Introduction: Patients with neurofibromatosis are at risk of developing central nervous system tumors due to the inactivation of neurofibromin, an inactivator of proto-oncogene Ras. The incidence of ependymoma in neurofibromatosis is variable and could be seen with both neurofibromatosis 1 and neurofibromatosis 2. Ependymoma arises from the lining of the central nervous system called ependyma and it accounts for 1.9% of all brain tumors. We discuss a patient here to highlight the association between neurofibromatosis and ependymoma.

 

Case Discussion: A 52-year-old man with a history of neurofibromatosis presented with the complaints of gradually progressive weakness of the upper and lower extremities over past 6 months resulting in quadriparesis. Of note, six months prior to presentation he was diagnosed with a cervical spine tumour but was deemed to be a poor surgical candidate at that time in a different facility.

 

On presentation, he was afebrile and hemodynamically stable. Physical examination revealed 0/5 strength in both the upper and lower extremities on the right and 3/5 strength in the upper and lower extremities on the left. Mild pitting edema was present in the lower limbs. Cardiopulmonary examination was unremarkable.

 

He was started on IV dexamethasone. Magnetic Resonance Imaging of the spine and the brain revealed expansion of the cervical spine with caudal extension into the medulla and to the thoracic spine. The patient’s personal history of neurofibromatosis and the radiological features of the intramedullary cervical spine tumour, raised clinical suspicion for the tumour being ependymoma. Following multispecialty discussion with the medical team, oncology team and neurosurgery team, decision was made for transfer to higher center for biopsy, pathological confirmation and surgical management.

 

Conclusion: Ependymoma has an indolent course and symptoms occurs in less than 20% patients. Most common location is cervical spine and symptoms could include back pain, weakness, sensory disturbances. Symptomatic patient require surgical resection. Asymptomatic patients are monitored closely for development of symptoms.

 

Ependymoma should be considered as a differential in patients with neurofibromatosis and early neurosurgical intervention should be considered in these patients. Good outcomes are seen when early diagnosis is established and total resection of the tumor is performed before onset of paralysis. Our patient highlights the need for high index of clinical suspicion of ependymoma in patients who present with cervical spinal tumour in a patient with neurofibromatosis, and the need for timely and appropriate intervention.