VHL综合征临床特点及影像学表现——附3例报告并文献复习

Von Hippel-Lindau syndrome: 3 cases report and review of the literature

目的探讨VHL(Von Hippel-Lindau,VHL)综合征的临床和影像学特征。方法回顾性分析3例经术后病理证实的Von Hippel-Lindau综合征的临床和影像学资料。结果3例均为男性,均合并小脑血管母细胞瘤和肾透明细胞癌、肾囊肿。1例合并胰腺囊肿和腹壁血管瘤,1例合并肾上腺腺瘤和睾丸囊肿,1例有家族史。小脑血管母细胞瘤发病时间25～35岁,肾脏透明细胞癌发病时间35～50岁。结论Von Hippel-Lindau综合征病变可累及多个器官,临床表现多样,对合并中枢神经系统血管瘤和肾胰囊肿或透明细胞癌的可疑该病患者,应对该患者及其家族成员进行长期随访追踪并定期全面地影像学体检,以尽早发现,尽早治疗。

Objective To investigate the clinical and imaging features of Von Hippel-Lindausyndrome.MethodsThe clinical and imaging data of 3 patients with Von Hippel-Lindausyndrome confirmed by pathological assessment were analyzed retrospectively.ResultsAll3 patients were male, who suffered cerebellar hemangioblastoma, clear-cell carcinoma ofkidney and renal cyst. Of 3 patients, one was combined with pancreatic cyst and abdominalwall hemangioma, one with adrenal adenocarcinoma and testicular cyst, and one with familyhistory. In 3 patients, the cerebellar hemangioblastoma were found in the period of 25～35years old, and the clear-cell carcinoma of kidney were detected in the period of 35~50 yearsold.ConclusionVon Hippel-Lindau syndrome can invade many organs,and its clinicalmanifestations are various. In order to decrease the death rate of Von Hippel-Lindausyndrome, the long term following-up and the periodic imaging examinations should beperformed in the doubtful patients and their family members.[