Von Hippel-Lindau综合征的影像学特征

目的 分析Von Hippel-lindau(VHL)综合征的CT及MRI表现,探讨其影像学特征.方法 回顾性分析经病理证实的9例VHL综合征患者资料,对其CT及MR表现进行系统性分析.结果 9例患者影像学检查均有一处或多处神经系统的血管母细胞瘤,其中3例病变单发于脊髓,2例单发于小脑,4例脊髓与小脑同时发现病变;2例视网膜多发动脉瘤;2例内淋巴囊瘤;8例有胰腺、肝或肾的多发肿瘤和囊肿;4例具有家族遗传史.结论 VHL综合征可累及多个器官,影像及临床表现复杂多样,熟悉掌握其影像学表现有利于疾病的诊断.

Imaging features of Von Hippel-Lindau syndrome

Objective To analyze CT and MRI characteristics of Von Hippel-lindau (VHL) syndrome, and to observe its imaging features. Methods Nine patients with VHL syndrome proved pathologically were retrospectively reviewed, and their CT and MRI appearances were systematically analyzed. Results CNS hemangioblastomas in 1 or multiple sites involved in all the patients, which consisted of solitary spinal marrow tumor in 3 patients, cerebellum tumor in 2 patients, 4 patients involved both spinal marrow and cerebellum. There were multiple retinal aneurysms in 2 patients, endolymphatic sac tumors in 2, visceral lesions in 8 patients included pancreatic, liver or renal tumors and cysts, and 4 patients had family history. Conclusion Considering the complex of the clinical and imaging appearances of VHL syndrome, which can involve multiple organs, mastering the imaging features will be helpful to the diagnosis of this disease.