A case report of familial paraganglioma syndrome type 4 caused by the SDHB mutation gene

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Introduction: Paraganglioma type 4 syndrome is associated with SDHB mutation with a higher risk of malignancy.

Aim(s): Clinical case presentation: We describe a case of a 40-year-old male experiencing uncontrolled hypertension with a 10-year history of para-aortic paraganglioma and a family history of cervical tumor of unknown histology (father) and hypertension (brother-mid 30s).

Materials and methods: The biochemical evaluation showed high levels of plasma free normetanephrine (4732 pg/ml) and chromogranin A (990 ug⁄L). The CT scan identified a tumor of the urinary bladder (7,1/2,9cm) with the invasion of the prostate and seminal vesicles and right hydroureteronephrosis stage I. A total cystectomy was done with local lymph node excision and prostatovesiculectomy.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Ciobanu O, Lambrescu I, Leca B, Nistor I, Martin S,

Keywords: paraganglioma, sdhb mutation,