von Hippel-Lindau病三例并文献复习

Report of 3 cases of von Hippel-Lindau disease

目的:初步探讨VHL病的发病机制、诊断以及治疗。方法:回顾分析既往收治的3例VHL病人并结合文献复习。结果:3例患者中1例有家族史,另2例为多发病变,均未能全切。第1例患者鞍上无症状病变动态观察,第2例患者颈椎HB过小,动态观察,第3例患者一处病变位于颈椎腹侧,无法切除,其余病变全部切除。结论:本病诊断主要依靠MRI,治疗主要依靠手术,因累及脏器多,很难全部切除,易复发,愈后较差。

Objective：To investigate the etiopathogenesis,diagnosis and treatment of von Hippel-Lindau（VHL）disease.Methods：The clinical data of 3 cases with VHL were retrospectively studied with involved literature review.Results：One of the three patients had family history and another two were cases with multiple pathological changes.None could be removed thoroughly.The asymptomatic case in the sellar region was monitored for the development,the second case was only kept close observation due to smaller hemangioblastoma of the cervical vertebra.The 3rd underwent the tumor removal except for one region beneath the cervical spinal cord.Conclusion：The diagnosis of this disease chiefly depends on MRI.Although surgery is the sole solution to the treatment of the disease,unfortunately,it is difficult to remove the tumors because of multiple organs involvement.In addition,frequent relapse of this disease may lead to poor prognosis.