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目的:探讨Von Hippel-Lindau disease(VHL)病临床和影像学特点。方法:回顾性分析日本横滨市立大学附属医院2001～2006年间经手术和病理确诊的15例Von Hippel-Lindau disease(VHL)病的临床和影像学资料并且复习相关文献。结果:本病好发男性青壮年,47%(7/15)可追溯到家族史,所有病例有血管母细胞瘤,绝大多数发生在小脑(13/15),为实性小结节或者囊实性结节,部分见于脊髓;视网膜血管瘤占40%(6/15);绝大多数合并内脏囊肿,包括肝脏、胰腺和肾脏,占87%(13/15);肾癌占60%(9/15),可单侧或者双侧;嗜铬细胞瘤占13%(2/15)。结论:VHL病是家族遗传性多系统肿瘤综合征,熟悉其临床和影像学表现有助于正确的诊断。
Objective: To investigate the clinical and imaging features of Von Hippel-Lindau disease (VHL). Methods: The clinical and imaging data of 15 cases of Von Hippel-Lindau disease (VHL) diagnosed by surgery and pathology from 2001 to 2006 at Yokohama Municipal University Hospital were retrospectively reviewed and reviewed. RESULTS: The disease predominantly occurred in males and females, with 47% (7/15) dating back to family history. All cases had hemangioblastomas, the vast majority of which occurred in the cerebellum (13/15), solid nodules or Cystic solid nodules, some found in the spinal cord; retinal hemangiomas accounted for 40% (6/15); the vast majority of visceral cysts, including liver, pancreas and kidney, accounting for 87% (13/15); renal cancer accounted for 60% (9/15), unilateral or bilateral; pheochromocytoma accounted for 13% (2/15). CONCLUSIONS: VHL is a familial hereditary multisystem tumor syndrome. Being familiar with its clinical and radiological findings contributes to the correct diagnosis.