gms | German Medical Science

Objective: NF-1 is one of the most common autosomal-dominantly inherited genetic disorders with an incidence of approximately 1:3,500. We report a case with rapidly progressive cervical myelopathy.

Methods: A 46-year-old woman with known NF-1 presenting with a 6 week history of progressive pain, gait disturbance and radiculomyelopathy. MRI showed a Gd enhancing, hughe space occupying tumorous formation compressing the myelon C1-C4. T2W MRI data showed a hyperintense intramedullary lesion from C1 to C5. The epidural mass formation could be diagnosed as a neurofibroma compressing the spinal cord. The intramedullar signal alteration was initially believed to be myelopathic signal DD a glioma. For the last three years the patient was reevaluated every year with MRI of the cervical spine and MR angiogram without pathological findings.

Results: Because of the known association of NF-1 with AVF we discussed this case in our daily neurosurgical-neuroradiological conference and decided to carry out an angiography, which revealed an AVF terminating in a giant intraspinal epidural varix as the cause of cord compression. Thus we approached the AVF with primary embolization, what was carried out without complications. Directly postinterventionally the patient had almost complete relief of her initial symptoms, after four weeks a total reflief until now.

Conclusions: Spontaneous spinal AVF seen in NF-1 appear to arise typically between the vertebral artery and an epidural venous varix, which can cause cord compression. Treatment is direct attack on the fistula by embolization or surgery with longterm symptomatic improvement. A daily neurosurgical-neuroradiological conference for the discussion of all clinical and radiographic findings of the patients seems to be helpful avoiding undesirable events.