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ISSN: Print -2349-0977, Online - 2349-4387
Year : 2015  |  Volume : 2  |  Issue : 3  |  Page : 136-140

Imaging spectrum of von hippel–lindau disease

1 Department of Radiodiagnosis, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
2 Department of Surgery, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India

Correspondence Address:
Amita Malik
A-302, Manas Apartments, Mayur Vihar Phase-1, New Delhi -110 091
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2349-0977.181505

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Von Hippel–Lindau (VHL) disease is a rare phakomatosis with autosomal dominant inheritance. It is the result of inactivation of tumor suppressor gene located on short arm of chromosome 3 and is characterized by the development of a variety of benign and malignant tumors of various organs. These include retinal and central nervous system hemangioblastomas, renal cysts and renal cell carcinoma, pheochromocytomas, pancreatic cysts and tumors, epididymal cystadenoma, and ductal ectasia of rete testis. Imaging plays a key role in the diagnosis of VHL disease. It is also useful for screening of patients with family history of VHL disease and in follow-up after treatment. This coupled with advanced surgical management helps in reducing the morbidity and mortality in VHL. The aim of this pictorial essay is to demonstrate the imaging spectrum of VHL disease.

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