Objectives To describe the characteristics of reported spinal pathology in NF1 patients.
Design Systematic review.
Subjects 1809 patients from 23 studies.
Methods This review was conducted as per PRISMA guidelines and registered on the PROSPERO database of systematic reviews. Systematic searches were performed on the following databases: PubMed, PsycINFO, Medline, HMIC, HBE, EMBASE, CINAHL, BNI, AMED and the Cochrane Database of Systematic Reviews. Studies with n>1 describing any spinal abnormality in NF1 patients were included.
Results 23 studies were included from 1253 unique results. The evidence levels were as follows: I (n=1), II (n=2) and IV (n=19). Data was available in 1809 patients with a mean age of 22.5 years and equal gender distribution (49.3% male). Reported spinal pathology included: dural ectasia – 93/290 (32.1%); scoliosis – 326/748 (43.6%); meningocele – 5/31 (16.1%); syrinx – 10/97 (10%); cord signal abnormalities in the absence of tumour compression – 33/97 (34%); intramedullary tumour – 7/82 (8.5%); spinal nerve root tumour – 276/1350 (20.4%); and spinal plexiform tumour – 167/364 (45.9%). Degenerative spinal disease and Chiari malformation were not described to any meaningful extent.
Conclusions Spinal pathology is common in patients with NF1 though existing literature is heterogeneous in how findings are presented. Most existing studies are of low quality. There is a need for prospective studies on this theme to aid the establishment of a core outcome set for spinal disease in NF1 patients.
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