Von Hippel-Lindau病的CT及MRI影像学特点

CT and MRI Imaging Features of Von Hippel-Lindau Disease

目的:分析Von Hippel-Lindau(VHL)病的CT及MRI影像学特点。方法:回顾性分析7例经基因检测证实的VHL病患者的临床资料及CT、MRI影像学特点。结果:7例患者中,CNS血管母细胞瘤6例(小脑单发2例,腰髓单发1例,脑及脊髓多发3例),MRI表现为实性或囊实性病灶,前者增强后实性结节明显强化,后者呈典型“大囊小结节”伴结节明显强化。视网膜母细胞瘤1例,20年前已手术切除。7例患者腹部均有一个或多个内脏病变,其中胰腺多发囊肿7例,胰腺肿瘤1例,肾透明细胞癌6例(均为多发),肾脏多发囊肿4例,肾上腺嗜铬细胞瘤3例,双侧睾丸肿瘤1例。结论:VHL病累及全身多个器官,影像表现多样,以血管母细胞瘤、胰腺多发囊肿及肾细胞癌最常见,熟悉其影像表现对早期诊断、早期治疗及延长患者生命具有重要意义。

Objective To analyze the CT and MRI imaging features of Von Hippel-Lindau(VHL)disease.Methods The CT and MRI imaging features and clinical data of 7 patients with VHL disease confirmed by genetic testing were analyzed retrospectively.Results Among the 7 patients,there were 6 cases of CNS hemangioblastoma(2 cases of cerebellar solitary tumors,1 case of lumbar spinal solitary tumors,and 3 cases of multiple lesions in the brain and spinal cord).MRI showed solid or cystic solid lesions,with the former showing significant enhancement of the solid nodules after enhancement,while the latter showed typical"large cystic small nodules"with significant enhancement of the nodules.One case of retinoblasto⁃ma was surgically removed 20 years ago.All 7 patients had one or more visceral lesions in the abdomen,including 7 multi⁃ple pancreatic cysts,1 pancreatic tumor,6 renal clear cell carcinoma(all multiple),4 renal cysts,3 adrenal pheochromo⁃cytoma,and 1 bilateral testicular tumor.Conclusion VHL disease involves multiple organs of the body,and has various imaging manifestations.Hemangioblastoma,multiple cysts of the pancreas,and renal cell carcinoma are the most common.Familiarity with their imaging manifestations is of great significance for early diagnosis,early treatment and prolonging the life of patients.