Paragangliomas múltiples asociados a mutación del gen SDHB. Caso clínico.
Palabras clave:
Gene, Germ-line mutation, Paraganglioma, Pheochromocytoma, Succinate dehydrogenaseResumen
MULTIPLE PARAGANGLIOMAS ASSOCIATED TO A SDHB GENE MUTATION. REPORT OF ONE CASE
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).
