Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene

J Pediatr Endocrinol Metab. 2013;26(3-4):369-72. doi: 10.1515/jpem-2012-0255.

Abstract

The association of hypertrophy with neoplasm is well-known. Pheochromocytoma is a rare neoplasm in children. Isolated hemihypertrophy and hemihypertrophy linked to other genetic disorders have rarely been associated with the development of pheochromocytoma, with only two cases reported to date. We report a novel case of a 4-year-old male with bilateral adrenal pheochromocytomas and lower extremity hemihypertrophy in the setting of von Hippel-Lindau syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Child, Preschool
  • Humans
  • Hyperplasia / genetics*
  • Leg / growth & development*
  • Male
  • Mutation, Missense
  • Pheochromocytoma / genetics*
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*
  • von Hippel-Lindau Disease / genetics*

Substances

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

Supplementary concepts

  • Hemihyperplasia, Isolated