Abstract

It is presented clinical observation of the patient with cystic pancreatic transformation and von Hippel-Lindau syndrome. The possibilities of molecular-genetic testing for this disease are shown. The observation illustrates the need for detailed clinical examination and molecular genetic testing for cystic pancreatic transformation in young patients without chronic pancreatitis.

Highlights

  • It is presented clinical observation of the patient with cystic pancreatic transformation and von Hippel-Lindau syndrome

  • The observation illustrates the need for detailed clinical examination and molecular genetic testing for cystic pancreatic transformation in young patients without chronic pancreatitis

  • Других родственников по отцовской линии с онкологическими заболеваниями нет

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Summary

Introduction

It is presented clinical observation of the patient with cystic pancreatic transformation and von Hippel-Lindau syndrome. При МРТ выявлено кистозно-солидное образование левого полушария мозжечка с компрессией IV желудочка и окклюзионной водянкой. Учитывая множество кист в ПЖ, почке, гемангиобластомы мозжечка, а также близкого родственника, погибшего от рака почки, был заподозрен синдром ФХЛ и рекомендовано генетическое тестирование.

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