Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study

BACKGROUND: This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis. RESULTS: Intrathecal nusinersen via real-time ultrasound-guided lumbar puncture was given to three patients who had severe thoracic and lumbar scoliosis: a 34-year-old female with type 3a SMA, a 28-year-old male with type 2a SMA, and a 14-year-old girl with type 3a SMA. Lumbar puncture was performed without sedation under ultrasound guidance using a 22G echogenic needle in the interlaminar aspect of the L4–L5 or L5–S1 interspace and a full dose of nusinersen (12 mg/5 mL) was injected after visualizing free cerebrospinal fluid flow. Patients completed their four loading doses and one maintenance dose of nusinersen. All 15 procedures were successful and well tolerated. CONCLUSIONS: Real-time ultrasound-guided lumbar puncture is an effective and radiation-free technique to administer intrathecal nusinersen in SMA patients with severe scoliosis when done by practitioners with expertise in this procedure. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01903-4.