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目的总结Von Hippel-Lindau(VHL)综合征的影像学表现和诊断方法。方法回顾分析4例vHL综合征患者的影像学、家族遗传史和其他临床资料,结合复习相关文献,探讨该少见遗传病的诊断方法。结果本组4例患者,男1例,女3例,年龄28~41岁,中位年龄34.3岁,影像学均表现为胰腺多发囊实性占位和双肾多发囊实性肿物。既往都有脑内肿瘤手术史和家族多人发病的遗传史,符合Maher等提出的该综合征诊断标准。结论 VHL基因不同突变类型导致不同表现型,临床表现形式复杂多样,认识VHL综合征的影像特征,结合临床病史可以明显提高其诊断水平。
Objective To summarize the imaging findings and diagnostic methods of Von Hippel-Lindau (VHL) syndrome. Methods Retrospective analysis of 4 cases of vHL syndrome in patients with imaging, family history and other clinical data, combined with the review of relevant literature to explore the diagnosis of rare genetic disease. Results The group of 4 patients, 1 males and 3 females, aged 28 to 41 years, mean age 34.3 years old, imaging showed multiple cystic pancreas solid and multiple cystic solid tumors. Past history of intracerebral tumor surgery and family history of multiple pathogenesis, in line with Maher and other syndromes proposed by the diagnostic criteria. Conclusion Different mutations of VHL gene lead to different phenotypes, and their clinical manifestations are complex and diverse. Recognizing the image features of VHL syndrome and combining with clinical history can obviously improve their diagnostic value.