[Scoliosis in Rett syndrome--own experience]. / Skolioza u chorych z zespolem Retta--doswiadczenia wlasne.

ABSTRACT

Rett syndrome (RS) is a rare genetic disorder affecting only girls. The prevalence is 115000. 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.