Familial Paragangliomas: Case Report and Literature Review |
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| Institution: | 1. Divisions of Gastroenterologic and General Surgery, Rochester, Minnesota;2. Divisions of Cardiothoracic Surgery, Rochester, Minnesota;3. Divisions of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic Rochester, Rochester, Minnesota;4. Mayo School of Graduate Medical Education, Rochester, Minnesota;1. Division of Medical Genetics, Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA;2. Department of Pathology, Box 3712, Duke University Health System, Durham, NC 27710, USA;1. New York University Cancer Institute, New York, NY, USA;2. Department of Oncology, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;3. Instituto Oncologico Veneto – IRCCS, Padova, Italy;4. Department of Pathology, School of Medicine, University of Melbourne, Parkville, Victoria, Australia;5. Faculty of Medicine in the Galilee, Bar Ilan University, Safid, Israel;1. Serviço de Neurologia, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal;2. Sector de Neuropediatria-CDC, Hospital Pediátrico (Centro Hospitalar Universitário de Coimbra), Av. Afonso Romão, 3000-602 Coimbra, Portugal;3. Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal;4. Centro Hospitalar de São João, Alameda do Professor Hernâni Monteiro, 4200-319 Porto, Portugal;5. Serviço de Neuropediatria, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal;6. Serviço de Neurologia, Hospital Fernando da Fonseca, IC 19, 2720-276 Amadora, Portugal;7. Serviço de Neurologia, Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal;8. Serviço de Neurologia, Hospital Braga, Sete Fontes – São Victor, 4710-243 Braga, Portugal;9. Serviço de Neurologia, Centro Hospitalar do Funchal, Av. Luís de Camões, Funchal, Madeira 9004-514, Portugal;10. Serviço de Neurologia, Hospital de Faro (Centro Hospitalar do Algarve), R. Leão Penedo, 8000-386 Faro, Portugal;11. Serviço de Neurologia, Hospital Egas Moniz (Centro Hospitalar de Lisboa Ocidental), Rua da Junqueira 126, 1349-019 Lisboa, Portugal;12. Unidade de Neurofisiologia Clínica, Hospital de São José (Centro Hospitalar de Lisboa Central), Rua José António Serrano, 1150-199 Lisboa, Portugal;13. Serviço de Neurologia, Hospital Dona Estefânia (Centro Hospitalar de Lisboa Central), Rua Jacinto Marto, 1169-045 Lisboa, Portugal;14. Unidade de Neuropediatria, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal;15. Serviço de Neurologia, Hospital dos Capuchos (Centro Hospitalar de Lisboa Central), Alameda de Santo António dos Capuchos, 1169-050 Lisboa, Portugal;p. Centro de Genética Médica Doutor Jacinto Magalhães (Centro Hospitalar do Porto), Praça Pedro Nunes, n. 88, 4099-028 Porto, Portugal |
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| Abstract: | ObjectiveTo report a case of a woman with poorly controlled hypertension who was found to have multiple paragangliomas and mutation in the B subunit of succinate dehydrogenase (mitochondrial complex II).MethodsThe pathogenesis of familial paragangliomas and case management are discussed, and the relevant literature is reviewed.ResultsIn a 68-year-old woman with a long-term history of hypertension, bilateral carotid body paragangliomas had been resected at 24 and 57 years of age. Current laboratory studies showed an elevated plasma normetanephrine level. Computed tomography and magnetic resonance imaging revealed 3 paragangliomas—1 in the middle mediastinum and 2 intra-abdominally. Surgical excision involved a 2-stage procedure with the patient under the same general anesthesia: (1) a median sternotomy without cardiopulmonary bypass and (2) a midline celiotomy for removal of the retroperitoneal paragangliomas. All 3 tumors were focally adherent to adjacent structures (the left atrium, the uncinate process of the pancreas, and the left renal vessels). All tumors were completely excised without complication, and frozen section analysis confirmed that they were paragangliomas. Genetic testing disclosed a germline mutation in SDHB.ConclusionFamilial paraganglioma is a rare autosomal dominant, tumorigenic disorder affecting sympathetic and parasympathetic paraganglia. (Endocr Pract. 2008;14:603-606) |
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