title: [Multiple paragangliomas associated to a SDHB gene mutation: report of one case].
abstract: Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydrogenase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with paraganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).
authors.affiliation: Sección Endocrinología, Hospital del Salvador, Santiago, Chile. diaztorres77@gmail.com
authors.forename: René E
authors.initials: RE
authors.lastname: Díaz
authors.forename: Carlos
authors.initials: C
authors.lastname: Utreras
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Ascuí
authors.forename: Fernando
authors.initials: F
authors.lastname: Hidalgo
authors.forename: Jesús
authors.initials: J
authors.lastname: Véliz
authors.forename: Nelson
authors.initials: N
authors.lastname: Wohllk
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics*; D010375:Pedigree; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: C108095:SDHB protein, human; D013385:Succinate Dehydrogenase