Spine deformities in rare genetic diseases ??? results of operative treatment

Introduction. Spine deformities in genetic syndromes may be of various shape and size. The goal of this study is to describe scolioses in rare congenital diseases, taking into consideration morphology of deformity and to evaluate the results of treatment. Material consists of 11 patients who underwent surgery in one hospital between 2003 and 2010. The mean patients’ age at surgery was 13.5 yrs. Their primary diseases included: Melnick, Williams, Willi-Prader, Bardet-Biedl, Freeman-Sheldon, Rubinstein-Taybi, Langer-Giedion, Gorlin-Goltz, DiGeorge syndromes and deletion in 13th chromosome. Patients were operated with spine fusion in 9 cases and with “growing spine” implants in 2 cases. The mean follow up period was 2.7yrs. Results. Prior to surgery, an average Cobb angle was 90.5o in thoracic spine and 65.2o in lumbar spine. After surgery, the mean Cobb angle was 53oin thoracic spine and 45,2o in lumbar spine (42% and 29% of correction,). After follow up period, the mean Cobb angle was 55.8o and 44.3o, respectively (final correction: 38% and 31%). Trunk decompensation in all planes that was not possible to correct during treatment was a problem occurring in most cases. Complications were noted in 6 patients: “growing rods” implants destabilisation that required changes of implants’ levels – in 1 case, screws breakage, hook displacement – 3 cases, pain due to increasing lumbar spine decompensation – 1 case, curve progression below fusion – 1 case (lumbar fusion was done 2 years after primary surgery). Conclusions. Spinal deformities in rare congenital syndromes are various, and their treatment should be assessed individually. There is a significant probability of different balance disturbances both in coronal and sagittal planes, and decompensation existing before treatment is very difficult to be corrected.