title: [Scoliosis in Rett syndrome--own experience].
abstract: Rett syndrome (RS) is a rare genetic disorder affecting only girls. The prevalence is 1:15000. The most characteristic features of RS are: lack of development, wringing of the hands. Musculoskeletal system is also affected and scoliosis remains the biggest challenge. Aim of paper is to describe the curve progression pre-operatively, course of surgery and finally radiological and subjective results of treatment. Postoperative follow-up was 3.1 year. We describe a series of 9 girls with RS and scoliosis treated surgically in single Institution. All presented scoliosis that increased with a rate of mean 16.1 degrees per year. Preoperatively curves ranged from 52 degrees up to 120 degrees Cobb angle. Curve pattern was similar in all cases, long thoraco-lumbar curve with thoracic hyperkyphoisis. All girls underwent surgery. Posterior fusion with Luque-Galvestone technique, posterior hybdrid fusion or anterior fusion was performed depending on the degree of scoliosis. Surgery and postoperative period were uneventful. Mean blood loss was 650 ml; mean obtained correction was 38%, with minimal correction loss at final follow-up. No additional surgery was required. Most caregivers were subjectively satisfied with surgery. Scoliosis in RS patients is progressive, with a high annual rate. Surgery should be performed I cases of curves of 40-50 degrees in specialized centers. The procedure is safe, and does not affect general condition nor deteriorate neurological status. In non-ambulant patients fusion should be carried out to the pelvis.
authors.affiliation: Klinika Ortopedii i Rehabilitacji, Collegium Medicum Uniwersytetu Jagielloriskiego w Krakowie. tomaszpotaczek@gmail.com
authors.forename: Tomasz
authors.initials: T
authors.lastname: Potaczek
authors.forename: Barbara
authors.initials: B
authors.lastname: Jasiewicz
authors.forename: Maciej
authors.initials: M
authors.lastname: Tesiorowski
authors.forename: Andrzej
authors.initials: A
authors.lastname: Smetkowski
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016268:Internal Fixators; D019637:Orthopedic Procedures / Q000379:methods; D011044:Poland; D016059:Range of Motion, Articular; D015518:Rett Syndrome / Q000150:complications / Q000601:surgery*; D012600:Scoliosis / Q000209:etiology / Q000601:surgery*; D013123:Spinal Fusion / Q000379:methods*; D016896:Treatment Outcome