Objective To investigate the clinical and genetic features of a Chinese family with von Hippel-Lindau（VHL） disease revealed by bilateral pheochromocytoma.Methods The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up.Genomic DNA extracted from the peripheral blood of 8 family members（including 3 patients） was amplified by polymerase chain reaction（PCR） and the PCR products were directly sequenced.Results The first presentation in the proband

his mother

and his sister was bilateral pheochromocytoma

and the missense mutation of 695G-A（Arg161Gln） in exon 3 of VHL gene was detected in the three patients.In the follow-up study

the proband and his mother were found to have other VHL tumors

induding retinal and cerebellar hemangioblastomas and pancreatic tumor.Neither clinical presentation of VHL disease nor gene mutation was found in other family members.Conclusion VHL disease should be suspected in some patients with familial pheochromocytoma

and VHL gene screening helps to achieve early diagnosis of the disease.