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

Toro, Giuseppe; Santoro, Claudia; Ambrosio, Domenico; Landi, Giovanni; Scilipoti, Martina; Moretti, Antimo; Paoletta, Marco; Liguori, Sara; Panni, Alfredo Schiavone; Picariello, Stefania; Iolascon, Giovanni

doi:10.3390/healthcare9070881

Cited by 21 publications

(24 citation statements)

References 28 publications

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“…In fact, approximately 2% of all pediatric scoliosis is due to a comorbidity of NF1. 9 IS is typically diagnosed in childhood; the predominant hereditary nature of this disorder in NF1 patients could explain the result that younger NF1 patients are more at risk for developing scoliosis. Additional studies have also proven female NF1 patients to be at a higher risk of scoliosis compared to their male counterparts.…”

Section: Discussionmentioning

confidence: 99%

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample Database

Kodali

Kumar

Schwartz

2023

Preprint

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Background Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome in the United States, affecting every 1 in 3000 individuals. NF1 occurs due to non-functional mutations in the NF1 gene, which expresses neurofibromin, a protein involved in tumor suppression. As a result, NF1 typically presents with non-cancerous neoplasm masses called neurofibromas across the body. The most common musculoskeletal abnormality seen in around two-third of NF1 patients is scoliosis, an improver curvature of the spine. However, there is a lack of research on the effects of scoliosis on demographics and morbidities of NF1 patients. Objective We performed a national analysis to investigate the complex relationship between NF1 and scoliosis on patients’ demographics and comorbidities. Method We conducted a retrospective cross-sectional analysis of the 2017 US National Inpatient Sample database using univariable Chi-square analysis and multivariable binary logistic regression analysis to determine the interplay of NF1 and scoliosis on patients’ demographics and comorbidities. Results Our query resulted in 4,635 total NF1 patients, of which 475 (10.25%) had scoliosis and 4,160 (89.75%) did not. Demographic analysis showed that NF1 patients with scoliosis were typically younger, female, and white than when compared to NF1 patients without scoliosis. Comorbidity analysis showed that NF1 patients with scoliosis were more likely to develop malignant brain neoplasms, epilepsy, hydrocephalus, pigmentation disorders, hypothyroidism, diabetes with chronic complications, and coagulopathy disorders. NF1 patients with scoliosis were less likely to develop congestive heart failure, pulmonary circulation disease, peripheral vascular disease, paralysis, chronic pulmonary disease, lymphoma, and psychosis. Conclusion NF1 patients with scoliosis were predominantly younger, female, white patients. The presence of scoliosis in NF1 patients increases the risks for certain brain neoplasms and disorders, but serves a protective effect against some pulmonary and cardiac complications.

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Section: Discussionmentioning

confidence: 99%

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample Database

Kodali

Kumar

Schwartz

2023

Preprint

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“…Indeed, although scoliosis is only encountered in 1‒2% in adolescents, an estimated 20–33% of patients with IMSCTs present with concomitant spinal deformity [58, 60, 61]. Scoliosis is also the most frequent musculoskeletal manifestation of NF1, which accounts for approximately 2% of all pediatric scoliosis cases [62, 63]. MRI obtained for additional workup of scoliosis can identify the tumor, but clinical suspicion is warranted for occult lesions in any case of idiopathic scoliosis, given that management of the tumor is needed to improve or prevent progression of the scoliosis [60, 64].…”

Section: Comorbidities and Associated Conditionsmentioning

confidence: 99%

Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population

Hersh¹,

Lubelski²,

Theodore³

et al. 2023

Pediatr Neurosurg

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Background: Incidental intradural tumors of the spine in the pediatric population are rare lesions whose management remains unclear. Surgeons must balance the risks of iatrogenic deficits and complications after surgical resection against the risks from progressive growth of the tumor. Moreover, the natural history of an incidental finding can be difficult to predict. Here we review the literature on incidental intradural tumors of the spine and present considerations for their management. Summary: Growth of the tumor or changes in radiographic features are usually indications for resection. Asymptomatic lesions can be found in patients with genetic syndromes that predispose to tumor formation, such as neurofibromatosis type 1 and 2, schwannomatosis, and Von-Hippel-Lindau syndrome, and careful workup of a genetic cause is warranted in any patient presenting with multiple tumors and/or cutaneous features. Close follow-up is generally favored given the heavy tumor burden; however, some recommend pre-emptive resection to prevent permanent neurological deficits. Incidental intradural tumors can also occur in association with hydrocephalus, significant syringomyelia, and cord compression, and surgical treatment is usually warranted. Tumors may also be discovered as part of the workup for scoliosis, where they are not truly incidental to the scoliosis but rather are contributing to curve deformation. Key Messages: Thorough workup of patients for associated genetic syndromes or comorbidities should be undertaken in pediatric patients with incidental intradural tumors. Further research is needed into the natural history of these incidental lesions. Incidental tumors can often be managed conservatively with close follow-up, with surgical intervention warranted for expanding tumors or new-onset symptoms.

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“…7 Dural ectasia is reported in up to 29% of NF1 patients with dystrophic scoliosis and 11% of those with nondystrophic scoliosis. 43 Dural ectasia is an abnormal expansion of the thecal sac with increased CSF space and associated dysmorphic bony findings (vertebral body scalloping and wedging); it is controversial whether this is due to abnormally high hydrostatic pressure. [44][45][46] Dural ectasia in dystrophic scoliosis may simply represent filling of the spinal canal as independent osseous changes occur.…”

Section: Pathophysiology Of Dystrophic Scoliosismentioning

confidence: 99%

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

Neifert

Khan

Kurland

et al. 2022

Neurosurgical Focus

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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.

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

Cited by 21 publications

References 28 publications

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample Database

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample Database

Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population

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

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