Background: Spinal cord compression represents an important clinical problem in patients with neurofibromatosis type 1, but is rarely described.
Case: A 22-year-old woman with no past medical history visited the hospital with gait abnormality. One year prior to presentation, she developed right ankle weakness. She tended to fall forward when walking. However, gait endurance or speed was in the normal range without an assistive device or assistant. Physical examination revealed café-au-lait spots and right-sided foot drop. Neurological examination presented increased both ankle reflexes; positive Babinski sign; positive ankle clonus; Modified Ashworth Scale 0; manual muscle testing grades 4/5 weakness of right ankle dorsiflexor. Initial Modified Barthel Index score was 100 points. Electromyography showed findings of a mixed axonal and demyelinating sensory polyneuropathy, and right L5 radiculopathy with evidence of ongoing denervation in the L5-innervated muscles. Sensory evoked potential was recorded as normal on both tibial nerve studies. Magnetic resonance imaging showed multiple intradural extramedullary masses with severe cord compression at C1-2, C2-3, C3-4, T10-11 and cauda equina compression at L4-5, and L5-S1 levels. The patient underwent surgical excision of masses at posterior column of cervical and thoracic level. Pathologic findings were consistent with neurofibromas. After surgical management, walking was difficult without walker due to impaired proprioception and severe degree of spasticity (Modified Ashworth Scale 3), but with preservation of muscle strength, temperature and pain sensation. Rehabilitation included walker gait training, both quadriceps co-contraction training and activities of daily living training. At six weeks of rehabilitation, Botulinum toxin injections were performed, because ankle clonus was persisted and ankle dorsiflexion was limited due to spasticity, which aggravated genu recurvatum. Eight weeks after rehabilitation, endurance of gait with walker increased from 3m to 30m and 10m walk test showed speed improvement from 1minute 50seconds to 1minute 10seconds. The Modified Barthel Index score improved from 60 points to 74 points and Berg Balance Scale was 12 points.
Conclusion: In our case, the patient who had gait abnormality was diagnosed with neurofibromatosis type 1 and underwent surgical excision of neurofibromas with severe cord compression. Unfortunately, after surgical management, walking was difficult for the patient due to impaired proprioception and severe degree of spasticity. This was thought to be posterior cord syndrome which have poor prognosis for ambulation. Actually, despite rehabilitation treatment, the patient’s overall scores for evaluation improved, but it was difficult to return to the pre-operative state. In conclusion, we recommend conservative treatment rather than surgical intervention for neurofibromatosis type 1 patients with spinal cord compression at posterior column. |
