Spinal Muscular Atrophy Case Study


Spinal Muscular Atrophy Case Study Figure 1

C.N is a 10-year old with kyphoscoliosis associated with type 2 spinal muscular atrophy (SMA). He presented with a 33 degree scoliosis and mild restrictive pulmonary function, routinely experiencing shortness of breath and requiring multiple respiratory treatments each day, and nightly BiPAP. Orthotic bracing was not optimal due to the risk of further restricting pulmonary function. Following several years of observation, C.N. presented at age nine with a scoliosis measuring 73 degrees (figure 1), pain when lying on his side, difficulty sitting in his wheelchair, and worsening pulmonary function. Internal stabilization of the spine was recommended to prevent further progression of the curvature and help improve spinal and thoracic alignment.


In April 2013, a segmental spinal fusion from T2-T5 and L4-S2 was performed, with insertion of a modified Luque trolley system of spinal instrumentation for treatment of the kyphoscoliosis (figure 2). This system differs from other stabilization systems used to treat spinal deformities in growing children, such as traditional spinal growing rods and VEPTRs (vertical expandable titanium rib). These devices are locked at length and require surgical procedures to manually lengthen the instrumentation every 4-6 months as the child grows. Alternatively, the modified Luque trolley instrumentation stabilizes the spine and allows the system components to remain unlocked; allowing free expansion as the child grows and eliminating the need for repeat surgeries


Spinal Muscular Atrophy Case Study Figure 2

With the insertion of the modified Luque trolley system, surgeons were able to achieve significant improvement in the alignment of the spine and torso, reducing the scoliotic curvature to approximately 28 degrees. C.N. is able to sit better in his wheelchair and his respiratory function has remained stable since surgery. His parents report that they are very satisfied with the outcome. Many children similar to C.N are being treated a Nationwide Children’s by surgeons with expertise in the management of early onset, congenital, neuromuscular, and idiopathic scoliosis. Newer techniques such as this epitomize the goal of best outcomes and hope to prevent future surgical procedures.