A Recurrent Tympanicum Paraganglioma With a SDHD Pathogenic Variant: First Reported Case

Abstract

ABSTRACT Objective The aim of this study is to describe a clinical case of a SDHD germline mutation associated tympanic paraganglioma (TPGL). Patients A female patient seen in the otology clinic at a tertiary care center with a diagnosis of tympanic paraganglioma and significant family history of head and neck paragangliomas. Intervention Surgery and genetic management. Main Outcome Measurements We describe the patient's clinical course and discuss the implications of genetic result on management. Results The patient was diagnosed with a pathogenic variant of SDHD gene before the presentation of a tympanic paraganglioma. Her clinical course was complicated by locally aggressive and recurrent disease including ossicular erosion, tympanic membrane perforation, and cholesteatoma. Conclusion This is a case of a SDHD associated tympanic paraganglioma, and the SDHD TPGL case to demonstrate recurrence. Such cases require multidisciplinary care for active surveillance of tumor development.