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A Recurrent Tympanicum Paraganglioma With a SDHD Pathogenic Variant: First Reported Case
Alex Z Graboyes1, Kevin Wong1, Yonghong Huan2
1Department of Otorhinolaryngology, Head and Neck Surgery University of Pennsylvania Philadelphia Pennsylvania USA.
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.
