Disclosures: Kishan A. Sitapara, MD: Nothing to disclose

Case Description: This is a case of a patient with neurofibromatosis type 1 found to have C4-C5 neurofibromas extending into the spinal canal resulting in compression at C4-C5 with spinal cord edema and a syrinx from C2-C4.

Setting: Neurosurgical Operating Room, Acute Inpatient Rehabilitation, Spinal Cord Injury Clinic.

Patient: 46-year-old man with neurofibromatosis type 1 who presented with foot drop, numbness, and cramping sensations in his hands for 1 year. EMG was done which showed mild chronic left C5,6 radicular dysfunction without active denervation and a left C8,T1 radicular dysfunction with mild active denervation. Symptoms worsened and eventually MRIs of brain and cervical, thoracic, lumbar spine were done which showed C4-C5 neurofibromas extending into spinal canal resulting in compression with cord edema and syrinx from C2-C4. Patient underwent a C4-6 laminectomy and a C3-6 fusion for bilateral neurofibroma resection. Post-op CT and MRI showed spinal cord decompression but remaining cord edema at C5. He was placed on a dexamethasone course. He initially failed post-op TOV and had a Foley placed. Patient was transferred to acute inpatient rehabilitation unit due to severe deficiencies in gait pattern, ambulation, and motor function.

Assessment/Results: MRI showing neurofibromas in the spinal canal.

Discussion: Neurofibromatosis is a rare autosomal dominant condition that can present with neurofibromas in a widespread distribution, both internally and externally. According to a study in over 1400 patients with neurofibromatosis type 1, symptomatic spinal tumors were seen in only 1.6% of individuals. Early diagnosis and intervention could prevent further spinal cord injury. Physicians need to be aware that even though patients do not present with multiple external neurofibromas, that does not exclude neurofibromas as the cause of their patient’s symptoms.

Conclusion: Patients with neuofibromatosis type 1 presenting with symptoms of spinal cord injury should have imaging of the spine done early to evaluate for possible neurofibromas in the spinal canal.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/the-role-of-early-diagnosis-and-treatment-in-neurofibromas-causing-cervical-spinal-cord-compression/