MRI protocols for the screening of manifestations of von Hippel Lindau disease in the at risk and/or genetically proven population
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Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
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...
متن کاملThe impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
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...
متن کاملVon Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerab...
متن کاملRenal Tumors in Patients with von Hippel-Lindau Disease: “State of Art Review”
The disease that has perpetuated the names of two prestigious European physicians, Eugen von Hippel and Arvid Lindau, is a familial syndrome characterised by the occurrence of highly vascular tumours in different organs1. Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant genetic disease (Online Mendelian Inheritance in Man 193300) that is estimated to occur in 1/36,000 live births a...
متن کاملManagement of von hippel-lindau disease: an interdisciplinary review.
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumour predisposition syndrome with an incidence of 1:36,000 newborns, the estimated prevalence in Europe is about 1-9/100,000. It is associated with an increased risk of developing various benign and malignant tumours, thus affecting multiple organs at different time points in the life of a patient. Disease severity and diver...
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