Incidental diagnosis of von Hippel - Lindau syndrome revealed by new-onset diabetes mellitus

Phan Nguyen Nhat Linh, Vu Bich Nga, Nguyen Thi Thanh Huong, Nguyen Thi Ngoc Mai

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Abstract

Von Hippel - Lindau (VHL) syndrome is a rare autosomal dominant hereditary disorder caused by mutations in the VHL gene. It is characterized by the occurrence of tumors in multiple organs. Pancreatic involvement in VHL syndrome can present as pancreatic cysts or neuroendocrine tumors, potentially affecting endocrine pancreatic functions. We report a case of a young female patient newly diagnosed with diabetes mellitus, with dectection of multiple pancreatic cysts. Further imaging studies revealed a pancreatic neuroendocrine tumor and bilateral renal cell carcinomas. Clinical, genetic (mutation of the VHL gene) and imaging findings led to the diagnosis of Von Hippel - Lindau syndrome. This case highlights the importance of comprehensive evaluation when encountering atypical pancreatic lesions in patients with newly diagnosed diabetes mellitus.

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References

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