Biopsy specimens revealed lymphoid follicles composed predominantly of centrocytes with scattered centroblasts. The tumor cells were positive for bcl-2. The patient was diagnosed with follicular lymphoma and underwent antibiotic therapy for Helicobacter pylori (H. pylori) infection. The regression of the lesion was obvious. After 5.5 years of follow-up, there has been no evidence of recurrence. This case suggests that H. pylori eradication therapy is effective for treating follicular lymphoma in the duodenum.
We describe a rare case of duodenal adenoma of a gastric phenotype in the second portion of the duodenum. An 85-yearold Japanese man with a history of left nephrectomy was admitted to our hospital with a cerebral transient ischemia attack. Screening upper gastrointestinal endoscopy revealed a subpedunculated polyp with a reddish, erosive, glossy appearance, and a granular surface just above the papilla of Vater in the second portion of the duodenum, which on biopsy was diagnosed as a hyperplastic polyp. Hypotonic duodenography revealed a subpedunculated polyp with irregular granular surface, measuring approximately 20 mm in size, in the second portion of the duodenum. Endoscopic total resection for biopsy was performed. The histopathological examination of the polypectomied specimens revealed an adenoma with moderate dysplasia mimicking gastric foveolar epithelium or hyperplastic polyp accompanied by abundant mucin production. Immunohistochemistry revealed a complete gastric phenotype, suggesting it had probably arisen from heterotopic gastric mucosa. The present case is the eleventh case of duodenal neoplasia arising from heterotopic gastric mucosa and the sixth case of neoplasia with gastric phenotype found in the second portion of the duodenum reported in the world.
We describe here a rare case of nodule‐aggregating lesion of the terminal ileum detected by colonoscopy. An 82‐year‐old Japanese woman was admitted to our hospital with diarrhea. Colonoscopy revealed a flat elevated tumor with conglomerated nodular surface involving the entire circumference of the terminal ileum, suggesting a nodule‐aggregating lesion. Magnifying the colonoscopic view showed the branch‐like or gyrus‐like pits. On biopsy, the tumor was diagnosed as a tubulovillous adenoma. Retrograde ileogram using a colonoscope revealed an elevated tumor with nodular irregularity, measuring 5 cm in length. Ileocecal resection was performed. Macroscopically, the tumor in the terminal ileum, 8 cm distant from the ileocecal valve, showed a nodule‐aggregating lesion, measuring 44 × 60 × 6 mm in size. Histologically, the tumor showed a focal carcinoma in tubulovillous adenoma. To our knowledge, this is the fifth case of early cancer of the ileum in Japan, and the first case of nodule‐aggregating lesion of the ileum detected by colonoscopy in the world.
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