World Journal of Endocrine Surgery

Register      Login

VOLUME 1 , ISSUE 1 ( September-December, 2009 ) > List of Articles

CASE REPORT

Diagnosis of von Hippel-Lindau Syndrome Following Endoscopic Ultrasound of the Pancreas

Jennifer Cannon, Paul G Gauger, Gerard M Doherty, James M Scheiman

Citation Information : Cannon J, Gauger PG, Doherty GM, Scheiman JM. Diagnosis of von Hippel-Lindau Syndrome Following Endoscopic Ultrasound of the Pancreas. World J Endoc Surg 2009; 1 (1):41-42.

DOI: 10.5005/jp-journals-10002-1009

Published Online: 01-08-2012

Copyright Statement:  Copyright © 2009; The Author(s).


Abstract

Objective

To report a case of von Hippel-Lindau (VHL) syndrome diagnosed by endoscopic ultrasound (EUS) of the pancreas in a patient with no family history of the disease and without any other clinical manifestations of VHL.

Methods

We describe the clinical presentation of the case and discuss its management.

Results

A 33-year-old woman was evaluated by EUS for possible pancreatic carcinoma. Based upon the sonographic appearance of her pancreas, VHL was suggested as a diagnosis and subsequently confirmed by genetic testing. The pancreatic lesions were treated surgically and pathology revealed pancreatic islet cell tumors.

Conclusion

This is the first report of a patient in which the first suggestion of a VHL diagnosis was made on EUS appearance of pancreatic lesions alone.


PDF Share
  1. Endocr Relat Cancer 2006;13:415-25.
  2. von Hippel-Lindau disease: A genetic study. J Med Genet 1991;28:443-47.
  3. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Gen 1995;4:2139-43.
  4. Pancreatic involvement in von Hippel-Lindau disease. Gastroenterology 2000;119:1087-95.
  5. When to look for von Hippel-Lindau disease in gastroenteropancreatic neuroendocrine tumors? Neuroendocrinology 2004;80(suppl 1):39-46.
  6. Image of the Month: von Hippel-Lindau disease. Gastroenterology 2001;120:788-1058.
  7. Pancreatic involvement in von Hippel-Lindau disease: Report of two cases and review of the literature. Am J Gastroenterol 2006;101:2655-58.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.