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(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.
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http://dx.doi.org/10.3390/healthcare9070881 | DOI Listing |
Childs Nerv Syst
August 2025
Shriners Children's Philadelphia, 3551 N Broad St, Philadelphia, PA, 19140, USA.
Purpose: Neurofibromatosis type 1 (NF-1) is a genetic disease with many clinical manifestations, including early onset scoliosis (EOS). There has been increasing interest in the use of growing rod constructs in these patients. Our study seeks to understand the complication rates of these procedures in patients with NF-1.
View Article and Find Full Text PDFJBMR Plus
August 2025
FirmoLab, FIRMO Foundation, Florence, 50129, Italy.
A subset of patients with neurofibromatosis 1 (NF1), a rare autosomal dominant genetic condition, can develop skeletal manifestations. Scoliosis secondary to NF1 (hereafter referred to as NF1 scoliosis) is the most common and is expected to add substantial burden for patients with underlying NF1 due to its early age at onset, potentially rapidly progressive nature, and interplay with other NF1-related pathology (eg, spinal tumor development). Despite this, there are limited studies comprehensively evaluating the burden of NF1 scoliosis to help better characterize unmet need.
View Article and Find Full Text PDFRev Bras Ortop (Sao Paulo)
April 2025
School of Medicine, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Objective: To compare the effect of combined spinal fusion (anteroposterior) on pulmonary function in patients with scoliosis secondary to Marfan syndrome versus neurofibromatosis type 1 (NF1) at long-term follow-up (> 10 years).
Methods: Retrospective comparative study with nine patients, operated from March 1997 to December 2009, groups: Marfan syndrome versus NF1. Outcome measures were sex; age (at diagnosis and surgery); corrected height by wingspan; body mass index (BMI); duration of surgery (minutes); estimated blood loss (mL); last follow-up (years); pulmonary and implants related complications; pre- and postoperative Cobb angle of main thoracic curve and of thoracic kyphosis (T5 to T12); number of instrumented levels; absolute and percentage predicted values of forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1).
Rev Bras Ortop (Sao Paulo)
April 2025
Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Objective: To compare the effect of combined spinal fusion (anteroposterior) on pulmonary function in patients with scoliosis secondary to Marfan syndrome versus neurofibromatosis type 1 (NF1) at long-term follow-up (> 10 years).
Methods: Retrospective comparative study with nine patients, operated from March 1997 to December 2009, groups: Marfan syndrome versus NF1. Outcome measures were sex; age (at diagnosis and surgery); corrected height by wingspan; body mass index (BMI); duration of surgery (minutes); estimated blood loss (mL); last follow-up (years); pulmonary and implants related complications; pre- and postoperative Cobb angle of main thoracic curve and of thoracic kyphosis (T5 to T12); number of instrumented levels; absolute and percentage predicted values of forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1).
Neurofibromatosis type 1 (NF1) is frequently associated with a multitude of skeletal abnormalities including dystrophic scoliosis. A rare but severe complication of dystrophic scoliosis in NF1 is the herniation of rib heads into the spinal canal, potentially leading to devastating spinal cord compression. We present two pediatric cases of NF1-associated dystrophic scoliosis with intra-spinal herniation of rib heads.
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