Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series

• Published in: Spine deformity 2019-09, Vol.7 (5), p.812-821
• Main Authors: Simon, Anne Laure, Meyblum, Jean, Roche, Bastien, Vidal, Christophe, Mazda, Keyvan, Husson, Isabelle, Ilharreborde, Brice
• Format: Article
• Language: English
• Subjects: Adolescent; Cerebellar syndrome; Child; Female; Follow-Up Studies; Friedreich ataxia; Friedreich Ataxia - complications; Friedreich Ataxia - epidemiology; Humans; Male; Medicine & Public Health; Neurologic scoliosis; Orthopedics; Prospective Studies; Radiography; Scoliosis - complications; Scoliosis - diagnostic imaging; Scoliosis - epidemiology; Scoliosis - therapy
• ISSN: 2212-134X; 2212-1358
• DOI: 10.1016/j.jspd.2019.02.005

Prospective monocentric study. To describe the radiologic characteristics and evolution of spinal shapes in a pediatric cohort of patients with Friedreich ataxia (FA). FA is a spinocerebellar degenerative disorder responsible for gait impairment in children and young adults, and several orthopedic deformities can occur during growth, including scoliosis. However, curves' characteristics and their natural evolution have been poorly described, and the subsequent therapeutic management remains controversial. Sixty six FA patients were prospectively included between 2008 and 2017. Clinical, functional, and radiologic records were conducted twice a year. Coronal curve types, segmental measurements, and skeletal maturity were assessed. A scoliotic deformity was reported in 71% of the patients at a mean age of 11.7 ± 3.1 years. Average follow-up was 6 years, including 75% of patients with closed triradiate cartilage at latest examination. Mean Cobb angle was 34° ± 2°. Main right thoracic curves were the most frequent curves observed (36%), followed by double major (21%), thoracolumbar and left thoracic curves (13%), main lumbar (11%), and long C-shape curves (6%). Hyperkyphosis (>40°) was present in 66%, with an average kyphosis angle of 50° ± 3°, and anterior misalignment (>5°) occurred in 53%. The severity of the Cobb angle was neither correlated to the FA severity scores nor the age at FA diagnosis. An arthrodesis was performed in 9 patients, including 5 patients (45%) who were ambulatory at least 1 year after surgery. The prevalence of scoliosis in FA was high (71%), and thoracic hyperkyphosis, with anterior misalignment, was frequently observed, which might be related to the anterior imbalance frequently encountered in patients with an ataxia. Posterior fusion including sacral instrumentation was only performed in nonambulatory patients, and the loss of ambulation was not associated with spinal surgery. Level IV.