title: A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.
abstract: BACKGROUND
  A 40-year-old man was referred to our clinic with recurrent paragangliomas. He had undergone resection of a paraganglioma superior to the right adrenal gland at 19 years of age, resection of two para-aortic paragangliomas at 39 years of age, and resection of a paraganglioma in the interatrial septum at 40 years. The patient's mother had died at age 39 years of metastases from a carotid body tumor.
  
  
  METHODS
  MRI and CT scanning, 131I-labeled metaiodobenzylguanidine scanning, and genetic testing for a mutation in the succinate dehydrogenase complex, subunit B gene.
  
  
  METHODS
  Familial paraganglioma syndrome type 4 caused by a mutation in the succinate dehydrogenase complex, subunit B gene.
  
  
  RESULTS
  The patient underwent two surgical procedures in our clinic. The first was to remove two para-aortic paragangliomas, and the second to remove a paraganglioma that involved both atria. The patient is at high risk for malignant disease and should undergo an annual monitoring program that consists of physical examination and measurement of his blood pressure and levels of urinary catecholamines and metanephrines. If these procedures suggest a recurrence of paraganglioma, 123I-labeled metaiodobenzylguanidine scanning should be performed. As he might develop nonfunctional tumors, however, he should also undergo CT scanning, MRI scanning, or both, of the neck, thorax, abdomen, and pelvis every 6-12 months. Genetic testing has been offered to family members.
authors.affiliation: Division of Endocrinology and Metabolism, Queen's University, Kingston, ON, Canada.
authors.forename: Aaron M
authors.initials: AM
authors.lastname: Drucker
authors.forename: Robyn L
authors.initials: RL
authors.lastname: Houlden
mesh_terms: D000328:Adult; D001013:Aorta, Thoracic / Q000000981:diagnostic imaging; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D010236:Paraganglioma, Extra-Adrenal / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D013902:Radiography, Thoracic; D011877:Radionuclide Imaging; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013577:Syndrome
chemical_list: D007506:Iron-Sulfur Proteins; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase