Atypical jugulotympanic paraganglioma presentation, diagnostic challenges, and role of imaging: A case report

Abstract

BACKGROUND

Jugular paragangliomas (JPGLs) are rare, slow-growing neuroendocrine tumors originating from the adventitia of the vessels in the jugular foramen. They typically present with pulsatile tinnitus, conductive hearing loss, and lower cranial nerve palsies. However, atypical presentations can delay diagnosis, especially in resource-limited settings.

CASE SUMMARY

We report the case of a 76-year-old woman with a long-standing history of right-sided hearing loss, intermittent chronic painless ear discharge, and lower motor facial nerve palsy, who presented with acute mastoid pain and otorrhea. Her symptoms were initially attributed to malignant otitis externa, given her diabetic status and history of a canal wall-up mastoidectomy. However, further evaluation with high-resolution computed tomography and contrast-enhanced magnetic resonance imaging (MRI) revealed an expansile lesion involving the middle ear and temporal lobe, consistent with a JPGL. Notably, she lacked pulsatile tinnitus and jugular foramen syndrome, leading to a delay in appropriate imaging and diagnosis.

CONCLUSION

This case underscores the importance of maintaining a broad differential diagnosis in patients with atypical or progressive otologic symptoms, especially when cranial neuropathies are absent. Early use of contrast-enhanced MRI is essential for detecting retrocochlear and vascular tumors in patients with atypical presentations. Clinician awareness and adherence to imaging guidelines can prevent delayed diagnosis and optimize outcomes in patients with paragangliomas.

Key Words: Neurology; Neurosurgery; Paraganglioma; Delayed diagnosis; Contrast-enhanced magnetic resonance imaging; Glomus jugulare tumor; Case report

Core Tip: Jugular paragangliomas are rare skull base tumors that typically present with pulsatile tinnitus and lower cranial nerve palsies. This case highlights an atypical presentation marked by non-pulsatile tinnitus, sensorineural hearing loss, and isolated facial nerve involvement, leading to delayed diagnosis and intracranial extension. The report emphasizes the limitations of symptom-based diagnosis and underscores the critical role of early contrast-enhanced magnetic resonance imaging in patients with unilateral, progressive otologic symptoms to enable timely diagnosis and improved clinical outcomes.

INTRODUCTION

Paragangliomas are rare chromaffin cell tumors that arise from neural crest cells in the adventitia of blood vessels[1]. In the head and neck region, these tumors demonstrate a predilection for the jugular foramen [jugular paragangliomas (JPGLs)], middle ear cavity (tympanic paragangliomas), or combination (jugulotympanic paragangliomas), carotid body, and vagal nerve, with JPGLs being the second most common temporal bone tumors after vestibular schwannomas[2].

Although typically slow-growing and non-secretory, JPGLs can present with a wide range of symptoms based on their size and location[2]. Classic clinical features include pulsatile tinnitus, conductive hearing loss, and lower cranial nerve (CN) palsies (IX–XI), collectively referred to as jugular foramen syndrome[3]. However, in many patients, the presentation may be atypical, leading to significant diagnostic delays, often exceeding 4-6 years from symptom onset[4].

The diagnosis of JPGLs relies heavily on imaging, with contrast-enhanced magnetic resonance imaging (CEMRI) and computed tomography (CT) of the temporal bone playing complementary roles in identifying tumor extent, bony erosion, and vascular involvement[5]. Recent clinical guidelines recommend early CEMRI in patients presenting with sensorineural hearing loss (SNHL) and tinnitus, even in the absence of pulsatile symptoms or cranial neuropathies[6]. Failure to apply these criteria can result in missed or late diagnoses, as highlighted in this case. The current treatment protocol for paraganglioma involves a chemotherapy regimen consisting of cyclophosphamide, doxorubicin, and dacarbazine[7].

With surgical treatment, complete removal of the tumor is possible, often without recurrence. However, surgery carries a high risk of neurovascular complications, occurring in up to 60% of cases, most commonly CN injury and, less frequently, carotid artery damage. Radiotherapy serves as an alternative treatment for patients with head and neck paraganglioma (HNPGL). Rather than eradicating tumor cells, irradiation induces fibrosis and vascular sclerosis. Its primary objective is long-term local control, meaning stabilization of tumor volume without progression. Notably, radiotherapy can also lead to tumor regression, which may alleviate paraganglioma-associated symptoms.

