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Introduction: Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder characterized by the development of both neoplastic and cystic lesions in multiple organs, including the central nervous system (CNS), retina, kidneys, pancreas, and adrenal glands. Early detection and careful management are critical due to the potential for significant morbidity and mortality associated with this condition. Case Presentation: A 37-year-old man with a history of VHL presented with abdominal discomfort and hematuria. His medical history included surgical resection of a cerebellar hemangioblastoma 20 years ago and a retinal capillary hemangioma diagnosed 5 years ago. Genetic testing confirmed the presence of a pathogenic VHL variant. Abdominopelvic multidetector computed tomography revealed multiple pancreatic cysts, renal cysts, two enhancing renal lesions suggestive of renal cell carcinoma (RCC), and a retroperitoneal mass indicative of extra-adrenal paraganglioma. Biopsy confirmed the presence of clear cell RCC. The patient exhibited classic manifestations of VHL, including central nervous system hemangioblastomas, retinal hemangiomas, pancreatic cysts, RCC, and extra-adrenal paragangliomas. Conclusions This case highlights the diverse manifestations of VHL disease, including CNS hemangioblastomas, retinal hemangiomas, pancreatic cysts, RCC, and paragangliomas. The patient's comprehensive clinical, imaging, and histopathological evaluations met the diagnostic criteria for VHL. Regular screening and close follow-up are crucial to detect complications early, allowing for timely intervention and improved outcomes.
Introduction: Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder characterized by the development of both neoplastic and cystic lesions in multiple organs, including the central nervous system (CNS), retina, kidneys, pancreas, and adrenal glands. Early detection and careful management are critical due to the potential for significant morbidity and mortality associated with this condition. Case Presentation: A 37-year-old man with a history of VHL presented with abdominal discomfort and hematuria. His medical history included surgical resection of a cerebellar hemangioblastoma 20 years ago and a retinal capillary hemangioma diagnosed 5 years ago. Genetic testing confirmed the presence of a pathogenic VHL variant. Abdominopelvic multidetector computed tomography revealed multiple pancreatic cysts, renal cysts, two enhancing renal lesions suggestive of renal cell carcinoma (RCC), and a retroperitoneal mass indicative of extra-adrenal paraganglioma. Biopsy confirmed the presence of clear cell RCC. The patient exhibited classic manifestations of VHL, including central nervous system hemangioblastomas, retinal hemangiomas, pancreatic cysts, RCC, and extra-adrenal paragangliomas. Conclusions This case highlights the diverse manifestations of VHL disease, including CNS hemangioblastomas, retinal hemangiomas, pancreatic cysts, RCC, and paragangliomas. The patient's comprehensive clinical, imaging, and histopathological evaluations met the diagnostic criteria for VHL. Regular screening and close follow-up are crucial to detect complications early, allowing for timely intervention and improved outcomes.
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