Ultrasound-assisted intrathecal injection of nusinersen in a patient with severe vertebral deformity: a case report

Abstract

Background: Spinal muscular atrophy (SMA) is a mostly autosomal recessive genetic disease characterized by progressive muscle weakness from anterior horn degeneration. Nusinersen has recently been approved as a disease-modifying drug for SMA that needs to be administered intrathecally. Its injection is often associated with extreme difficulty since patients with SMA have severe vertebral deformity and may be with vertebral instrumentation. Case description: A 21-year-old female with type 2 SMA and spinal deformity underwent a series of intrathecal injections of nusinersen. The intrathecal injections have been safely and successfully done by using computed tomography imaging and ultrasonography-assisted technique. Conclusion: This the first report in which ultrasound-assisted technique has been used for the injection of nusinersen through a lumbar puncture in patients with severe spinal deformity. Use of preprocedural ultrasound imaging is highly recommended for treatments that repeatedly require intrathecal access.