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

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.