Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

Pediatr Nephrol. 2009 Jun;24(6):1239-42. doi: 10.1007/s00467-008-1111-8. Epub 2009 Feb 3.

Abstract

Several studies have shown that patients with succinate dehydrogenase subunit B (SDHB) mutations have a very high risk for developing malignant paragangliomas. However, there is no consensus of what age screening for paragangliomas should start. We report a case of an 8-year-old white girl with a 3-year history of catecholamine excess-related complaints who was diagnosed with a malignant SDHB-associated mediastinal paraganglioma. The patient presented with intermittent sweating, headache, nausea, vomiting, fatigue and weight loss that had been present since she was 5 years of age. A large posterior mediastinal mass measuring 6.4 cm x 3.1 cm x 4.6 cm was discovered on computed tomography (CT) and magnetic resonance imaging (MRI). Laboratory data included an elevated level of urine normetanephrine of 45,400 microg/g creatinine (upper reference limit 718 microg/g) and elevated level of plasma normetanephrine of 62.4 nmol/l (upper reference limit <0.90 nmol/l). She was diagnosed with a thoracic paraganglioma and subsequently underwent surgical removal of the tumor and two lymph nodes. Histopathologic examination confirmed metastatic paraganglioma. Postoperatively, her blood pressure normalized and plasma normetanephrine levels remained normal. Our patient first presented with paraganglioma-associated signs and symptoms at the young age of 5 years. This case clearly illustrates the need for increased vigilance and screening for paragangliomas in families with SDHB at a younger age than previously thought.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Follow-Up Studies
  • Genetic Testing / methods*
  • Humans
  • Mediastinal Neoplasms / diagnostic imaging
  • Mediastinal Neoplasms / genetics
  • Mediastinal Neoplasms / pathology*
  • Mutation
  • Paraganglioma / genetics*
  • Paraganglioma / pathology
  • Paraganglioma / secondary
  • Paraganglioma, Extra-Adrenal / diagnostic imaging
  • Paraganglioma, Extra-Adrenal / genetics
  • Paraganglioma, Extra-Adrenal / pathology*
  • Practice Guidelines as Topic
  • Radiography
  • Succinate Dehydrogenase / genetics*
  • Time Factors

Substances

  • SDHB protein, human
  • Succinate Dehydrogenase