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Erschienen in:
21.05.2022 | Images in Surgery
An Amazing Image of Von Hippel–Lindau Syndrome
Erschienen in: Indian Journal of Surgery | Ausgabe 2/2023
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A 49-year-old woman presented with a 2-week history of painless jaundice and pruritus. She had a medical history of three surgical excisions of cerebellar hemangioblastomas and diabetes mellitus for 20 years. Physical examination revealed icteric sclera and a palpable mass about 4 × 4 cm in the epigastric abdomen. Laboratory investigations showed moderate anemia and severe hypercholesterolemia. Liver function tests were in keeping with an obstructive jaundice, with a bilirubin of 61.4 μmol/L (range, 5.1–25), alkaline phosphatase of 1313 U/L (range, 35–100), and a gamma-glutamyl transpeptidase of 780 U/L (range, 7–45). A full liver etiology screen was negative. The computed tomography scan of the abdomen showed bilateral renal cysts and a “honeycomb appearance” of the pancreas with numerous pancreatic cysts accompanied by multiple calcifications, dilatation of the intra- and extra-hepatic bile ducts, and space-occupying lesion of the spleen. Based on these findings and her past medical history, she was diagnosed with Von Hippel–Lindau (VHL) syndrome. Unfortunately, the patient died during hospitalization from cerebral hemorrhage so she had no molecular genetic analysis.