目的：探讨von Hippel-Lindau（VHL）综合征的临床及影像学特征，提高对VHL综合征的认识并减少漏诊及误诊。方法：回顾性分析经CT及MRI诊断的2例VHL综合征的临床及影像学资料，并复习相关文献，总结其影像学诊断依据。结果：2例病例均有中枢神经系统血管母细胞瘤，1例伴发肾癌及多囊胰，另1例伴发双侧肾上腺嗜铬细胞瘤。结论：基因诊断确诊前，CT及MRI全面检查是诊断VHL综合征的主要手段，MRI在诊断中枢神经系统血管母细胞瘤方面具有优势。
Abstract
Objective: To explore the clinical and imaging characteristics of von Hippel-Lindau syndrome(VHL), to improve the understanding of the disease in order to avoid misdiagnosis or missed diagnosis. Methods: The clinical and imaging data of 2 cases of VHL syndrome diagnosed by CT and MRI were analyzed retrospectively, and the related literatures were reviewed, and then the basis of imaging diagnosis was summed up. Results: There were 2 cases of central nervous system hemangioblastoma. One case with kidney cancer and polycystic pancreas, the other case with bilateral adrenal pheochromocytoma. Conclusion: Before the gene final diagnosis, the comprehensive inspections of CT and MRI are the major means of diagnosis of VHL syndrome. MRI has the advantage in the diagnosis of hemangioblastoma of central nervous system.
关键词
Hippel-Lindau病 /
遗传性疾病 /
先天性 /
磁共振成像 /
体层摄影术 /
X线计算机
Key words
Hippel-Lindau disease /
Genetic disease, inborn /
Magnetic resonance imaging /
Tomography, X-ray computed
中图分类号：
Ｒ596.1
Ｒ814.42
Ｒ445.2
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