Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
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Pol. Merkur. Lekarski · Aug 2017
Editorial Review[Gastroenterological manifestations of von Hippel-Lindau disease].
Von Hippel-Lindau disease is rare autosomal dominant disorder that results from mutation of VHL gene. Typical manifestations of this syndrome include haemangioblastomas of retina, cerebellum and spinal cord, endolymphatic sac tumors, clear cell cancer and kidney cysts, pheochromocytoma, pancreatic cysts and neuroendocrine tumors. ⋯ The pancreas in VHL disease is not only site of benign lesions (cysts, serous systic adenomas) but also of potentially malignant (neuroendocrine) and malignant tumors(metastases). The gastroenterological manifestations can be the first symptoms of von Hippel-Lindau disease.