磁共振检查对冯·希佩尔·林道综合征诊断的意义

目的 分析VHL的磁共振影像特征，评价其对手术治疗的指导意义。方法 回顾性分析本院2006年2月~2017年10月16例经病理及影像证实为VHL综合征患者的临床及多部位磁共振资料，并总结其临床及MRI表现，探讨本病的诊断思路。结果 16例中女性11例，男性5例，年龄7~49岁，平均年龄（25.32±8.14）岁，12例有家族患病史。16例中有15例合并中枢神经系统血管母细胞瘤，病变位于小脑10例，位于脊髓3例，同时受累2例（MRI表现多呈“大囊肿伴壁结节”混合肿块），5例为首发病变；7例合并视网膜母细胞瘤，其中左侧2例，右侧3例，其中2例为首发病变，平扫T1和FLAIR信号高于玻璃体，T2呈等、高信号，增强扫描病变实性部分明显强化，少数轻度强化；10例合并肾透明细胞癌和肾囊肿，肾癌单发3例、多发6例，一侧肾多发2例，双侧肾多发4例，肾癌平扫时T1WI呈等或低信号，T2WI呈高信号，可伴有囊变及钙化，增强扫描病灶明显强化，肾囊肿表现为无强化的多个薄壁液性病灶；7例合并胰腺多发囊肿，其中2例为首发病变，胰腺囊肿表现为无强化的多个薄壁液性病灶；7例合并嗜铬细胞瘤，其中3例为首发病变，平扫时T1WI以低信号、T2WI以高信号为主，增强扫描实质部分明显强化；其他还合并肾血管平滑肌脂肪瘤、肝血管瘤等。结论 VHL综合征具有一定遗传倾向，常累及多个系统及器官，最常见以中枢神经系统血管母细胞瘤及内脏病变为首发病变；磁共振成像具有多参数任意方位成像、软组织分辨力高、无电离辐射等优点，联合多部位MRI检查有利于VHL综合征的早期诊断，可提高患者的生存质量及生存期。

The Significance of Magnetic Resonance Examination in the Diagnosis of Von Hippel-Lindau Disease

Abstract:Objective To analyze the magnetic resonance imaging features of VHL and evaluate its guiding significance for surgical treatment.Methods A retrospective analysis of 16 cases of clinical and multi-site magnetic resonance data confirmed by pathology and imaging confirmed VHL syndrome from February 2006 to October 2017,and summarized its clinical and MRI findings,and explored the diagnosis of this disease.Results Among the 16 patients,11 were female and 5 were male,aged 7 to 49 years,with an average age of(25.32±8.14)years old,and 12 patients had a family history.Among the 16 cases,15 cases were associated with central nervous system hemangioblastoma.The lesions were located in the cerebellum in 10 cases,in the spinal cord in 3 cases,and in the affected 2 cases(MRI showed mostly"large cysts with wall nodules"mixed mass),5 cases were the first lesions;7 cases were associated with retinoblastoma,including 2 cases on the left side and 3 cases on the right side,2 of which were the first lesions.The T1 and FLAIR signals were higher than the vitreous,and the T2 was equal and high signal.Scanning the solid part of the lesion was obviously strengthened,a few mild enhancement;10 cases with renal clear cell carcinoma and renal cyst,3 cases of renal cell carcinoma,6 cases of multiple,2 cases of multiple renal side,4 cases of bilateral renal multiple,kidney T1WI showed equal or low signal in the plain scan, T2WI showed high signal,which could be accompanied by cystic change and calcification,and enhanced scanning lesions were obviously strengthened.The renal cyst showed multiple thin-walled liquid lesions without enhancement;7 cases with multiple pancreatic lesions cysts,2 of which were primary lesions,pancreatic cysts showed multiple thin-walled fluid lesions without enhancement;7 patients with pheochromocytoma,3 of which were primary lesions,in the plain scan,T1WI was mainly low signal and T2WI was high signal,and the enhanced scan was obviously strengthened.Others were combined with renal angiomyolipoma and hepatic hemangioma.Conclusion VHL syndrome has a certain genetic predisposition,often involving multiple systems and organs.The most common is the central nervous system hemangioblastoma and visceral lesions.The magnetic resonance imaging has multi-parameter arbitrary orientation imaging,high soft tissue resolution,without ionizing radiation and other advantages,combined multi-site MRI examination is conducive to the early diagnosis of VHL syndrome,which can improve the quality of life and survival of patients.