CASE PRESENTATION

Chief complaints

A 76-year-old woman presented to the ear, nose, and throat clinic with a 4-day history of severe, throbbing right-sided mastoid pain, accompanied by purulent ear discharge and swelling over the right mastoid region.

History of present illness

The pain was acute in onset, progressive, and only partially relieved by over-the-counter analgesics. The discharge was moderate in amount, whitish-yellow, foul-smelling, and occasionally stained her pillow at night. Associated symptoms included right-sided non-pulsatile tinnitus, ear itchiness, dizziness, and subjective fever.

Notably, she denied any history of smoking, alcohol use, trauma, recent dental procedures, or systemic symptoms such as headache, visual disturbances, nausea, vomiting, or neurological deficits.

History of past illness

The patient has an 8-year history of well-controlled hypertension and newly diagnosed diabetes mellitus (hemoglobin A1c 7.6%). Eleven years before the current presentation (2024), the patient developed chronic right-sided otorrhea, intermittent otalgia, and progressive hearing loss. Preoperative imaging at that time demonstrated findings consistent with chronic suppurative otitis media with cholesteatoma, without radiologic evidence of a vascular skull base lesion. She subsequently underwent a right canal wall-up mastoidectomy. Histopathology confirmed cholesteatoma. There was no documentation of facial nerve palsy at that time.

In the years following surgery, the patient continued to experience intermittent right-sided otalgia and chronic discharge, with gradual worsening of hearing loss. Right-sided facial weakness developed several years postoperatively (exact onset unclear due to limited follow-up documentation) and progressively worsened to House-Brackmann grade V. The delayed onset and progressive nature of the facial nerve palsy suggest an evolving skull base process rather than an immediate postoperative complication.

During the intervening period, malignant otitis externa (MOE) was considered due to persistent otorrhea and progressive cranial nerve involvement. Microbiological confirmation, including cultures for Pseudomonas aeruginosa, was not documented. Furthermore, imaging did not demonstrate the characteristic skull base soft tissue infiltration or diffuse osteomyelitis typically seen in MOE.

Personal and family history

The patient denied any family history of tumors.

Physical examination

On examination, she appeared toxic, with a fever of 38.6 °C and elevated blood pressure (186/109 mmHg). Otoscopy revealed the right post-auricular surgical scar, pre- and post-auricular induration with tenderness, and an otoscopy; a whitish, non-discharging mass completely obstructing the right external auditory canal was seen. Tuning fork tests demonstrated a left-lateralizing Weber test and a positive Rinne test (air conduction > bone conduction) on the right, consistent with right moderate to severe SNHL. The right facial nerve and cochlear nerve of VIII were affected, while CNs IX-XII were normal. The left ear and the remaining head and neck examination were unremarkable. Based on clinical findings, a diagnosis of MOE was made, and the patient was admitted.

Laboratory examinations

No abnormality was found in routine blood analyses.

Imaging examinations

Pure-tone audiometry demonstrated moderately severe sensorineural hearing loss in the right ear, while the left ear exhibited isolated high-frequency hearing loss (Figure 1). A high-resolution CT (HRCT) scan of the temporal bone was obtained at admission, followed by a brain magnetic resonance imaging (MRI). Imaging revealed a highly vascular right jugulotympanic paraganglioma with superior and lateral extension into the middle ear and intracranial extension into the temporal lobe (Figures 2, 3, 4, and 5). A contrast-enhanced CT scan of the chest, abdomen, and pelvis was performed and demonstrated no evidence of distant metastasis. The patient was subsequently lost to follow-up; therefore, no definitive management plan was established.

Figure 1 Pure-tone audiometry of the right and left ears. A: Performed in 2013; B: Performed in 2019; C: Performed in 2024, showing severe sensorineural hearing loss in the right ear. The left ear depicts normal hearing with high-frequency loss at 4 kHz and 8 kHz.

Figure 2 High-resolution non-contrast-enhanced computed tomography of the temporal bone (0.6-mm slice thickness, bone algorithm reconstruction) showing evidence of prior right mastoidectomy. Permeative bony lesions of the right temporal bone, especially of the temporal apex, right clival region, and right ossicular chain erosion are seen (long thin arrows). The mass is epicentered in the right jugular fossa (short thick arrows).

