Abstract
Paragangliomas are abnormal growth cells of neuroectodermal origin that arise from the autonomic nervous system. Head and neck paragangliomas are rare, commonly benign and often have a hereditary origin. Head and neck paragangliomas most commonly arise in the carotid bodies, vagus and glossopharyngeal nerves, and the sympathetic chain. However, we present a case of a paraganglioma arising from the recurrent laryngeal nerve, a phenomenon that has been reported only three times before in the literature. The patient is a 49-year-old female with a past medical history of bilateral carotid body paragangliomas and Hashimoto's disease. She has a family history of paragangliomas in her father and distant relatives and carries a pathogenic variation in the succinate-dehydrogenate subunit D (SDHD) gene, which was first identified through the original linkage studies involving her family. She presented with a mild swelling sensation in her neck. A thyroid ultrasound revealed a right lobe nodule measuring 3.3 x 2.2 x 2.1 cm. Fine needle aspiration of the nodule revealed an atypia of undetermined significance with a risk of malignancy judged as 50%. A total thyroidectomy was performed due to concern for malignancy. During the operation, the thyroid was nodular and hypervascular. At the right thyroid lobe, there was a pearlescent tubular structure approximately 4-5 mm in size. This was stimulated via intraoperative nerve monitoring and was consistent with being a part of the right recurrent laryngeal nerve. Pathology of the tubular structure revealed a 2.8 cm paraganglioma of the right recurrent laryngeal nerve. An incidental 0.1 cm papillary thyroid microcarcinoma within the left thyroid lobe was also noted. Our patient presented with a history of paragangliomas at a very young age and bilaterality, features that are highly characteristic of hereditary disease. Through the original linkage studies involving her family, her father was recognized as being an obligate carrier at risk of bearing occult paragangliomas. Imaging showed that he carried three paragangliomas. Identification of the familial SDHD syndrome as well as SDHD testing has now become widely available. Recognizing hereditary paraganglioma and other cancer susceptibility syndromes can help foster more knowledge on the subject and improve clinical outcomes. More attention should be put on the presentation of paragangliomas in an atypical location, such as in our case.