Management of multiple cervical neurofibromas with myelopathy in neurofibromatosis type 1: A systematic review, case report and technical note

Abstract

Objective: Neurofibromatosis type 1 (NF1) is a common disorder in which affected individuals uncommonly develop cervical neurofibromas. The presentation of cervical neurofibroma with myelopathy is clinically challenging. Available data of NF1 patients with cervical cord compression secondary to multiple neurofibromas remain scarce in the literature. To this end, we sought to address this limitation. Methods: Case presentation: We report a case of a 22-year-old man, recently diagnosed with NF1, who presented with progressive cervical myelopathy over the course of 12 months. Imaging revealed multiple cervical neurofibromas with significant spinal cord compression. The patient underwent a C3 to C7 decompressive laminectomy and subtotal resection of the bilateral neurofibromas and instrumented fusion. During the postoperative period, he experienced transient bilateral weakness in C5 and C6 muscle groups that gradually resolved, and his weakness and spasticity significantly improved thereafter. Systematic review: We performed a systematic review of PubMed and Scopus in English-language literature dated between 1960 and December 2019 for studies that included cervical neurofibromas presenting with myelopathy in patients with NF1. Results: Fifty-seven articles were identified for full-text examination, of which 19 articles were included in the systematic review; 10 involved studies on surgical treatment, and nine on other treatment modalities. Twelve studies were retrospective, 3 involved prospective cohorts, and 4 were case reports. Most studies included various types of spinal cord tumors with or without neurofibromatosis. Only two studies exclusively involved neurofibromas in NF patients. There was wide variation in surgical and radiation therapy techniques and outcome measures reported. Conclusion: Surgical decompression is the primary treatment strategy for multiple cervical neurofibromas that cause a progressive neurological deficit. Fusion is recommended to avoid late kyphotic deformity. Data describing the management plan and long-term outcomes in this group of patients remain scarce in the literature, and no standardized treatment strategy is available.