Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature

Brain and Development Case Reports Pub Date : 2024-09-12 DOI:10.1016/j.bdcasr.2024.100039

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Abstract

Background

There is a risk of secondary communicating hydrocephalus in patients with 5q spinal muscular atrophy (SMA) treated with intrathecal nusinersen. The benefits and risks of intrathecal nusinersen treatment in SMA type 3 patients with ventriculoperitoneal shunt (VPS) due to hydrocephalus are unknown.

Case report

A female patient was diagnosed with hydrocephalus at 6 months owing to a progressive increase in head circumference and underwent VPS treatment at 7 months. Motor function development was delayed, and she was diagnosed with SMA type 3 at 41 months. Intrathecal nusinersen treatment was initiated when the patient was 51 months old. The results of the motor function rating scales showed significant improvement after 28 months of follow-up, and a CT scan of the head showed relief of the hydrocephalus. Serious adverse reactions were not observed.

Conclusion

Intrathecal nusinersen treatment is effective and safe after VPS surgery in SMA type 3 patients. Hydrocephalus is not a contraindication for intrathecal nusinersen treatment in SMA patients.

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一名中国脊髓性肌萎缩症3型患者脑室腹腔分流术后的鞘内奴西那生治疗：病例报告和文献综述

背景5q脊髓性肌萎缩症（5q spinal muscular atrophy，SMA）患者接受鞘内注射奴西能森（intraterhecal nusinersen）治疗有继发交流性脑积水的风险。病例报告一名女性患者在 6 个月时因头围逐渐增大而被诊断为脑积水，并在 7 个月时接受了脑室腹腔分流术（VPS）治疗。运动功能发育迟缓，41 个月时被诊断为 SMA 3 型。患者 51 个月大时开始接受鞘内努西能松治疗。随访 28 个月后，运动功能评分量表结果显示病情明显好转，头部 CT 扫描显示脑积水有所缓解。结论SMA 3 型患者接受 VPS 手术后，鞘内注射奴西那生治疗有效且安全。脑积水并非 SMA 患者鞘内努西那生治疗的禁忌症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Brain and Development Case Reports

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