中枢神经系统中的von Hippel-Lindau病(附2例家系报告)

目的:探讨中枢神经系统中的von Hippel-Lindau病(VHLd)的临床和影像学特点及治疗方法。方法:对1996年6月~2005年6月间收治的7例VHLd患者进行CT、MRI、检查和手术治疗,并进行家系调查。结果:7例患者均病理证实为血管网织细胞瘤,同时合并有视网膜血管瘤、肾囊肿等。4例患者有明确家族史。显微手术全切除6例,痊愈出院;次全切除1例,术后1月死亡。结论:MRI增强扫描对中枢神经系统VHLd的检查极其敏感,手术是本病的首选治疗手段,术后应长期随访,并防止遗漏颅外病变。

Von Hippel-Lindau disease of the central nervous system

Objective:To investigate the clinical and imaging feature and treatment of von Hippel-Lindau disease(VHLd) of the central nervous system. Methods: The clinical and imaging data and treatment of 7 patients with von Hippel-Lindau disease were analyzed retrospectively. Results: All 7 patients suffered cerebellar or brainstem hemangioblastoma. Of 7 patients, four were with positive family history, and three with renal cyst or retinal angiomas. The total tumor removal was accomplished in 6 cases, subtotal in 1 patient who died after a month. Conclusion: The hemangioblastomas can be correctly diagnosed before operation according to its MRI feature. Microsurgical operation should be recommended. Once an individual is identified to have VHLd, follow-up and intensive family history should be taken.