Endocrine Abstracts

Introduction: Extra adrenal paraganglioma (PGL) account for approximately 15% of all pheochromocytoma. Urinary bladder & mediastinum are rarest form of PGL. We present a case of bladder &Mediastinal PGL with a novel mutation in exon 1 of SDHB gene.

Case Report: 18 years old male patient was admitted with five years episodic symptoms of headache, sweating, and palpitations, especially after urination. He also complained of postural dizziness for last 6 months. He was admitted in some other hospital and was found to have labile blood pressure. His blood pressure readings varied from 210/120 mmHg to 80/50 mmHg. He was referred to our clinic for further investigations. His biochemical investigations showed elevated urinary 24 hour norepinephrine & metanephrines. MRI showed heterogeneously enhancing T2 hyperintense lesions of 7×4 cm in posterior mediastinum and 4.1×4.2 cm in urinary bladder, both of these lesions were confirmed in Ga68- DOTANOC imaging. He was operated with a collaborating team of urologist and thoracic surgeons. Post operatively, he developed hypotension and required ionotropic support for few days. Histopathological features were consistent with paraganglioma of both locations. Tumor cells were positive for synaptophysin & chromogranin & negative for cytokeratin. Patient is currently normotensive and asymptomatic after follow up of 10 months. The genetic analysis of the patient showed a novel 45A>G& 46D>G heterozygous germline mutation in SDHB exon-1.

Conclusion: Concurrence of urinary bladder PGL with mediastinum PGL has not been reported earlier to the best of our knowledge. We observed a novel 45A>G& 46D>G heterozygous germline mutation in SDHB gene in exon-1.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.