Management and surgical outcomes of dystrophic scoliosis in neurofibromatosis type 1: a systematic review

Abstract

OBJECTIVE Neurofibromatosis type 1 (NF1) dystrophic scoliosis is an early-onset, rapidly progressive multiplanar deformity. There are few studies on the surgical management of this patient population. Specifically, perioperative morbidity, instrument-related complications, and quality-of-life outcomes associated with surgical management have not been systematically evaluated. In this study, the authors aimed to perform a systematic review on the natural history, management options, and surgical outcomes in patients who underwent NF1 dystrophic scoliosis surgery. METHODS A PubMed search for articles with “neurofibromatosis” and either “dystrophic” or “scoliosis” in the title or abstract was performed. Articles with 10 or more patients undergoing surgery for NF1 dystrophic scoliosis were included. Data regarding indications, treatment details, morbidity, and outcomes were summarized and analyzed with descriptive statistics. RESULTS A total of 310 articles were identified, 48 of which were selected for full-text review; 30 studies describing 761 patients met the inclusion criteria. The mean age ranged from 7 to 22 years, and 99.7% of patients were younger than 18 years. The mean preoperative coronal Cobb angle was 75.2°, and the average correction achieved was 40.3°. The mean clinical follow-up in each study was at least 2 years (range 2.2–19 years). All patients underwent surgery with the intent of deformity correction. The scoliosis regions addressed were thoracic curves (69.6%) and thoracolumbar (11.1%) and lumbar (14.3%) regions. The authors reported on a variety of approaches: posterior-only, combined anterior-posterior, and growth-friendly surgery. For fixation techniques, 42.5% of patients were treated with hybrid constructs, 51.5% with pedicle screw–only constructs, and 6.0% with hook-based constructs. Only 0.9% of patients underwent a vertebral column resection. The nonneurological complication rate was 14.0%, primarily dural tears and wound infections. The immediate postoperative neurological deficit rate was 2.1%, and the permanent neurological deficit rate was 1.2%. Ultimately, 21.5% required revision surgery, most commonly for implant-related complications. Loss of correction in both the sagittal and coronal planes commonly occurred at follow-up. Five papers supplied validated patient-reported outcome measures, showing improvement in the mental health, self-image, and activity domains. CONCLUSIONS Data on the surgical outcomes of dystrophic scoliosis correction are heterogeneous and sparse. The perioperative complication rate appears to be high, although reported rates of neurological deficits appear to be lower than clinically observed and may be underreported. The incidence of implant-related failures requiring revision surgery is high. There is a great need for multicenter prospective studies of this complex type of deformity.

Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene

“…Approximately 10% of NF1 children have early onset scoliosis. 4 , 7 Dystrophic scoliosis often progresses even after skeletal maturity to a severe deformity thus requiring surgical treatment. Growth-friendly treatment is used to prevent the progression of the deformity while allowing further spinal growth in young patients with early onset scoliosis.…”

“…Growth-friendly treatment is used to prevent the progression of the deformity while allowing further spinal growth in young patients with early onset scoliosis. 4 , 8 , 9 Thoracic height of 18 cm is considered satisfactory to prevent thoracic insufficiency syndrome. 10 Spinal fusion is used in adolescent and adult patients.…”

“…Surgical treatment in patients with NF1 is complicated due to poor bone quality, sharp angular curvatures, vertebral rotation, and dural ectasia. 4 Male-to-female ratio of 4:1 was reported for surgically treated dystrophic scoliosis in NF1 child patients. 4 …”

“… 4 Male-to-female ratio of 4:1 was reported for surgically treated dystrophic scoliosis in NF1 child patients. 4 …”

“…Spinal tumors are common in dystrophic scoliosis. 3 , 4 Severe dystrophic scoliosis may lead to neurologic injury. Dystrophic scoliosis does not typically respond to conservative treatment.…”