Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid
Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid
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DOI：
10.1016/j.braindev.2019.12.006
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发表时间：
2020-03-01
影响因子：
1.7
通讯作者：
Chiyonobu, Tomohiro
中科院分区：
文献类型：
--
作者：
Tozawa, Takenori;Kasai, Takashi;Chiyonobu, Tomohiro
背景资料：2018年7月，5例接受nusinersen治疗脊髓性肌萎缩症（SMA）的患者报告了一例罕见的严重不良反应（AE），即与脑膜炎或出血无关的交通性脑积水。一些患者使用脑室-腹膜分流（VPS）植入物进行管理，并继续接受nusinersen治疗。然而，关于诺西那生治疗VPS.Case患者的有效性和安全性的信息有限：一例女性患者在出生后不久表现出全身肌张力减退，并使用遗传分析诊断为脊髓性肌萎缩症。她从2个月大开始就需要永久性有创通气。她发展为进行性脑积水，并在婴儿期接受了VPS置入术。在她7岁时开始nusinersen治疗。nusinersen治疗后，脑脊液（CSF）中的神经丝轻链（NfL）浓度随时间推移而降低。自诺西那生治疗开始以来已过去12个月，未观察到AE。结论：即使在放置VPS后，诺西那生治疗也可能有效且安全。即使在SMA晚期，CSF中的NfL水平也可能是疾病活动/治疗反应的有价值的标志物。(C)2019日本儿童神经病学学会。Elsevier B. V.出版，保留所有权利。
Background: In July 2018, a rare and serious adverse effect (AE), namely, communicating hydrocephalus unrelated to meningitis or bleeding, was reported in relation to five patients treated with nusinersen for spinal muscular atrophy (SMA). Some patients were managed using a ventriculo-peritoneal shunt (VPS) implant and continued to receive nusinersen treatment. However, there is limited information concerning the effectiveness and safety of nusinersen treatment for patients with a VPS.Case report: A female patient exhibited general hypotonia soon after birth and was diagnosed, using genetic analysis, with spinal muscular atrophy. She required permanent invasive ventilation from 2 months of age. She developed a progressive hydrocephalus and underwent placement of a VPS in infancy. Treatment with nusinersen was initiated when she was 7 years old. The neurofilament light-chain (NfL) concentration in the cerebrospinal fluid (CSF) decreased over time with nusinersen treatment. Twelve months have passed since the start of nusinersen treatment and no AEs have been observed.Conclusion: Nusinersen treatment may be effective and safe, even after placement of a VPS. NfL levels in the CSF could be valuable markers of disease activity/treatment response even in advanced stages of SMA. (C) 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.