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...

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 enha...

OBJECTIVES In adults, increasing numbers of adrenalectomies for pheochromocytomas are performed laparoscopically. We report for the first time laparoscopic bilateral subtotal adrenalectomy for pheochromocytomas in an 8-year-old boy with von Hippel-Lindau disease. METHODS In July 1998, an 8-year-old boy with von Hippel-Lindau disease underwent laparoscopic adrenal-sparing surgery for bilateral...

BACKGROUND Involvement of the pancreas in Von Hippel-Lindau disease that is a tumor predisposing syndrome mentioned in literature with some morbid and mortal progression. AIMS For evaluation the faith of the pancreatic involvement in VHL disease we analysed our patient population with VHL disease. MATERIALS AND METHODS 12 of the 56 patients that were evaluated in our institute with the diag...

OBJECTIVE The aim of this case report was to highlight the importance of ruling out pheochromocytoma in a patient with Von Hippel-Lindau disease (VHL) and cardiovascular manifestations. CLINICAL PRESENTATION AND INTERVENTION A 22-year-old woman with type IIb VHL presented with signs and symptoms of acute decompensated heart failure. Transthoracic echocardiography showed a dilated left ventric...

Von Hippel Lindau disease is a hereditary phakomatosis characterized by congenital angiomatosis of the retina and cerebellum. This autosomal dominant syndrome exhibits variable penetrance and expressivity. Because of the marked clinical variability and sporadic age of onset, members of affected families must be counseled and screening protocols established. It has been recommended that initial ...

Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between fam...

VHL patients develop tumors in brain, spinal cord, nerve roots, kidney, adrenal gland and extra-adrenal ganglia, pancreas, epididymis and broad ligament. VHL disease produces highly characteristic neuropathologic changes which are presented in this review. Highly vascularized tumors, hemangioblastomas, involve cerebellum and spinal cord of the majority of patients. A smaller number of patients ...