论文部分内容阅读
目的探讨von Hippel-Lindau综合征(VHL综合征,希佩尔-林道综合征)脑干病变的诊断与治疗。方法回顾性分析2例经影像和术后病理证实为VHL综合征病例,结合文献讨论其临床特点及手术治疗。结果 2例系同一家族,均合并延髓血管母细胞瘤;1例合并颈胸髓囊实性结节、肾透明细胞癌及胰腺囊肿;2例均行手术治疗,术后症状明显改善。结论 VHL综合征常累及多个器官,有家族遗传倾向,应对其患者的家族成员进行筛查。对于合并中枢神经系统血管母细胞瘤患者,首选手术治疗。
Objective To investigate the diagnosis and treatment of von Hippel-Lindau syndrome (VHL syndrome, Hepatic-Lindau syndrome). Methods A retrospective analysis of 2 cases of pathologically confirmed by pathology and VHL syndrome cases, combined with the literature discuss its clinical features and surgical treatment. Results Two cases of the same family were all associated with medullary hemangioblastoma. One case was accompanied with solid nodules of cervical and thoracic plexus, clear cell renal cell carcinoma and pancreatic cyst. Both cases underwent surgery and the symptoms were significantly improved. Conclusions VHL syndrome often involves multiple organs and has family genetic predisposition, and its family members should be screened. For patients with central nervous system hemangioblastoma, the preferred surgical treatment.