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

J Pediatr Endocrinol Metab. 2011;24(1-2):109-12. doi: 10.1515/jpem.2011.118.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms / complications
  • Adrenal Gland Neoplasms / diagnosis
  • Adrenal Gland Neoplasms / genetics
  • Adult
  • Cerebellar Neoplasms / complications
  • Cerebellar Neoplasms / diagnosis
  • Child
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data*
  • Hemangioblastoma / complications
  • Hemangioblastoma / diagnosis
  • Humans
  • Male
  • Pedigree
  • Pheochromocytoma / complications
  • Pheochromocytoma / diagnosis
  • Pheochromocytoma / genetics
  • Retinal Neoplasms / complications
  • Retinal Neoplasms / diagnosis
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics
  • Young Adult
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / genetics


  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human