• Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang, and Shuyang Zhang.
• Anaesthesiology Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, and Peking Union Medical College, Shuaifuyuan 1#, Beijing, 100730, China.
• Orphanet J Rare Dis. 2021 Jun 13; 16 (1): 274.

BackgroundThis observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.ResultsIntrathecal 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.ConclusionsReal-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.

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