Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS Università Cattolica del Sacro Cuore, Rome, Italy.
Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Rome, Italy.
Ann Clin Transl Neurol. 2020 Dec;7(12):2481-2483. doi: 10.1002/acn3.51126. Epub 2020 Nov 4.
A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and had increasing cardiac and autonomic dysfunction leading to exitus at 5 months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.
一名患有 0 型 SMA 的男性婴儿，携带一份 SMN2 拷贝，在 13 天大时接受了 nusinersen 的早期治疗。他在治疗开始后 2 个月表现出轻微的运动改善，但尽管也表现出一些最小的呼吸改善，仍在 4 个月大时需要进行气管切开术，并出现了越来越多的心脏和自主神经功能障碍，导致在 5 个月时死亡。我们的发现，扩展了可用的 nusinersen 结果，证实了它在最严重受影响的婴儿中的相对疗效，并提供了临床证据，以便在讨论治疗严重婴儿的请求时使用。
