Diffuse Pancreatic Cystic Disease as the Initial Phenotypic Clue to Von Hippel-Lindau Syndrome

Introduction: Von Hippel-Lindau syndrome (VHL) is a rare autosomal dominant tumour predisposition syndrome with highly variable clinical expression. Pancreatic cystic lesions are common in VHL, but they are often incidental and only occasionally represent the initial clue to diagnosis. Methods: We report the case of a 29-year-old woman who presented with intermittent pelvic pain. Clinical examination disclosed epigastric fullness. Pelvic ultrasonography suggested a septated ovarian cyst. Magnetic resonance imaging revealed hydrocephalus, diffuse multifocal pancreatic cystic lesions, and a large pelvic cystic lesion corresponding to an ovarian cyst. The patient underwent laparoscopic ovarian cystectomy and cholecystectomy. Histopathological examination showed a benign serous papillary cystadenoma. Results: Because the association of diffuse pancreatic cystic disease and neurologic imaging abnormalities in a young adult was unusual, an inherited tumour syndrome was suspected. Molecular analysis identified a heterozygous pathogenic VHL variant, NM_000551.4(VHL):c.500G>A (p.Arg167Gln), confirming the diagnosis of VHL syndrome. Conclusion: This case highlights that diffuse pancreatic cystic disease may represent the initial phenotypic clue to VHL syndrome and underlines the diagnostic value of syndromic pattern recognition in young adults, with important implications for surveillance and genetic counselling.