Figure 3 Axial non-contrast-enhanced T1-weighted magnetic resonance imaging of the brain (fast field echo sequence; repetition time 600 milliseconds, echo time 15 milliseconds, flip angle 25°, 3-mm slice thickness). A and B: Of the brain demonstrates a poorly defined heterogeneous mass of slight hyperintensity and hypointensity centered at the right jugular fossa. A: Characteristic “salt” and “pepper” appearance is observed with punctate regions of hyperintensity representing the “salt” and small flow voids representing the “pepper” (long orange arrow and yellow arrow, respectively). Middle ear extension (thick short arrow) and masticator space (M) are seen; B: The right temporal lobe extension is demonstrated.

Figure 4 T2-weighted magnetic resonance imaging. A and B: Axial T2-weighted magnetic resonance imaging of the brain (fast spin echo sequence; repetition time 4500-6000 milliseconds, echo time 90-110 milliseconds, 3-mm slice thickness) demonstrates a slightly hyperintense, heterogeneous mass in the region of the right jugular foramen (long arrow). A characteristic “salt and pepper” appearance is noted. The lesion extends inferiorly into the ipsilateral middle ear cavity (short thick arrow) and right masticator space (M), with superior extension into the ipsilateral temporal lobe (arrows). Hyperintense fluid signal within the right mastoid air cells indicates retained secretions (P); C and D: Axial fluid-attenuated inversion recovery magnetic resonance imaging shows a heterogeneous hypo- to hyperintense lesion involving the right jugular foramen and extending into the ipsilateral temporal lobe.

Figure 5 Contrast-enhanced magnetic resonance imaging features of the right jugular foramen mass. A and B: Axial gadolinium-enhanced T1-weighted fast field echo (FFE) magnetic resonance imaging (repetition time 500-700 milliseconds, echo time 10-20 milliseconds, flip angle 20°-30°, slice thickness 3 mm) following intravenous administration of gadolinium-based contrast (0.1 mmol/kg) demonstrates avid enhancement of the lesion involving the right jugular foramen, middle ear cavity, and ipsilateral temporal lobe; C: Coronal T1-weighted FFE post-contrast image shows an intensely enhancing mass in the right jugular fossa with superolateral extension into the ipsilateral inferior temporal lobe (short thick arrow), inferior extension into the ipsilateral middle ear cavity (short thin arrow), and further spread into the masticator space (long arrow).

FINAL DIAGNOSIS

The final diagnosis was jugulotympanic paraganglioma.

TREATMENT

Initial stabilization included intravenous antibiotics, analgesia, blood pressure control, and glycemic management.

OUTCOME AND FOLLOW-UP

The patient was lost to follow-up and later returned with features suggestive of local intracranial extension. Further investigations, including serum metanephrines and chromogranin A levels, were not performed due to financial constraints, as the patient declined these tests. Additionally, due to the highly vascular nature of the tumor, a biopsy was not performed.

DISCUSSION

JPGLs present significant diagnostic challenges, particularly when classical jugular foramen syndromes are absent[2]. These tumors typically arise within the jugular foramen and may extend into the middle ear, temporal bone, or intracranially. Their clinical hallmark is pulsatile tinnitus, conductive hearing loss, and lower CN palsies (CN IX–XI), a constellation known as jugular foramen syndrome[8]. However, in this patient, such features were atypical, complicating timely diagnosis[9].

Our patient’s presentation with non-pulsatile tinnitus, SNHL, and long-standing facial nerve palsy deviated from the expected JPGL profile. Her case diagnosis was delayed and managed as chronic suppurative otitis media and cholesteatoma. This led to the extension into the temporal lobe.

Interestingly, the tumor was non-pulsatile, likely due to multiple factors, including extensive erosion of the middle and inner ear structures and the associated conductive and sensorineural hearing loss. These changes may have masked the typical pulsatile nature of jugulotympanic paragangliomas, which is usually more apparent in lesions that preserve normal ossicular and vascular anatomy. The patient presented with isolated right facial nerve (CN VII) palsy without involvement of the lower cranial nerves (CN IX–XII). To our knowledge, this is the first reported case of a paraganglioma presenting with isolated CN VII palsy; previous reports have described primary involvement of the hypoglossal nerve (CN XII) or other lower cranial nerves[10].

Imaging revealed that the tumor primarily extended superiorly and laterally into the middle ear and temporal bone, involving the facial nerve canal, rather than inferiorly into the jugular foramen, where the lower cranial nerves exit. This selective involvement can be explained by the anatomic course of CN VII, which traverses the temporal bone via the fallopian canal, bringing it into direct contact with laterally and superiorly expanding tumors. Additionally, the slow-growing, hypervascular nature of jugulotympanic paragangliomas favors expansion along paths of least resistance, such as the middle ear and mastoid, rather than inferiorly toward the jugular bulb. These factors together account for the isolated facial nerve palsy and illustrate how tumor location, growth pattern, and vascularity determine cranial nerve involvement in skull base paragangliomas.

