Introduction: Von Hippel-Lindau (VHL) disease can be known as a rare autosomal dominant syndrome that affects some organ systems and is characterized by the growth of both benign and malignant tumors. Diagnosis and management of VHL were needed to have better outcomes.
Case presentation: A 39-year-old male with a history of VHL disease and positive family history presented with jaundice and pruritus. He had a history of craniotomy thrice. Laboratory workup revealed elevated total bilirubin level with conjugated bilirubin predominant. The contrast-enhanced MRI showed dilatation of biliary tree with suspicion of partial obstruction by multiple cysts in the pancreas, with ±0.5-5 cm in diameter. A PET/CT scan showed multiple lesions corresponding to VHL disease. The patient underwent total pancreatoduodenectomy. The histopathology finding was multicystic pancreatic hamartoma with neuroendocrine cell hyperplasia.
Clinical discussion: Multiple pancreatic cysts without prior pancreatic inflammatory episodes should suggest VHL disease and prompt a genetic test, according to clinical presentation. As soon as the diagnosis is made, all potential family members must be screened, and those who are affected must receive genetic counseling and strict follow-up care to treat the disease's potentially fatal CNS and visceral manifestations. Total pancreatoduodenectomy was performed according to jaundice, risk of pancreas malignancy, and the existence of endocrine pancreatic insufficiency.
Conclusion: Total pancreatoduodenectomy could be performed to relieve the symptom severity and avoid the possibility of malignant changes in VHL.
Keywords: Case report; Pancreatic cyst; Total pancreatoduodenectomy; von Hippel-Lindau disease.
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