A 17-year old man presented with palpitations, headache and diaphoresis after micturition and macroscopic haematuria. His plasma normetadrenaline levels were grossly elevated (15000 pmol/L) indicative of a paraganglioma. His paternal uncle had a mediastinal paraganglioma at age 22 and his paternal grandfather had a renal cell carcinoma at age 70. Computed tomography (CT) scans showed a bladder wall tumour, para-aortic mass, right hydronephrosis, and an 8 mm left lung base lesion. A 18F-fluorodeoxyglucose (FDG) positron emission (PET) CT scan confirmed FDG avid lesions in the bladder, the pelvis and the aorto-caval region. Only the latter was clearly visible on 123I-metaiodobenzylguanidine scintigraphy. After pre-operative alpha- and beta-adrenergic receptor blockade, right ureteronephrectomy, partial cystectomy and resection of the aorto-caval and para-iliac vessel masses was performed. Histopathology confirmed multiple paragangliomas. There were no tumour-positive lymph nodes and immunohistochemistry staining for succinate dehydrogenase (SDH) B was absent, suggesting a germline mutation in either the SDHB, SDHC or SDHD gene. He is booked for a post-operative gallium PET scan to assess presence of residual tumour masses.
Bladder paraganglioma is a rare form of paraganglioma. One-third of patients with a phaeochromocytoma or paraganglioma are thought to have a germline mutation in one of the known susceptibility genes. In this case, a hereditary cause is strongly suspected because of his young age, the presence of multifocal disease and a positive family history. Which genetic mutations to test for depends on tumour location, biochemical profile and immunohistochemistry. Genetic counselling is warranted once a germline mutation has been confirmed.