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目的探讨磁共振检查对冯·希佩尔·林道(Von Hippel-Lindau,VHL)综合征诊断的价值。方法回顾性分析2010年5月-2015年9月第三军医大学新桥医院16例经病理及影像证实为VHL综合征的临床及多部位磁共振资料,并总结其临床及MR表现,探讨本病的诊断思路。结果 16例中女性10例,男性6例,平均年龄32.4岁,10例有家族患病史。16例MR资料均显示为多系统病变,全部合并中枢神经系统血管母细胞瘤(MR表现多呈“大囊肿伴壁结节”混合肿块),5例为首发病变;6例合并视网膜血管母细胞瘤,其中2例为首发病变;9例合并肾透明细胞癌及肾囊肿,其中4例为首发病变;7例合并胰腺多发囊肿,其中2例为首发病变;7例合并嗜铬细胞瘤,其中3例为首发病变;其他还合并肾血管平滑肌脂肪瘤、肝血管瘤等。结合临床及多部位MR资料,最后诊断为ⅠA型6例,ⅠB型3例,ⅡA型4例,ⅡB型3例。结论 VHL综合征有遗传倾向且常累及多个器官,多以中枢神经系统血管母细胞瘤及内脏病变为首发病变;联合多部位MR检查有利于VHL综合征的诊断。
Objective To investigate the value of magnetic resonance imaging in the diagnosis of Von Hippel-Lindau (VHL) syndrome. Methods A retrospective analysis of clinical and multi-location MRI data of 16 patients with VHL syndrome confirmed by pathology and imaging from May 2010 to September 2015 in Xinqiao Hospital of the Third Military Medical University was reviewed. Clinical and MR findings were summarized, Disease diagnosis ideas. Results 16 cases of female 10 cases, 6 males, mean age 32.4 years, 10 cases have a family history. 16 cases of MR data showed multiple system lesions, all with central nervous system hemangioblastoma (MR showed mostly “large cyst with wall nodules” mixed mass), 5 cases were the first lesion; 6 cases with retinal vascular 9 of the patients with renal clear cell carcinoma and renal cyst, of which 4 cases were the first lesion; 7 cases with multiple pancreatic cysts, of which 2 cases were the first lesion; 7 cases with pheochromocytoma , Of which 3 cases were the first lesion; others also combined with renal vascular smooth muscle lipoma, hepatic hemangioma and so on. Combined with clinical and multi-site MR data, the final diagnosis of type Ⅰ A 6 cases, Ⅰ B 3 cases, Ⅱ A 4 cases, Ⅱ B 3 cases. Conclusions VHL syndrome has a genetic predisposition and often involves multiple organs, mostly central nervous system hemangioblastoma and visceral lesions as the first lesion; combined with multi-site MR examination is conducive to the diagnosis of VHL syndrome.