Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
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).
Main Authors: | Díaz,René E, Utreras,Carlos, Ascuí,Rodrigo, Hidalgo,Fernando, Véliz,Jesús, Wohllk,Nelson |
---|---|
Format: | Digital revista |
Language: | Spanish / Castilian |
Published: |
Sociedad Médica de Santiago
2011
|
Online Access: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001100013 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Insuficiencia suprarrenal y crisis addisoniana como primera manifestación de cáncer de pulmón y metástasis suprarrenal bilateral: Caso clínico
by: Utreras,Carlos, et al.
Published: (2011) -
Malignant paraganglioma in an African patient associated with a succinate dehydrogenase subunit B (SDHB) mutation
by: Shone,Dennis, et al.
Published: (2018) -
Sunitinib in the therapy of malignant paragangliomas: report on the efficacy in a SDHB mutation carrier and review of the literature
by: Canu,Letizia, et al.
Published: (2017) -
Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
by: Pollak C.,Felipe, et al.
Published: (2017) -
Síndrome nefrótico congénito por mutación del gen de la nefrina: Caso clínico
by: Azócar P,Marta
Published: (2011)