Background:
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an antisense oligonucleotide that can enhance the production of the SMN protein. Here, we report a case with scoliosis who received orthopedic surgery combined with Nusinersen intrathecal injections.
Case presentation:
Scoliosis orthopedic surgery followed by Nusinersen intrathecal injections was given to a 16-year-old girl who had thoracic and lumbar scoliosis and type 3 SMA. Surgery was performed for T3-S2 posterolateral fusion (PLF), with a channel left on the vertebral laminae of L3-L4. The balance of the spine and pelvis was significantly improved and the height increased by 9 cm. Lumbar puncture was conducted with local anesthesia under ultrasound and CT guidance through the laminae channel and Nusinersen was successfully injected. Comparing the two approaches, real-time ultrasound guidance for intrathecal Nusinersen injections after spinal surgery is preferred, however, CT guidance is an alternative if the initial puncture procedure is difficult. After the aforementioned multidisciplinary treatment, a good outcome was achieved, as demonstrated by a 2-point increase in RULM and MFM32 scores 2 months later.
Conclusion:
Scoliosis orthopedic surgery combined with Nusinersen intrathecal injection is an effective treatment for SMA patients with scoliosis.