Natural History of Scoliosis in Children with NF1: An Observation Study

Abstract

(1) Background. Scoliosis is the most common musculoskeletal manifestation of Neurofibromatosis type 1 (NF1), and it might be dystrophic (D) or non-dystrophic (ND) depending on the presence of dysplastic changes of the spine. The aim of our study was to describe the characteristics and natural history of patients with NF1 and scoliosis. (2) Methods. We retrospectively reviewed records from patients with NF1 and scoliosis. Scoliosis was classified as D if at least two dystrophic changes were documented at imaging. (3) Results. Of the 438 patients reviewed, 43 fulfilled inclusion criteria; 17 were classified in D group and 26 in ND. The groups did not differ in age and localization of scoliosis curvature. Surgery was needed more often in D group, but the between-group difference was not significant. Male-to-female ratios of 3:1 and 4:1 were reported in surgically treated NF1 patients with ND and D scoliosis, respectively. (4) Conclusions. Our data suggests independently by the presence of dysplastic changes affecting the spine that males with NF1 are more often affected by scoliosis that requires surgery.

Keywords: dystrophic; natural history; neurofibromatosis type 1; non-dystrophic; scoliosis; treatment.

Figure 1

Flowchart of population selection.

Figure 2

Distribution of scoliotic curves in the two groups of patients.

Figure 3

Anteroposterior (a) and latero-lateral (b) views of a lumbar dystrophic early onset scoliosis. Note the dysplastic pedicles of the lumbar spine, the intervertebral foraminal widening in (b). In (c), a detail of the anteroposterior view. Note the apparent overlapping of bone between the vertebrae on the concave side, lately confirmed by MRI to be paravertebral neurofibromas.

Figure 4

X-ray (a) and MRI (b) of the lumbar spine of a child (F) with NF1 and dystrophic scoliosis. Note the vertebral scalloping (arrows) and the dural ectasia (asterisks).