World journal of otorhinolaryngology - head and neck surgery · 2026
A Recurrent Tympanicum Paraganglioma With a SDHD Pathogenic Variant: First Reported Case.
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Graboyes Alex Z, Wong Kevin, Huan Yonghong, Brant Jason A
Аннотация
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.
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.