Bilge T, Bilge S, Barut S, Cokneşeli B
Department of Neurosurgery, Taksim Hospital, Istanbul, Turkey.
Acta Neurol Belg. 1991;91(4):223-9.
Thirty-five members of a family affected with von Hippel-Lindau's disease (VHL) were examined and lesions were found in nine of them. Four of the lesions were located in the central nervous system; two cerebellar, one spinal, one cerebral. Eye lesions were present in eight of the nine patients and complications developed in seven; six unilateral and one bilateral blindness. Both mortality and morbidity were found to be higher than in other series. This is attributed to insufficient screening of the patients with familial VHL, the late diagnosis was established only after the onset of complications. The importance of screening tests in VHL risk patients is emphasized.
对一个患有冯·希佩尔-林道病（VHL）的家族中的35名成员进行了检查，其中9人发现有病变。4个病变位于中枢神经系统；2个在小脑，1个在脊髓，1个在大脑。9名患者中有8人出现眼部病变，7人出现并发症；6人单侧失明，1人双侧失明。发现死亡率和发病率均高于其他系列。这归因于对家族性VHL患者的筛查不足，直到并发症出现后才确立晚期诊断。强调了对VHL风险患者进行筛查测试的重要性。
