中枢神经系统中的von Hippel-Lindau病(附2例家系报告)

Von Hippel-Lindau disease of the central nervous system

目的：探讨中枢神经系统中的von Hippel—Lindau病（VHIM）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VHIM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。

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 yon 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.