Neurofibromatosis type 1: Surgical Perspectives

Abstract

Introduction: Neurofibromatosis type 1 (NF1) affects about 1 in 3000 people. The indications for surgical intervention in patients with NF1 are not always clear-cut. In low-income economies, where scarcity of resources and skilled manpower often dictate levels of healthcare, a broad knowledge base of NF1 is required in order to adequately manage NF1 complications. Materials and Methods: The authors performed PubMed/internet searches for articles on surgical aspects of NF1, as well as a review of the pathology department database for reports on all specimens submit-ted from patients with NF1 over a 16 year period. A retrospective chart review was performed on all patients with NF1 referred to the authors’ institution for surgical intervention between January 2004 and January 2011. Results: Forty five articles describing aspects of surgical care of patients with NF1 qualified for inclusion in the review. Pathological specimens were submitted from a total of 333 patients with NF1 between 1992 and 2008. These represented 0.4% of all submitted specimens during this period. The male to female ratio was 1.05:1; 9.3% of these specimens were reported as malignant peripheral nerve sheath tumors. Fifteen of sixteen NF1 patients referred to the institution for surgical interven-tion over a seven year period underwent an average 1.7 interventions. Most presented late, some with malignancies (27%), making it difficult to obtain good cosmetic and functional results. Three representative case presentations are reported from these patients to show that (i) NF1 complications affects any system, cannot be predicted, making prognosis uncertain, (ii) cervical spine instability, excessive intra-operative bleeding and post-operative edema are important peri-operative considerations, essential role of access to safe blood for transfusion and an intensive care service. Conclusions: Surgical symptom control (cosmesis, function, and pain) rather than surgical cure is the primary, achievable goal of most interven-tions in patients with NF1. Lifelong surveillance is necessary for all NF1 patients to avert or minimize complications, and thus improve surgical outcomes.