J Korean Surg Soc JKSS Journal of the Korean Surgical Society 1226-0053 The Korean Surgical Society 10.4174/jkss.2009.77.4.287 Case Report Pancreatic Cyst in von Hippel-Lindau Disease Sohn Bo Sung M.D. Cho Chung Eun M.D. Park Il Young M.D. Department of Surgery, Holy Family Hospital, The Catholic University of Korea, Bucheon, Korea. Corresponding author (parkiy@catholic.ac.kr) 10 2009 30 09 2009 77 4 287 290 21 03 2009 13 04 2009 Copyright © 2009 The Korean Surgical Society 2009

The von Hippel-Lindau (VHL) disease is an autosomal dominant disorder by germline mutation of VHL tumor suppressor gene. The affected patients mainly develop cancers of the central nervous system, renal cell carcinoma, pheochromocytoma, and pancreatic cysts. Pancreatic involvement was observed 12~77% in VHL patients and included true cysts, serous cystadenomas, and neuroendocrine tumors. We experienced two cases of pancreatic cyst of the von Hippel-Lindau disease and reviewed associated literatures.

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MRI (T2 weighted imaging); cystic mass in cerebellum (arrow).

Pedigree of Patients. Mother and two daughters are VHL gene positive. Mother and one daughter have pancreatic cysts. The other daughter has sensory neural hearing loss.

Gene study. Mother and two daughters have a mutation of 257 nucleotide.

Abdominal CT showed 1 cm sized pancreatic cyst in body and tail (arrow). There are no lesions in liver and spleen.

Brain MRI showed there was a cystic tumor in the inferior aspect of Lt. cerebellum by 3×4×3.5 cm size (arrow).

Abdominal CT findings are multiple cysts in pancreas head portion diameter 5 cm in size, with internal serous material (black arrow) and distal pancreas portion has multiple cysts (white arrow).