Johannsen Jessika, Weiss Deike, Schlenker Friderike, Groth Michael, Denecke Jonas
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Department of Pediatric Radiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Neuropediatrics. 2021 Jun;52(3):179-185. doi: 10.1055/s-0040-1718916. Epub 2020 Dec 4.
Spinal muscular atrophy (SMA) is a rare neurodegenerative disease leading to progressive muscular atrophy, respiratory failure, and premature death. Secondary thorax and spine deformities are frequent. In July 2017, the antisense oligonucleotide nusinersen (Spinraza) was approved for the recurrent lifelong intrathecal treatment of SMA in Europe. Lumbar punctures are challenging especially in SMA patients with severe spine deformities and after spine surgery. In the light of alternative SMA therapies that are available or are expected to be available soon and which are administered orally or via one-time infusion, an appraisal of the established therapy is significant. Discussion about which therapy is the best for each individual patient will have to include not only the safety and efficacy of data but also the application form and its burden for the patient and the health care system. Therefore, we analyzed our 3-year experiences and challenges with 478 lumbar puncture procedures in 61 pediatric SMA patients with and without spine deformities or instrumentation.
脊髓性肌萎缩症（SMA）是一种罕见的神经退行性疾病，可导致进行性肌肉萎缩、呼吸衰竭和过早死亡。继发性胸廓和脊柱畸形很常见。2017年7月，反义寡核苷酸诺西那生钠（Spinraza）在欧洲被批准用于脊髓性肌萎缩症的终身鞘内重复治疗。腰椎穿刺具有挑战性，尤其是对于患有严重脊柱畸形的脊髓性肌萎缩症患者以及脊柱手术后的患者。鉴于现有的或预计很快就会有的其他脊髓性肌萎缩症治疗方法是口服给药或一次性输注，对既定疗法进行评估具有重要意义。关于哪种疗法最适合每个患者的讨论不仅要包括数据的安全性和有效性，还要包括给药方式及其对患者和医疗保健系统的负担。因此，我们分析了我们在61例患有或不患有脊柱畸形或器械植入的小儿脊髓性肌萎缩症患者中进行478次腰椎穿刺手术的3年经验和挑战。
