An 81-year-old woman presented with a chief complaint of swelling of both lower legs. She had a history of surgery for cancers of the stomach, rectum and colon. Among her immediate family members, her son had colon and rectal cancers, and her sister had ovarian cancer. After close examination the patient was diagnosed with small intestine cancer and ascending colon cancer. Gene mutation analyses did not reveal any mutations in DNA mismatch repair genes, but MSH-2 protein expression was lost only in the cancer lesions. Here, we report this rare case of eight metachronous gastrointestinal cancers thought to be HNPCC.
A 57-year-old man presented with renovascular hypertension with chronic kidney disease. 16-Multi-detector row computed tomography (MDCT) showed that the left renal artery was totally occluded and the left kidney was atrophied. The left atrophied kidney was hormonally active despite the desolation of glomerular filtration function. Percutaneous renal revascularization was successful for stenting this lesion. The renin activity in the left renal vein was decreased immediately after the procedure. He remained healthy with adequate blood pressure for three years. In this case, MDCT and renal vein renin measurement provided useful information for the decision to perform percutaneous renal revascularization.
A sufficient patency of the central vein ipsilateral to atriovenous fistula is the lifeline for hemodialysis patients. We describe a case with left dialysis fistula who underwent left-sided pectoral implantation of an implantable cardioverter defibrillator via right subclavicular venous access in order to avoid the possibility of development of left subclavian stenosis or occlusion and to achieve lower defibrillation thresholds. This approach may serve as an alternative choice in patients unsuitable for left-sided venous access and with higher defibrillation thresholds on right-positioned implantable cardioverter defibrillator.
Acute renal failure (ARF) induced by dextran or mannitol is a lethal adverse effect, and hemodialysis or plasma exchange is recommended to avoid fatal ARF. This report describes 2 cases of ARF; one caused by dextran and the other by mannitol. Both showed decreases in the blood urea nitrogen (BUN)/creatinine ratios after the administration of these reagents. They immediately recovered to the level of creatinine on admission after the administration of these reagents was stopped, without hemodialysis or plasma exchange. Decreases in the BUN/creatinine ratio might be a useful index for the diagnosis of ARF is caused by these reagents.
Plasma cell granuloma is a pseudoneoplastic lesion composed of reactive plasma cells of a polyclonal nature and must be distinguished from plasmacytoma. We report a case of plasma cell granuloma in the sigmoid colon associated with diverticulosis. In this case, the lesion consisted of multiple submucosal tumors with prominent infiltration of polyclonal plasma cells. Although the patient exhibited IgM-type monoclonal gammopathy, the expression of a monoclonal immunoglobulin was not detected in the sigmoid colonic lesion, but in the bone marrow cells. Plasma cell granuloma in the lower alimentary tract has been rarely reported. Recurrent inflammatory process with diverticular disease was considered as a pathogenesis of the pseudoneoplasm and a possible cause of monoclonal proliferation of IgM-producing lymphoid cells in this case.
Gastrointestinal (GI) tract involvement of mantle cell lymphoma (MCL) presents as a variety of forms, ranging from multiple lymphomatous polyposis (MLP) to a slight mucosal change. We report 3 cases with GI tract involvement of MCL who were followed-up by endoscopy. The present study shows three new informations. MLP of the esophagus is rare, but it was observed in two of 3 patients who were extensively involved by MCL. Endoscopic follow-up in one patient suggested that lymphoma cells of MCL had invaded the lamina propria to submucosal layer before MLP developed. Two of the 3 cases showed a favorable clinical course with single-agent rituximab therapy.
We report a patient with stiff-person syndrome and insulin-dependent diabetes mellitus with anti-glutamic acid decarboxylase (GAD) antibody, who suddenly complained of diplopia due to dysthyroid ophthalmopathy. Therapeutic efficacy of plasmapheresis and high-dose intravenous immunoglobulin was transient. After starting administration of rituximab, the patient showed obvious improvement of muscle spasms due to stiff-person syndrome and ophthalmoplegia following quick depletion of CD20-positive cells in peripheral blood. The anti-GAD and anti-thyroid antibodies decreased slowly. This drug might be a potent therapeutic option for refractory patients with stiff-person syndrome, particularly in those associated with dysthyroid ophthalmopathy.
Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) presenting with hepatic encephalopathy. Recent studies have suggested that excessive loading of carbohydrates is harmful in citrin-deficient individuals. Here we report a CTLN2 patient who showed further deterioration of encephalopathy after the employment of conventional low-protein diet therapy for chronic liver failure. Owing to the high carbohydrate content, the conventional low-protein diet therapy should be avoided in patients with hepatic encephalopathy associated with citrin deficiency. In addition, our observation may suggest that carbohydrate-restricted diet in which the content of carbohydrate is below 50% of daily energy intake can have therapeutic efficacy in CTLN2 patients.