A Characterisation of Spinal Abnormalities in a Cohort with Neurofibromatosis Type 1 with Dural Ectasia

Dural ectasia is a known manifestation of Neurofibromatosis type 1 (NF1). Despite its potential to cause severe complications such as spinal instability, further characterisation of its associated spinal abnormalities remains clinically important. This is a retrospective review reporting the characteristics and prevalence of spinal abnormalities in patients with concurrent NF1 and dural ectasia.

The data was collected from a period of 5 years from a cohort of 132 patients with dural ectasia and NF1. The data was collected from multidisciplinary team meeting reports, and a wide range of 20 distinct variables were investigated. Prevalence was calculated, as well as any statistically significant associations.

Of this cohort, 106 patients had classic NF1, and 26 patients had spinal NF1. A majority of this cohort had spinal abnormalities, with 58% of the cohort having scoliosis and 63% of the cohort having spinal nerve root tumours. Additionally, 17% of the cohort had plexiform nerve root tumours. There was a statistically significant association identified through Chi-squared testing with dural ectasia and spinal nerve root tumours as well as spinal deformity in patients with NF1 (p < 0.05).

This the largest published cohort of patients with NF1 and dural ectasia. This study highlights the high prevalence and significant associations of dural ectasia with spinal deformities and nerve root tumours in NF1 patients. These findings underscore the importance of systematic radiological assessments to identify dural ectasia early and manage complications.