Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene

J Pediatr Hematol Oncol. 2002 Feb;24(2):145-8. doi: 10.1097/00043426-200202000-00018.

Abstract

Pheochromocytomas are frequently associated with inherited cancer syndromes such as von Hippel-Lindau disease (VHL). Retinal angioma and hemangioblastomas of the central nervous system are hallmarks of VHL, but its clinical variety is remarkably broad. Pheochromocytomas as the sole or first manifestation of VHL are rare but have been observed. In this case report, the authors describe an unusual case of initial collapse, seizures, and hypertensive crisis in a child who later was found to have multiple extraadrenal pheochromocytomas. Molecular diagnostics revealed a novel point mutation in the VHL gene (VHL nt. 406 T-->G). Only 7 months after the first lesions had been removed, a new paraganglioma developed in the contralateral periadrenal region. When encountering pheochromocytomas in children, the clinician should be aware that an associated tumor syndrome might be present, and appropriate molecular screening should be initiated. Molecular genetics aid in the clinical decision-making and clinical management of individual patients with pheochromocytoma.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Neoplasms / genetics*
  • Amino Acid Substitution*
  • Child
  • Codon / genetics
  • Diagnosis, Differential
  • Humans
  • Hypertension / etiology
  • Ligases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Neuroblastoma / diagnosis
  • Paraganglioma, Extra-Adrenal / genetics*
  • Point Mutation*
  • Seizures / etiology
  • Thoracic Neoplasms / genetics*
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics*

Substances

  • Codon
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human