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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

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Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient

Nazlı Gonc1 / 1 / Hartmut P.H. Neumann2 / Huseyin Demirbilek1 / Alev Ozon1 / Ayfer Alikasifoglu1 / Nurgun Kandemir1

1Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey

2Section of Preventive Medicine, Department of Nephrology and General Medicine, Preventive Medicine Unit, Albert-Ludwigs-University of Freiburg, Freiburg, Germany

Corresponding author: Ozlem Engiz, Yesilvadi sok Konut Kuleleri, B Blok 39/22 Dikmen, 06450 Ankara, Turkey Phone: +90-312-3051124, Fax: +90-312-3121809

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 1-2, Pages 109–112, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2011.118, March 2011

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Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL.

Keywords: pheochromocytoma; screening; Von Hippel-Lindau disease

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