贵州省一家族性VonHippel-Lindau病的临床诊治和随访

目的分析贵州省一家族性VonHippel—Lindau病的临床特点、影像学表现、诊断治疗方法和预后。方法回顾性分析贵阳医学院附属医院1997年3月至2011年11月收治的1个家族性血管母细胞瘤家系（38人）7例患者的病史、临床表现、影像学相关资料。结果7例患者均未合并其他部位病变，MRI显示6例为实质性肿瘤，1例囊性肿瘤；4例患者共进行7次显微手术，切除血管母细胞瘤10枚，术后随访1例血管母细胞瘤在不同部位反复复发又经2次开颅手术、2次伽玛刀放射治疗；先证者在术后6年异位复发，复发病灶约为1mm，未予处理，继续随访；1例进行激光治疗视网膜血管瘤；2例症状不明显进行随访，在随访中未见新发病灶，原病灶也未增大。结论对于家族性血管母细胞瘤，头颅MRI检查是主要的诊断及随访方法，显微手术切除是主要治疗手段，立体定向放射治疗可作为补充治疗方法。由于家族性血管母细胞瘤易合并其他部位病变、复发率高、常为多发病灶，应加强对整个家族成员追踪随访和基因检测。

Clinical study of a familial Von Hippel-Lindau disease in Guizhou province

Objective To analyze the clinical features, imaging manifestation, diagnosis and treatment method as well as prognosis of a familial Von Hippel-Lindau disease in Guizhou. Methods The medical history, clinical manifestation and imaging data of 7 cases of patients from a vascular tumor familial pedigree （38 people）treated in Affiliated Hospital of Guiyang Medical College from March, 1997 to November,2011 were analyzed. Results No other lesions occurred in 7 cases. The MRI results showed that solid tumor occurred in 6 cases ,cystic tumor occurred in one case ;4 cases were performed with microsurgery for 7 times and removed 10 hemangioblastoma. After surgery, one case in follow-up was performed with craniotomy for two times and gamma knife radio surgery for two times in different sites;ectopic recurrence occurred in the proband 6 years after the surgery, with recurrent lesion about 1 ram, without processing, continuous follow-up; one case was performed with laser treatment for retinal hemangioma; no obvious symptoms occurred in 2 cases, without new lesions in follow-up and the original lesion did not increase. Conclusions For familial hemangioblastoma,cranial MRI examination is the main method of diagnosis and follow-up,microsurgery resection is the main treatment method, stereotactic radiotherapy can be used as a supplementary treatment method. Familial hemangioblastoma is easy to be combined with other parts of lesion, with high recurrence rate and multiple lesions, the follow-up and genetic testing should be strengthened for the whole family members.