摘要
Von Hippel Lindau disease(VHL病)为临床罕见的常染色体显性遗传病,以引起视网膜、中枢神经系统及其他器官的血管瘤为主要表现。本文报告一家族两代4人患VHL病之病案,所有之病例均经萤光眼底血管造影检查及开颅手术探查、病理检查确诊为VHL病。笔者结合临床病案,复习文献,对VHL病的临床表现、诊断、治疗及预后进行讨论。
Von Hippel Lindau disease (VHL) is a kind ofrare case of autosomal dominant inherittance dis-ease. It is demonstrated mainly by the angioma ofretina, craniul nerves and other organs. In this pa-per 4 cases of VHL are reported in a family withintwo generations. All of them have been examinedby the fluorescein fundus angiography and thecraniotomic operation, and finally confirmed thediagnosis of VHL disease. Using these VHL cas-es, and reviewing the relative references, the writ-er of the paper discussed the VHL's clinical mani-festation, diagnosis, treatment, prevention and re-covery.
出处
《西安医科大学学报》
CSCD
1993年第2期162-163,176,T001,共4页
Journal of Xi'an Medical University(Chinese)
关键词
视网膜
血管瘤
脑
血管造影
retinal angioma
encephalic angioma
fluorescein fundus angiography
