Bladder Paraganglioma Associated With Succinate Dehydrogenase a Mutation Presenting as Pelvic Pain

Document Type

Article

Publication Date

1-11-2023

Publication Title

JCEM Case Reports

Abstract

A 21-year-old female presented to the hospital with acute onset left pelvic pain that began while urinating. Ultrasound of the pelvis revealed a 1.7 cm structure within the bladder wall. Follow-up imaging with magnetic resonance imaging confirmed a 1.9 cm mass in the urinary bladder wall. Cystoscopy with transurethral resection was performed. Histopathology of the obtained tissue confirmed the diagnosis of paraganglioma. Laboratory evaluation revealed evidence of catecholamine excess with elevated urine norepinephrine, urine normetanephrine, and plasma free normetanephrine. Functional imaging with Ga-DOTATATE positron emission tomography-computed tomography (PET-CT) revealed increased uptake in the region of the known mass without findings of metastasis. Genetic testing revealed succinate dehydrogenase A mutation, consistent with paraganglioma syndrome 5. The patient was treated with alpha-adrenergic blockade prior to partial cystectomy. Urinary bladder paraganglioma is a rare entity. The diagnosis requires a high index of clinical suspicion due to variable presentation. Hypertension and other signs of catecholamine excess, especially in relation to micturition, are important clues. Despite evidence of catecholamine excess in most patients with bladder paraganglioma, the majority are diagnosed after biopsy, indicating a need for improved diagnostic strategies in this patient population. Early diagnosis and treatment are essential to prevent potentially lethal cardiac complications and tumor metastasis.

Volume

1

Issue

1

First Page

luac026

DOI

10.1210/jcemcr/luac026

ISSN

2755-1520

PubMed ID

37908258

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