Abstract
Phaeochromocytomas usually occur sporadically but may be associated with dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau disease (VHL) and type 1 neurofibromatosis. We report on a boy presenting at age 8 years with an isolated benign phaeochromocytoma of the left adrenal. Three years later a second adrenal phaeochromocytoma was diagnosed on the right side and removed. His family history was negative. Genetic analysis did not show a mutation in the MEN 2 susceptible proto-oncogene rearranged during transfection; however, we found a germline missense mutation in the VHL gene (nucleotide 695 G to A transversion) which has been described only twice before in the literature. Both parents had normal (wild type) VHL copies indicating that our patient had a de novo germline VHL mutation. Careful clinical evaluation of the patient at 18 years did not reveal any other manifestations of VHL disease.
Conclusion Carriers of von Hippel-Lindau germline mutations can present with a form fruste of von Hippel-Lindau disease presenting initially with unilateral phaeo-chromocytoma and therefore mutation analysis should be carried out.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 21 June 2000 and in revised form: 18 February 2001 / Accepted: 20 February 2001
Rights and permissions
About this article
Cite this article
Frenzel, S., Apel, T., Heidemann, P. et al. Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease. Eur J Pediatr 160, 421–424 (2001). https://doi.org/10.1007/s004310100758
Issue Date:
DOI: https://doi.org/10.1007/s004310100758