Keywords :
Carotid body tumor, Novel mutation, Paraganglioma, Succinate dehydrogenase
Citation Information :
Jayaram J, Dhar A, Kumari S, Sharma K, Sachani H, Shamim SA, Sharma MC, Srivastava A. Multiple Paragangliomas with Novel Mutation: A Rare Entity. 2022; 17 (1):17-20.
Head and neck paragangliomas (HNPGLs) are rare, rarely functional tumors known to have a genetic predisposition. Carotid body tumors (CBT) are the most common HNPGLs followed by jugular bulb tumors, vagus nerve, and tympanic plexus. The prevertebral region is not the known area for these tumors as seen in our case making it a rare case. Mutations in SDH-D linked genes are commonly associated with multiple HNPGLs. SDH-D mutations with single-gene deletion are rare as seen in the present case. Bilateral carotid body tumors need to be managed in a staged manner. Patients with HNPGLs need annual clinical, hormonal, and radiological, surveillance for early diagnosis and management. First-degree relatives, especially males, need surveillance as SDH-D mutations exhibit maternal imprinting. We describe here the management of a middle-aged male who came with neck swelling on evaluation and was found to have nonfunctional bilateral carotid body tumors, mediastinal, and a rare prevertebral tiny lesion.
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