A Rare Case of Paraganglioma Syndrome Associated With Polycythemia and Blindness

TL;DR

A 44-year-old man with a rare combination of paraganglioma, polycythemia, and blindness highlights the importance of thorough medical history in diagnosis.

Contribution

This paper presents a rare case linking paraganglioma syndrome with polycythemia and congenital blindness.

Findings

The patient had synchronous pheochromocytoma and paraganglioma confirmed by histopathology.

Polycythemia was present since age 12 and was managed with phlebotomies.

The case emphasizes the need for detailed medical history in diagnosing complex syndromes.

Abstract

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors. They can be diagnosed independently or as part of a syndrome, especially with germline mutations. Rarely, a somatic mutation can present as part of a syndrome associated with recurrent PPGL, congenital polycythemia, and vascular malformation. We report a case of a 44-year-old man with a history of congenital blindness, stroke in utero, cerebral ataxia, and polycythemia since age 12, treated with phlebotomies who presented with back pain and hypertension. Abdominal computer tomography with IV contrast showed a right adrenal enhancing lesion measuring 1.4 x 1.2 cm and a conglomerate of heterogeneously enhancing periaortic lesions measuring up to 5 cm in the mid-abdomen. Biochemical workup revealed plasma free normetanephrine 27.5 nmol/L (0.00-0.89) and plasma free metanephrine 0.49 nmol/L (0.00-0.49). Histopathology confirmed synchronous pheochromocytoma and paraganglioma. This case illustrates the importance of taking a detailed past medical history and the relevance of polycythemia in the paraganglioma workup.

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