Bilateral Papilledema in a Child with Spinal Myxopapillary Ependymoma: A Case Report

Introduction

Spinal ependymomas are central nervous system tumors that arise from the ependymal cells lining the central canal of the spinal cord. These tumors are typically graded on a fourtier scale, ranging from low-grade malignancy (WHO Grade 1) to high-grade malignancy (WHO Grade 4) [1]. They can occur along any segment of the spinal cord but are most frequently found in the thoracic region. The symptoms associated with spinal ependymomas are generally related to the location and size of the tumor and may include back pain, muscle weakness, sensory abnormalities, gait disturbances, and dysfunction of the bladder or bowels [2–4]. Myxopapillary ependymoma, a subtype of spinal ependymoma, predominantly occurs in the conus medullaris and cauda equina regions of adults [5], and is relatively rare in the pediatric and adolescent population [6,7]. Literature also reports that myxopapillary ependymoma can metastasize along the spinal axis as well as intracranially [8]. Hence, prior to neurosurgical intervention, MRI examination of the brain and the entire spinal cord is highly recommended. Clinical presentations of myxopapillary ependymoma commonly include signs and symptoms of spinal cord or cauda equina dysfunction (paralysis, sensory loss), along with lower back pain [9]. Ocular complications, such as bilateral papilledema, visual impairment, and diplopia, are less frequently observed in myxopapillary ependymoma patients [10]. These cases often face misdiagnosis and delayed treatment due to the primary lesion being overlooked during initial ophthalmologic assessments. The case we report here initially presented to ophthalmology due to bilateral papilledema, with symptom recurrence despite steroid therapy. Fortunately, thorough neurological examinations, including lumbar puncture and imaging studies, revealed the patient’s primary myxopapillary ependymoma, facilitating the necessary surgical intervention.

Case Report

A 12-year-old boy presenting with decreased visual acuity, neck, and back pain was previously diagnosed with optic neuromyelitis at another hospital. He received treatment with intravenous methylprednisolone and was discharged upon improvement of his visual symptoms. However, experiencing a deterioration in visual acuity and neck pain, he sought further medical attention at Shenzhen Children’s Hospital shortly after his discharge. The ophthalmological examination revealed that the right eye had a visual acuity of 20/60, while the left eye had a visual acuity of 20/25. Both pupils exhibited sluggish direct light reflexes. The optic papillae in both eyes showed congested hemorrhages with unclear borders, and a retinitis pigmentation disorder in the macular area (Figure 1A, 1B). Optical coherence tomography (OCT) displayed bilateral papilledema, superficial detachment of the nerve fiber layer from the pigment epithelium in the macular region of both eyes, and subretinal fluid (Figure 1C, 1D). Visual Evoked Potentials (VEP) indicated prolonged P100 latency and decreased amplitude in both eyes. Cerebrospinal fluid antibodies were negative. The clinical diagnosis was bilateral papilledema with further etiological investigation required, leading to a referral to neurology. The neurological examination revealed various abnormalities including neck tonus, bilateral vertical nystagmus, reduced muscle strength in the distal right lower limb, nociceptive hypersensitivity in the right lower limb, absence of abdominal reflexes, unelicited knee jerks and Achilles tendon reflexes, a positive right Babinski sign, as well as positive Kerning and Brudzinski signs. Lumbar puncture measured the cerebrospinal fluid pressure at 240 mmH2O (normal range: 80–180 mmH2O), indicating increased intracranial pressure. Analysis of the cerebrospinal fluid showed protein of 157 mg/dL (normal <50 mg/dL). Cranial, orbital, full-spine MRI, and contrast-enhanced lumbar spine MRI revealed bilateral optic nerve edema (Figure 2A, 2B), spinal cord flattening, likely due to elevated intracranial pressure, no hydrocephalus was detected (Figure 2A), and an intradural lesion in the lumbar region, likely neoplastic in nature (Figure 2C–2E). The patient was referred to the neurosurgery department for further intervention, undergoing surgical re-section of the intradural lesion (Figure 3A, 3B). The pathology report identified the tumor as myxopapillary ependymoma WHO Grade 2 (Figure 3C). Upon discharge, the child’s right eye vision improved to 20/40, left eye vision to 20/20, with reported visual field enhancement and alleviation of diplopia symptoms, alongside restoration of normal muscle strength and tone in all limbs. Three months after surgery, a follow-up spinal MRI revealed a lesion in the sacral spine, indicating tumor recurrence (Figure 4A, 4B). Subsequently, the child underwent a second resection of the spinal lesion, with the pathological diagnosis remaining as myxopapillary ependymoma (Figure 4C). After the second surgery, the patient did not follow up with the neurology or ophthalmology department as requested, and we lost contact for further follow-up.

Discussion

When bilateral papilledema is observed in a patient, the initial consideration typically focuses on the presence of intracranial lesions, while the possibility of intradural lesions may be overlooked [11]. Myxopapillary ependymomas causing bilateral optic disc swelling may stem from cerebrospinal fluid secretion disturbances and dynamics subjugation. Tumor active secretion, breakdown products, and subarachnoid hemorrhage may incite the meninges, elevating cerebrospinal fluid protein concentration [12]. Excessive protein secretion and mechanical obstruction by spinal cord tumors impede cerebrospinal fluid flow, heightening fluid viscosity that can directly affect axoplasmatic flow, leading to disc edema. Concurrently, reduced cerebrospinal fluid absorption due to subarachnoid adhesions raises intracranial pressure, exacerbating optic disc swelling [13]. Additionally, the lumbosacral region is vital for cerebrospinal fluid storage, aiding in maintaining stable intracranial pressure alongside cerebral ventricles. Mechanical obstruction by spinal tumors can diminish the “reservoir” capacity, decrease spinal compliance, and lower overall cerebrospinal fluid space compliance. When this surpasses compensatory capacity of intracranial vessels, intracranial pressure elevation occurs, precipitating optic disc swelling [11,14]. When myxopapillary ependymomas present ocular complications, the most common symptoms include decreased visual acuity, visual field defects or enlarged blind spots, transient visual confusion, and either esotropia or exotropia nerve paralysis [10]. Additional symptoms encompassed diplopia, metamorphopsia, decreased contrast sensitivity, relative afferent pupillary defect, and retrobulbar pain. These cases shared common features such as neurological signs or symptoms of myelopathy and elevated cerebrospinal fluid protein levels [11]. This underscores the importance of considering spinal imaging in patients presenting with bilateral papilledema and myelopathy-like symptoms, emphasizing the need for timely multidisciplinary consultation to develop an appropriate treatment strategy.

Due to incomplete surgical resections, large tumor volumes, and multifocal lesions, the probability of myxopapillary ependymoma recurrence or local metastasis is approximately 20%, with metastasis capable of occurring anywhere along the spinal axis, including the brain [8,15–17]. Furthermore, studies indicate that pediatric myxopapillary ependymomas are more prone to dissemination and lymphatic spread, with recurrence risks in children reaching up to 40% [18,19]. Although no multifocal metastases were detected in this case, preoperative MRI of the brain and entire spinal cord is essential for devising the surgical plan.

Conclusions

Surgical intervention remains the primary approach for definitively treating myxopapillary ependymomas [20–22]. As ophthalmologists, encountering pediatric or adolescent patients with symptoms such as visual impairment, diplopia, headache, neck or back pain, and lower back pain should prompt consideration of accompanying myxopapillary ependymomas. Promptly conducting comprehensive MRI of the brain and entire spinal cord or seeking neurology consultation can not only enhance the prognosis of ependymoma patients but also aid in identifying potential concurrent neurological disorders or tumors.