How to prevent small stature in Rett syndrome-associated collapsing spine syndrome

Severe scoliosis in Rett syndrome is an important orthopedic, neurologic, and pediatric problem. The curve in Rett syndrome is of a neurologic type, has its highest incidence during early childhood, and shows rapid progression. In this study, the authors report the results of a 4-year follow-up of a 10-year-old Rett syndrome female patient with early onset and severe rapid progressive thoracolumbar scoliosis. The first signs of spinal deformity were documented at age 3 years. During adolescence, the patient developed a 115-degree thoracolumbal scoliosis with reduced respiratory volume due to a collapsing spine syndrome. To stop this life-threatening progression of the curve, the patient was treated by a 2-stage surgical procedure. The combination of an anterior release, halo traction, and posterior instrumented fusion from Th3 to L5 using a computer-assisted technique was performed. An excellent reduction of the deformity was achieved (postoperative 24-degree Cobb angle). After 4 years, the authors found a radiologically solid spinal fusion and no progression of the deformity. Operative treatment regimes and etiology of severe spinal deformities in Rett syndrome were discussed. The high perioperative risks in Rett syndrome patients who underwent spinal surgery may be reduced by an early cooperation between orthopedic and pediatric specialists. When considering recent data from literature, it can be concluded that an early correction of spine deformities in Rett syndrome patients may prevent a life-threatening collapsing spine syndrome.