Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1. (July 2020)

• Record Type: Journal Article
• Authors: Curtis-Lopez, Carlos M.; Soh, Calvin; Ealing, John; Gareth Evans, D.; Burkitt Wright, Emma M.M.; Vassallo, Grace; Karabatsou, Konstantina; Joshi George, K.
• Is Part Of: Journal of clinical neuroscience. Volume 77(2020)
• Page Start: 98
• Page End: 105
• Publication Date: 2020-07
• Subjects: Neurofibromatosis type 1 -- Spinal lesions -- Dural ectasia -- Spinal neurofibromatosis -- Neurofibromas -- Scoliosis; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2020.05.014
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: This is the largest reported descriptive study to date of spinal lesions in NF1. Cutaneous lesions are the most commonly reported clinical feature in NF1. Spinal tumours (mostly cervical or lumbar) and spinal deformity are common in NF1. Repetitive movement may be important in the pathogenesis of spinal tumours in NF1. There is a positive association between dural ectasia and spinal deformity. Abstract: Neurofibromatosis type 1 (NF1) manifests itself in many ways in the spine. This study aims to report the types of spinal lesions, clinical and demographic data in a large cohort from a complex NF1 centre. The characteristics of those with spinal neurofibromatosis, where neurofibromas are present on every spinal nerve root, were sought for comparison with the wider group of NF1 patients. This is a retrospective review of MDT minutes of 303 patients from a UK NF1 centre and the largest reported series of NF1 patients based on radiological data. Prevalence of each symptom and lesion was calculated and statistically significant associations were established. The most reported findings were cutaneous lesions (44.9%) and neurological deficit (27.4%). 28.4% had dural ectasia, 52.5% had some form of spinal deformity. 57.8% had spinal nerve root tumours, the most common of which were at C2. The most progressive lesions were spinal nerve root tumours (29.1%). The only statistically significant association found was between dural ectasia and spinal deformity (P < 0.003), where dural ectasia is associated with a 32.6% increase in spinal deformity incidence. This is the largest descriptive study of spinal lesions in NF1. Spinal tumours and spinal deformity are prevalent in NF1. The predilection of spinal tumours for flexible spinal regions suggests that repetitive movement might be an important factor in pathogenesis. Physicians and patients should be alert to the observation that although many spinal neurofibromatosis patients display no neurological deficit, they often have significant lesions which require monitoring and sometimes surgery.