Vol. 6, Issue 1, Part A (2024)

Neurofibromatosis Type 1 (NF1) is a genetic disorder resulting from mutations in the NF1 gene, which encodes the neurofibromin protein. This condition is characterized by the growth of benign tumors within the nervous system, alongside a range of skeletal abnormalities. Patients often present with chronic pain due to neuropathic and orthopedic sources, including neurofibromas, scoliosis, and bone deformities. A multidisciplinary approach is crucial for effective management.
We report a case of a 65-year-old female with NF1 presenting with chronic lumbar radiculopathy. Imaging revealed vertebral scalloping, neuroforaminal stenosis, and bony changes attributed to paraspinal neurofibromas. These findings highlight the dual contribution of nerve compression and skeletal remodeling to the patient’s pain. The patient’s unresponsiveness to gabapentin underscores the importance of differentiating neuropathic pain from orthopedic pain, necessitating targeted interventions.
Management strategies for NF1-associated pain include pharmacological treatments, such as gabapentin and tricyclic antidepressants, minimally invasive procedures like epidural steroid injections and nerve blocks, and physical therapy. Advanced imaging techniques, including MRI and PET scans, are vital for assessing neurofibromas, skeletal abnormalities, and potential malignant transformations. In refractory cases, surgical interventions, including neurofibroma excision or spinal fusion, may be considered.
This case illustrates the complexity of chronic pain in NF1, emphasizing the need for personalized, multimodal approaches. By integrating diagnostic precision, tailored pain management techniques, and supportive therapies, clinicians can enhance patients’ quality of life and functionality. Early and coordinated care is essential to address the multifaceted challenges posed by this disorder.