Neurofibromatosis: an unusual cause of cervical myopathy

Generalized neurofibromatosis (NF) is characterized by café au lait spots, deformity of the skeleton and tumors involving the skin as well as spinal, peripheral and cranial nerves. The spine is that part of the skeleton most commonly affected in NF, although involvement of the cervical spine in NF has only rarely been reported. The majority of neurofibromas involving spinal nerves are asymptomatic or present with symptoms consistent with nerve root involvement. Classic symptoms of myelopathy secondary to spinal cord compression in NF are rare. We describe a 35-year-old male with generalized NF who presented with worsening gait instability. Magnetic resonance imaging (MRI) revealed enhancing masses producing spinal cord compression at the C1-C2 and C4 levels. The patient underwent decompressive laminectomy and, at eight weeks after surgery, was once again ambulatory. The literature discussing the sequelae and treatment of NF when it produces myelopathy is reviewed.