Von Hippel-Lindau病相关性中枢神经系统血管母细胞瘤

目的探讨yon Hippel—Lindau病相关性中枢神经系统血管母细胞瘤的临床特点、治疗原则及预后。方法对2000年1月-2005年1月收治的18例von Hippel—Lindau病相关性中枢神经系统血管母细胞瘤患者的临床资料进行回顾分析，并与同期收治的散发性中枢神经系统血管母细胞瘤患者比较，对其中1例资料完整者的家系进行详细调查。结果18例患者平均年龄37．60岁，其中有明确家族遗传史者7例，伴肾囊肿10例，伴胰腺囊肿5例，伴视网膜血管瘤3例，伴肾癌1例，伴肾上腺嗜铬细胞瘤1例。与散发性中枢神经系统血管母细胞瘤相比，von Hippel—Lindau病相关性中枢神经系统血管母细胞瘤患者更容易出现多发性血管母细胞瘤，手术前平均外周血红蛋白水平多〉160g／L。18例中无一例手术死亡，手术后全部获得平均42个月的随访，Kamofsky预后评分〉80分者12例〈66．67％），死亡2例（分别死于脑干血管母细胞瘤复发和肾癌多发转移）。家系调查显示．家系成员发病以血管母细胞瘤多见（10／12），且2例为多发性血管母细胞瘤，遗传可能来自母系，外显率为12／31（38．71％）。结论对于多发性血管母细胞瘤或手术前平均外周血红蛋白水平〉160g／L的血管母细胞瘤患者应高度怀疑von Hippel-Lindau病，须施行严格的眼底镜检查或眼底荧光造影、腹部B超、CT检查，以排除von Hippel-Lindau病。一旦明确诊断则建议患者出院后定期进行上述检查，以便早期发现新的病灶，及时治疗。

Von Hippel-Lindau disease-related hemangioblastoma of the central nervous system

Objective To explore the clinical manifestations, management and prognosis in patients with von Hippel-Lindau (VHL) disease-related central nervous system (CNS) hemangioblastoma (HB). Methods Clinical data of 18 patients with VHL disease-related CNS HB in our department from January 2000 to January 2005 were analyzed and compared with sporadic HB patients admitted in the same period. Furthermore, a detailed familial survey was performed in a case with complete data. Results The mean age of 18 patients was 37.60 years old, and 7 cases had definite family history. There were 10 cases with renal cyst, 5 cases with pancreatic cyst, 3 cases with retinal angioma, 1 case with renal carcinoma, and 1 case with adrenal phaeochromocytoma. Comparing with sporadic HB, VHL disease-related CNS HB was more susceptible to multiple HB, and the mean peripheral hemoglobin level > 160 g/L before operation. All of the 18 cases were treated with neurosurgical operation and no one died during the procedure. The mean post operative follow-up period was 42 months. There were 12 cases (66.67%) with Karnofsky prognosis score > 80, and 2 cases died (one died of brainstem HB recurrence, and the other died of multi-metastasis of renal carcinoma). Familial survey showed that HB was often found in family members (10/12), and 2 cases suffered with multiple HB. The inheritance may possibly originate from maternal side. The penetrance was 38.71% (12/31). Conclusion Multiple HB or HB patient with mean peripheral hemoglobin level > 160 g/L before operation must be highly suspected of suffering with VHL disease, and should receive strictly funduscopy or ocular fundus fluororoentgenography, and B mode ultrasonography and computed tomography examination of abdomen to exclude VHL disease. It is suggested that once the diagnosis of VHL disease is established the above examinations should be performed periodically in order to find out new foci earlier and to be treated timely.