Treatment of Intractable Pain in a Patient with Neurofibromatosis I: Case Report
Gentian Meta, M.D., Ahmed Ghaleb, M.D.,
Dept. of Anesthesiology, Univ. of Arkansas for Medical Sciences, Little Rock, Arkansas

Introduction
Neurofibromatosis I, also known as Von Recklinghausen’s disease, is an autosomal dominant disease affecting the nervous system. One of the manifestations of NF1 is the formation of specific peripheral neurofibromas. We present a case with failed symptomatology after surgical intervention and improvement after epidural steroid injection.

Case report
Patient is a 38 year-old female with Type I neurofibromatosis (NF1). She presented with severe radicular pain in her RLE and underwent R partial L5 hemi-laminectomy and nerve root tumor excision. Surgical intervention failed to relieve her pain, so she was referred to our clinic for pain control. We performed coccygeal and S1 transforaminal epidural steroid injections resulting in a significant improvement of her symptoms.

Discussion
NF1 is now recognized as a single gene defect (localized to chromosome 17q11.2) affecting multiple organ systems with a particular predisposition for the formation of specific peripheral neurofibromas. These lesions are benign peripheral nerve sheath tumors characterized by unpredictable growth patterns, diverse appearances and a variable cellular composition. Neurofibromas are composed of a mixture of cell types including Schwann cells, fibroblasts, mast cells, and vascular elements. Some patients have painful
neurofibromas along the course of peripheral nerves, which can be difficult to manage surgically. There are also spinal neurofibromas arising from the dorsal nerve roots, which can lead to pain as well as neurological deficits. Discrete neurofibromas can be surgically removed, but may develop again in the same site after surgery. Based on the above statements and knowing that hormonal changes have an effect on the disease, we hypothesized that steroids could be beneficial in these patients for two reasons. First,
steroids are hormones that could have an effect on the disease. Second, steroids could also affect the activity of the mixed cells forming the neurofibromas. In addition, surgical excision is invasive and associated with recurrence while steroid treatment is less invasive and could be beneficial.
The above hypotheses have not been proven in clinical studies. The management of patients affected with NF1 often requires the cooperation of many medical and surgical sub specialists.

Summary
Neurofibromatosis I is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 have a predisposition to develop peripheral nerve sheath tumors leading to pain. Surgical intervention has been used for excruciating pain due to myelopathy or radiculopathy. Whether steroids are beneficial in the treatment of symptoms or even the neurofibroma itself remains to be proven in clinical studies.

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