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Case Report

Hyperferritinaemia not always a sign of iron overload

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The level of serum ferritin normally parallels the concentration of storage iron within the body. In the absence of chronic diseases elevated serum ferritin levels will lead to the diagnosis congenital haemochromatosis. However, there are genetic disorders with high ferritin levels without any sign of iron overload. A case history of a patient suffering from cataract at young age and high ferritin levels is described. Because his mother and his three sons also had cataract at young age and high ferritin levels the diagnosis hereditary hyperferritinaemia-cataract syndrome (HHCS) was made. The diagnosis was confirmed by detection of one of the mutations responsible for the syndrome. [Product Details...]

One-sided limb lymphedema in a liver transplant recipient receiving Sirolimus

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Sirolimus (SRL) is associated with many side effects including hypercholesterolemia, anaemia, impaired wound healing and abnormal liver function tests. Limb lymphedema has only been reported several times in renal transplant recipients. We present a case of lower limb lymphedema that occurred in a 59-year-old liver transplant recipient after being on a SRL regimen for seven months. Extensive diagnostic investigations could not reveal signs of infection, venous obstruction or malignancy. After discontinuation of SRL, the lymphedema gradually resolved during the next three months. The pathologic mechanism behind this phenomenon is unknown, but antiangiogenetic and antiproliferative properties of SRL have been hold responsible. Further studies are necessary to explain this rare side effect. [Product Details...]

Primary malignant melanoma of the gastrointestinal tract : a case report and review of the literature

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Although most gastrointestinal melanomas are metastatic of origin, primary malignant melanomas of the gastrointestinal tract do exist. Over the last ten years, we encountered six patients with primary malignant melanoma of the mucosal lining of the gastrointestinal tract. The literature is reviewed, the pathophysiological aspects of these tumours are described and the surgical treatment is discussed. [Product Details...]

Simultaneous occurrence of metastasizing carcinoid tumour of the gallbladder and chromophobe renal cell carcinoma in a young man

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Carcinoid tumour is an endocrine neoplasia described for the first time in 1888 and rarely observed in the extrahepatic bile ducts. Gallbladder carcinoid tumour was first reported by Joel in 1929. An endoluminal gallbladder lesion, with a bizarre echogenicity, and a mass in the upper pole of the left kidney were found in a 27 year-old man. The patient underwent a cholecystectomy with partial hepatectomy and a polar renal resection. Histological examination revealed a typical gallbladder carcinoid tumour with regional lymph nodal metastasis and a renal cell carcinoma, with morphological and histochemical features of the chromophobe type. This is a distinctive, rare variant, often described in the literature in association with other neoplastic and non-neoplastic diseases. To our knowledge, this is the first report of gallbladder carcinoid tumour with an unexpected aggressive behaviour in a very young patient, with concurrent renal cell carcinoma, chromophobe variant. [Product Details...]

Young female with pancreaticobiliary maljunction presenting with acute pancreatitis : a case report and review of the literature

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We report a case of pancreaticobiliary maljunction which presented with acute pancreatitis. Pancreaticobiliary maljunction and its complications are mostly observed in the Asian population. There are only few western publications concerning this subject. We reviewed the literature for current knowledge and opinions concerning the pathophysiology and optimal treatment, with special emphasis on the oncologic aspect of this condition. Those patients without a choledochal cyst should at least receive a prophylactic cholecystectomy. Firstly, to prevent further pancreatitis due to biliopancreatic reflux more or less promoted by gallbladder contraction, and secondly, more important, to prevent the occurrence of gallbladder cancer. Patients with choledochal cyst should receive a prophylactic cholecystectomy, and an excision of the extrahepatic bile duct, followed by hepaticojejunostomy. [Product Details...]

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