摘要
目的 von Hippel-Lindau(VHL)综合征是一组罕见的多器官受累的常染色体显性遗传性疾病,临床表现复杂、易误诊。本文探讨VHL综合征的临床特点、CT及MRI特征,提高对本病的早期诊断和综合治疗水平。资料与方法回顾性分析5例VHL综合征患者的临床资料、CT及MRI表现,随访治疗后的结局。结果 5例VHL综合征患者中,小脑血管网织细胞瘤4例,其中1例合并脑干多发血管网织细胞瘤,颈髓多发血管网织细胞瘤1例,典型MRI表现为多发囊实性混杂信号,强化MRI呈实质部明显强化。肾透明细胞癌3例,典型CT表现为等或稍低密度肿块,强化CT可见肿块呈欠均匀强化。双侧附睾囊腺瘤1例,超声示双侧附睾囊实性肿物,实质部分回声不均匀且血流丰富。出院后随访至2015年1月,格拉斯哥预后评分恢复良好3例,死亡2例,均死于肾癌。结论 VHL综合征患者预后较差,肾癌为主要死亡原因。早期应对高度怀疑或已诊断为VHL综合征的患者行VHL基因检测分析并仔细询问其家族史,早期治疗、长期随访及定期影像学检查有助于改善患者预后。
Purpose Von Hippel-Lindau（VHL） syndrome is a rare autosomal dominant diseases involved multiple organs. This paper aims to explore the clinical and imaging features of VHL syndrome for the improvement of early diagnosis and treatment of this disease. Materials and Methods The clinical and imaging data, as well as their history of 5 patients with VHL syndrome were retrospectively studied. Follow-up was performed and the related literature was also reviewed. Results Among the 5 patients, 4 were found with angioreticulomas. One out of four patients simultaneously suffered from multiple angioreticulomas in brainstem, and another one had multiple cervical cord angioreticulomas. The typical MRI showed multiple cystic and solid mass with mixed intense signals, and the enhanced MRI displayed obvious enhancement in the solid part of the mass. Three patients were diagnosed with renal clear cell carcinomas. The typical CT scan showed equidensity or slightly low density signals, and the enhanced CT scan noted heterogeneous enhancement. Besides, bilateral epididymis cystadenoma occurred in one case. The ultrasonography presented heterogeneous echo and rich blood vessels. The follow-ups had been conducted till January 2015. According to the Glasgow outcome scale, three patients were in good conditions, while the other two died from renal clear cell carcinomas. Conclusion Patients with VHL syndrome usually have an unsatisfactory prognosis and most may die from renal carcinoma. Genetic test and investigation of family history should be performed as early as possible on patients with highly suspected or confirmed VHL Early treatment, life-long follow-up and periodic imaging examinations may be helpful in the prognosis.
出处
《中国医学影像学杂志》
CSCD
北大核心
2015年第10期735-738,共4页
Chinese Journal of Medical Imaging
作者简介
通讯作者E—mail：yangjipengyida@163．com.