HRCT of the temporal bone revealed a soft-tissue mass in the right jugulotympanic region with avid contrast enhancement and permeative (“moth-eaten”) bone erosion of the jugular foramen and adjacent temporal bone, characteristic of a highly vascular skull base lesion. The following differential diagnoses were ruled out, as vestibular schwannoma was ruled out, as it typically arises in the internal auditory canal or cerebellopontine angle and does not produce the extensive bone destruction or intense vascular enhancement seen here. Cholesteatoma was also considered; however, these lesions are usually confined to the middle ear and mastoid, show non-enhancing soft tissue density, and cause smooth erosion of the ossicles and scutum, unlike the aggressive permeative bone changes observed. The combination of location, bone destruction pattern, and avid enhancement on CT strongly supported the diagnosis of a jugulotympanic paraganglioma.

This case underscores significant limitations in traditional diagnostic approaches that rely primarily on textbook symptom patterns. Adult patients presenting with unilateral, progressive ear complaints such as unexplained sensorineural hearing loss, tinnitus (pulsatile or not), or cranial nerve deficits should undergo prompt CEMRI evaluation, even if classical features of jugular foramen syndrome are absent[6]. Our patient met these criteria at the initial presentation; however, CEMRI was not performed until extensive local and intracranial invasion had already occurred. This delay in imaging allowed the tumor to extend into the middle ear and temporal lobe, highlighting the risks of under-investigating isolated or atypical symptoms. While this case provides valuable insights into a rare and diagnostically challenging presentation, its limitations include the absence of histopathological confirmation and long-term follow-up, both of which would have strengthened diagnostic accuracy and informed prognosis. Pathologically, these tumors are slow-growing, and studies suggest that appropriate long-term monitoring can improve survival outcomes.

HRCT is a valuable tool in the management of paraganglioma to evaluate bony erosion (moth-eaten pattern of the temporal bone) and surgical planning. In contrast, CEMRI provides superior contrast resolution, allowing visualization of tumor margins, vascularity, and involvement of surrounding neurovascular structures[5]. Magnetic resonance angiography may further aid in assessing the feeding vessels and surgical risk.

In low-income countries, where advanced treatment modalities are often unavailable, surgery remains the cornerstone for both tumor management and the treatment of related complications[11]. It is the primary therapeutic option for patients presenting rapidly progressive intracranial hypertension and/or brainstem compression and continues to be the standard approach for young, otherwise healthy individuals who have already sustained complete functional loss of the affected CNs. Long-term follow-up has demonstrated that radical surgery can be highly effective in achieving a cure. Gross total resection is achieved in 40%-80% of cases, although local tumor control rates after surgical excision vary widely from 0% to 90%[12]. Despite refinements in microsurgical techniques and the use of intraoperative CN monitoring, complete radical resection is often not feasible due to the tumors’ marked vascularity and their critical anatomical location.

Surgical morbidity, however, remains considerable, with complications ranging from cranial neuropathies to intracranial hematomas and cerebrospinal fluid leaks[3]. Deficits involving CNs IX–XII are reported in 31%-81% of patients, with some requiring vocal cord repair or gastrostomy. Facial nerve palsy is observed in nearly one-third to almost half of the cases, occasionally necessitating tarsorrhaphy, while hearing deterioration or loss is also frequently documented. Mortality rates remain significant, ranging from 4% to 6%. These risks are particularly pronounced in “complex” glomus jugulare tumors, which are characterized by features such as large size, multifocality, malignant histology, or catecholamine secretion[3].

CONCLUSION

This case highlights the diagnostic complexity of JPGLs, particularly when they present without classical features such as pulsatile tinnitus or lower CN palsies. Atypical symptoms like non-pulsatile tinnitus and isolated facial nerve involvement can mislead clinicians, especially patients presenting with CSOM. Inappropriate imaging in such cases can result in advanced tumor progression and limited therapeutic options. This underscores the importance of following evidence-based protocols, including early CEMRI in patients with unilateral SNHL and persistent ear symptoms. A high index of suspicion, timely imaging, and a multidisciplinary approach are crucial for early diagnosis, optimal management, and improved patient outcomes in HNPGLs.

ACKNOWLEDGEMENTS

We are grateful to the patient for his agreement of publication of this report and accompanying images.