N. A. Krivova, Max-Planck-Institut für Sonnensystemforschung, Max-Planck-Str. 2, 37191 Katlenburg-Lindau, Germany ([email protected]) S. K. Solanki, Max-Planck-Institut für Sonnensystemforschung, Max-Planck-Str. 2, 37191 Katlenburg-Lindau, Germany T. Wenzler, Hochschule für Technik Zürich, CH-8004 Zürich, Switzerland B. Podlipnik, Max-Planck-Institut für Sonnensystemforschung, Max-Planck-Str. ...

background von hippel-lindau (vhl) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. this disease can present with different clinical presentations such as; retinal angioma (ra), hemangioblastoma (hb) of the central nervous system (cns), pheochromocytoma (pheo), and epididymal cystadenoma. tumors are usually accompanied...

A probable diagnosis of von Hippel-Lindau disease was made in a two generation family in which the proband had a phaeochromocytoma, renal cysts, and multiple cerebral cavernomas. His sister had multiple similar cerebral vascular lesions and his father died from renal carcinoma aged 42. Although the family did not satisfy the conventional diagnostic criteria for von Hippel-Lindau disease, an und...

Extra-adrenal pheochromocytomas are termed paragangliomas. Paragangliomas in the mediastinum, especially the superior mediastinum, are extremely rare. It is known that paragangliomas or pheochromocytomas occur in combination with von Hippel-Lindau syndrome. We present the case of a non-functional superior mediastinal paraganglioma in a patient with von Hippel-Lindau syndrome, without a familial...

OBJECTIVES Haemangioblastoma of the CNS occurs as a sporadic entity and as a manifestation of the autosomal dominant von Hippel-Lindau disease with the major additional components retinal angioma, renal cancer, and pheochromocytoma. Genetic testing for germline mutations predisposing to von Hippel-Lindau disease has been available since identification of the VHL tumour suppressor gene. The impa...

Keratoplasty is considered the most successful organ transplantation procedure in the world. Reisinger was the first to use the term keratoplasty (Reisinger, 1824), when he suggested using an animal’s eye to provide donor corneal tissue for corneal transplantation in a human. In 1906, the first successful penetrating keratoplasty was performed by Edward Konrad Zirm on a patient suffering from b...

The biology and pathogenesis of clear cell carcinoma of the kidney has been extensively investgated, and the role of von Hipple-Landau gene inactivation and tumor associated angiogenesis is now recognized. Development of vascular endothelial growth factor inhibitors and phase 3 clinical trials utilizing this class of agents has produced a new treatment paradigm for patients with metastatic rena...

Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who ...

BACKGROUND Von Hippel Lindau disease is an autosomal dominant multisystem/multitumoral cancer disease diagnosed by clinical, radiologic and genetic findings. Its prevalence has been estimated to be of 1/36000 inhabitants. The tumours can be benign or malignant. CASE REPORT We represent MR findings of a family with ten children. Mother and five siblings had von Hippel-Lindau disease. CONCLUS...

Von Hippel-Lindau disease (VHL disease) is a hereditary cancer predisposition syndrome caused by mutations of the von Hippel-Lindau tumor suppressor gene. The gene product, pVHL, regulates the level of proteins that play a central role in protecting cells against hypoxia. Clinical hallmarks of von Hippel-Lindau disease are the development of central nervous system hemangioblastomas, renal cell ...