3 резултати
Various mutations in the VHL gene on chromosome 3p25-26 are responsible for von Hippel-Lindau (VHL) syndrome. We report on a Japanese VHL family in which two of the three affected members developed acute occlusive hydrocephalus that necessitated emergency surgery for ventricular shunt or drainage.
OBJECTIVE
Research into the etiopathogenesis of intracranial aneurysms has failed to demonstrate molecular markers or pathognomonic genetic sequences. The authors describe the case of aneurysmal rupture in a patient with von Hippel-Lindau (VHL) syndrome and explore a possible molecular
BACKGROUND
von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which affected individuals may develop CNS and retinal hemangioblastomas, pheochromocytomas, renal cell carcinoma, and cysts of various organs. The VHL gene has been localized to chromosome 3p25-26 and >500 germline