Paraganglioma in a young female. Are we missing a possible inherited aetiology? A case report

Background: Pheochromocytomas and paragangliomas are commonly associated with underlying inherited syndromes. Association is stronger at a younger age and with paragangliomas. Recognition of an inherited syndrome enables an individualised management approach.

Case presentation: An-18-year-old female presented with episodic headache, palpitations, sweating and recurrent episodes of fainting associated with hypertension for two years. Hypertension persisted even between paroxysms. Her parents are first cousins. There was no family history of tumours. She had marfanoid body habitus; otherwise, her physical examination was normal. Urine metanephrines were elevated, and CT-abdomen showed an avidly enhancing 3.2X2.7X4.3 cm mass with smooth margins in the left para-aortic area below the renal vessels suggesting paraganglioma. The whole-body MRI did not show other lesions. She underwent laparoscopic resection of the tumour. Histology confirmed paraganglioma. There was complete resolution of hypertension and paroxysms following surgery. Whole-exome sequencing from blood could not detect any mutations associated with paraganglioma. Post-operative urinary metanephrines after one year were normal.

Conclusions: This patient's presentation strongly suggests a possible underlying inherited syndrome despite the lack of recognition of an underlying genetic mutation previously reported to be associated with paraganglioma. While the search for similar patients would help recognise such associations, close surveillance for additional tumours and recurrence would be warranted for the patient as of a patient with inherited endocrine tumour syndrome.