Recent studies of a relatively rare hereditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular pathogenesis of kidney cancer and, perhaps more important, on how mammalian cells sense and respond to changes in oxygen availability. This knowledge is already translating into new therapeutic targets for kidney cancer as well as for multiple conditions, such as...

Two cases of von Hippel-Lindau's disease with special reference to the occurrence of renal carcinoma are presented. The first case demonstrates the difficulty of differentiating cerebellar haemangioblastoma from metastatic renal carcinoma affecting the cerebellum. The valuable differentiating histological features were positive staining of metastatic renal carcinoma by antiepithelial membrane a...

CLINICAL CASE Man carrier of the von Hippel-Lindau (VHL) gene, with long-onset loss of vision in left eye. He had a retinal capillary hemangioma (HCR) and diffuse cystic edema in posterior pole. The systemic study revealed bilateral kidney tumors. Laser photocoagulation was performed which produced a subretinal and vitreous hemorrhage that required vitrectomy. DISCUSSION Retinal capillary hem...

We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enhanced magnetic resonance imagi...

Q1: What family history should be explored in a 17 year old girl with multiple cerebellar haemangioblastomas and why? The development of haemangioblastoma within the central nervous system is a common first manifestation of von Hippel-Lindau disease, which is inherited in an autosomal dominant fashion. A careful family history would be expected to reveal similar features of the condition within...

Two cases of von Hippel-Lindau's disease with special reference to the occurrence of renal carcinoma are presented. The first case demonstrates the difficulty of differentiating cerebellar haemangioblastoma from metastatic renal carcinoma affecting the cerebellum. The valuable differentiating histological features were positive staining of metastatic renal carcinoma by antiepithelial membrane a...

a 22 year-old woman presented with gradual visual loss in her right eye since 1990. medical and family histories were unremarkable. her visual acuity was 20/80 and 20/20 in right and left eyes respectively. slit lamp examination was quite normal with no relative afferent papillary defect.fundi of both eyes revealed subretinal lesion with optic nerve head involvement and subretinal fluid in papi...