CASE REPORT Multiple Paragangliomas with Novel Mutation: A Rare Entity Jnaneshwari Jayaram 1 , Anita Dhar 2 , Suneha Kumari 3 , Kanika Sharma 4 , Hemant Sachani 5 , Shamim Ahmed Shamim 6 , Mehar Chand Sharma 7 , Anurag Srivastava 8 A BSTRACT 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. Keywords: Carotid body tumor, Novel mutation, Paraganglioma, Succinate dehydrogenase. Indian Journal of Endocrine Surgery and Research (2022): 10.5005/jp-journals-10088-11182 B ACKGROUND Paragangliomas are rare extra-adrenal tumors arising from paraganglia seen in relation to the sympathetic/parasympathetic chain in the head, neck, thorax, and abdomen. 1 Head and neck paragangliomas are slow-growing tumors (0.6%) and rarely secrete catecholamines (4–5%) hence nonfunctional. 2 These tumors occur near arteries and cranial nerves of branchial arches therefore close to carotid vessels and cranial nerves (X–XII). Most commonly arising from the carotid body, followed by the jugular bulb, vagus nerve, and tympanic plexus. The following section provides the description of a case of multiple paragangliomas presenting with bilateral carotid body tumors, prevertebral (rare), and mediastinal lesions with SDH-D novel genetic mutation. C ASE D ESCRIPTION A gentleman aged 37 years came with complaints of painless, nonprogressive swelling on the right side of the neck for 20 years. Painful and gradually increased in size for last 2 years with no other complaints. He was not a known hypertensive. No similar complaints in the family members. On examination, his pulse was 80 beats/minute, and his blood pressure was 130/90 mm Hg. On the right side of the neck, there was a 6 × 5 cm soft, nontender, smooth surface, pulsatile swelling located deep to sternocleidomastoid muscle at the level of thyroid cartilage (Fig. 1 ). There was no other palpable swelling. Systemic examination was normal. Ultrasound of the neck showed a hypoechoic lesion with cystic spaces arising in between internal and external carotid arteries confrming as CBT. Hormonal profle including 24 hours. Urine metanephrines and normetanephrines, PTH, TFT, and cortisol were normal. Because of the elevated blood pressure, α-blocker (prazosin) was started at the low dose of 5 mg/day and increased to 7.5 mg/day in a divided dose along with 4–5 liters of water intake and 5 mg of salt. β blocker (propranolol 20 mg twice daily) was started for tachycardia. Functional imaging by 68-Ga DOTANOC PET-CT showed multiple areas of increased © The Author(s). 2022 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons. org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. 1–4,8 Department of Surgical Disciplines, All India Institute of Medical Sciences, New Delhi, India 5,6 Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India 7 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India Corresponding Author: Jnaneshwari Jayaram, Department of Surgical Disciplines, All India Institute of Medical Sciences, New Delhi, India, Phone: +91 9742954025, e-mail: jnaneshwari.j@gmail.com How to cite this article: Jayaram J, Dhar A, Kumari S, et al. Multiple Paragangliomas with Novel Mutation: A Rare Entity. Indian J Endoc Surg Res 2022;17(1):17–20. Source of support: Nil Confict of interest: None Fig. 1: Right side of the neck showing a 6 × 5 cm soft, nontender, pulsatile mass deep to sternocleidomastoid muscle