疑难病杂志Issue(6)：611-614,4.DOI:10.3969/j.issn.1671-6450.2014.06.021
Von Hippel-Lindau 综合征4例影像学表现和遗传史回顾及文献复习
Imaging findings, genetic history review and literature review of Von Hippel-Lindau syndrome:4 cases report
赵洪全 1盖青竹 2牛庆亮 3陈玉飞 1赵孟1
作者信息
- 1. 264006 烟台经济技术开发区医院影像科
- 2. 烟台市烟台山医院影像科
- 3. 潍坊市中医院影像科
- 折叠
摘要
Abstract
Objective To explore and summarization Von Hippel-Lindau ( VHL) syndrome imaging findings and the diagnostic method of the syndrome .Methods Retrospective analysis of four cases of VHL syndrome imaging data , family his-tory and other clinical data , combined review of the relevant literature , discuss the diagnosis of rare genetic diseases .Results 4 patients in this group , 1 male and 3 females, aged 28 to 41 years, mean 34.3 years, imaging of the pancreas showed multiple cystic masses and multiple cystic kidneys of the tumor .All patients have brain tumors surgical history and a family history of VHL, in line with the syndrome diagnostic criteria proposed by Maher et al .Conclusion VHL gene mutation type lead to different phenotypes , complex and varied clinical manifestations , to recognize the imaging features of VHL syndrome , combining with the clinical history can obviously improve the diagnosis of the disease .关键词
VHL综合征/遗传机制/良恶性肿瘤/影像诊断Key words
Von Hippel-Lindau syndrome/Genetic mechanisms/Benign and malignant tumor/Imaging diagnosis引用本文复制引用
赵洪全,盖青竹,牛庆亮,陈玉飞,赵孟..Von Hippel-Lindau 综合征4例影像学表现和遗传史回顾及文献复习[J].疑难病杂志,2014,(6):611-614,4.
