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Revista médica de Chile

Print version ISSN 0034-9887

Abstract

DIAZ, René E et al. Multiple paragangliomas associated to a SDHB gene mutation: Report of one case. Rev. méd. Chile [online]. 2011, vol.139, n.11, pp.1475-1480. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872011001100013.

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 dehydroge-nase 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 para-ganglioma 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).

Keywords : Gene; Germ-line ; mutation; Paraganglioma; Pheochromocytoma; Succinate dehydrogenase.

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