Diagnostic Evaluation and Characterization of Von Hippel-Lindau (VHL) Syndrome by Functional Imaging (68Ga-DOTANOC, 99mTc-HYNIC-TOC, and 131I-MIBG)

Von Hippel-Lindau syndrome, an autosomal dominant genetic disorder with high penetrance, is a rare genetic cause of pheochromocytoma and various other tumors, such as hemangioblastomas of retina and cerebellum, renal cell carcinoma, islet cell tumors, endolymphatic sac tumors, etc. Conventionally, Von Hippel-Lindau is diagnosed with the help of biochemical and structural imagining techniques, such as magnetic resonance imaging and computed tomography scans. However, the recent advent of the functional imaging techniques, such as meta-iodo-benzylguanidine, has significantly added to the armamentarium available for the diagnosis as well as localization of these tumors. In this report, we describe a case of a 22-year-old male with VHL syndrome, where functional 68Ga-DOTANOC PET/CT, 99mTc-HYNIC-TOC SPECT/CT, and 131I-MIBG SPECT/CT aided in the diagnostic evaluation of this disease. This patient presented with bilateral pheochromocytoma, retinal angioma, cerebellar hemangioblastoma, pancreatic neuroendocrine tumor, and pancreatic cysts. This case highlights the emerging role of functional imaging as an adjuvant to conventional tools in the diagnostic evaluations of diseases, an area that has not been addressed to date.