Indian Journal of Nuclear Medicine
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CASE REPORT
Year : 2012  |  Volume : 27  |  Issue : 2  |  Page : 119-121

Fluorodeoxyglucose positron emission tomography-computed tomography scan in von Hippel-Lindau syndrome: A case report and review of literature


Spect Lab, Nuclear Medicine Services, Kothrud, Pune, Maharashtra, India

Correspondence Address:
Shrikant Solav
Spect Lab, Nuclear Medicine Services, K 2/1 Erandawana Co-op Society, Near Mhatre Bridge, Pune - 411 004, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-3919.110711

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Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disorder caused by defective tumor suppression gene at 3p25-p26. The gene for VHL disease is found on chromosome 3, and is inherited in a dominant fashion. The VHL gene is a tumor suppressor gene. This means that its role in a normal cell is to stop the uncontrolled growth and proliferation. It is characterized by abnormal growth of blood vessels. It strikes the eyes, central nervous system, kidneys, endocrine glands, etc. It predisposes the patient to retinal angiomas, central nervous system hemangioblastoma, renal cell carcinoma (RCC), pheochromocytomas, islet cell tumor of the pancreas, endolymphatic sac tumors, renal, pancreatic, epididymal cysts. We present a case of familial VHL syndrome whose Fluorine 18-fluorodeoxyglucose positron emission tomography-computed tomography scan was truly positive for adrenal pheochromocytoma but was falsely negative for RCC. Review of literature related to this entity is made.


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