Imaging findings, genetic history review and literature review of Von Hippel-Lindau syndrome:4 cases report
ZHAO Hongquan
GAI Qingzhu
NIU Qingliang
CHEN Yufei
ZHAO Meng
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 .
Keywords：Von Hippel-Lindau syndromeGenetic mechanismsBenign and malignant tumorImaging diagnosis
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 611-614 )