A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom

Abstract

Objective

Neurofibromatosis type 1 (NF1) is a tumour syndrome known to have significant life altering manifestations; one such major manifestation is spinal lesions. Much of the published literature on NF1 comes from large dedicated NF1 centres which receive patients from a wide non defined geographic area. This makes it difficult to work out the prevalence of a particular disease in a defined population. This is a retrospective clinical review that investigates the prevalence of spinal lesions in NF1 patients in a defined geographical location.

Methods

The data was collected over a period of 5 years from a cohort of 73 patients; each patient had a complete diagnosis of NF1 and resided in Manchester, United Kingdom, at the time of the study. This data was collected from multidisciplinary team meeting reports, with included spinal radiological reports investigating 20 variables related to any spinal disease associated with NF1.

Results

Spinal nerve root tumours were found in 51 % of patients in this cohort, the most common spinal region being the cervical spine; 60 % of the total number of patients with spinal nerve root tumours had C2 spinal nerve root tumours. Spinal deformity was present in 60 % of patients in this cohort. The most common spinal deformity in this cohort was scoliosis, where 91 % of these patients with spinal deformities had scoliosis.

Conclusion

This is the first reported study to publish data on the prevalence of known spinal lesions in NF1 individuals from a defined geographical location. This review aims to aid current clinical practice in the management of NF1, as well as fill the gap in the current NF1 literature.