Massive cervical-thoracic cord ependymoma with subtle symptoms in a young female

Case Diagnosis: Massive cervical-thoracic cord ependymoma with subtle symptoms in a young female

Case Description or Program Description: 31-year-old female presented with subtle left leg weakness and numbness. Initially, EDX results were unremarkable, but symptoms persisted for three months, worsening to right leg weakness, urinary retention and constipation. MRI scans revealed cervical cord myelitis at the C4 level. Further MRIs identified a large intramedullary lesion from craniocervical junction to T5, measuring 16.4 cm. She was then started on high-dose steroids for inflammatory myelitis.

Setting: Inpatient

Assessment/Results: Patient was evaluated by Neurology, Internal Medicine, and Neurosurgery with spinal cord biopsy and laminectomy with tumor resection from C1 to T4 performed. Testing ruled out inflammatory and rheumatologic causes of transverse myelitis. Patient admitted to the SCI unit, revealing C3 ASIA C. The biopsy confirmed cervical ependymoma, WHO grade 2. Follow-up MRIs showed improvement, and after one month of rehab, her ASIA exam changed to C4 ASIA C with improvement in upper and lower extremity strength, hand dexterity, and ADL independence. Lumbar puncture indicated central nervous system involvement, and patient is awaiting transfer for potential proton radiation therapy.

Discussion (relevance): Ependymomas are rare, making up 3% of primary CNS tumors, with spinal cord ependymomas accounting for 60% of glial tumors. Neck or back pain is often the earliest symptom, but can include spasticity, gait ataxia and sensory loss, with dominant motor loss associated with large tumors. Cord extension on imaging is key for detecting intramedullary tumors. In this case MRI showed large enhancement from C1 to T5 with length 16.4 cm. Tumors larger than 10 cm are rare and associated with poor outcomes, with only 23% in the cervical region extending into the upper thoracic area.

Conclusions: Cervical-thoracic ependymoma is a rare spinal cord tumor. Early diagnosis relies on recognizing subtle symptoms, which can prompt timely imaging, specialist referrals, and rehabilitation to prevent neurological decline.