Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an antisense oligonucleotide that can enhance th...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-04-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.869230/full |
| _version_ | 1818477964582453248 |
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| author | Beiyu Xu Cuijie Wei Xiao Hu Wenzhu Li Zhen Huang Chengli Que Jianxing Qiu Chunde Li Hui Xiong |
| author_facet | Beiyu Xu Cuijie Wei Xiao Hu Wenzhu Li Zhen Huang Chengli Que Jianxing Qiu Chunde Li Hui Xiong |
| author_sort | Beiyu Xu |
| collection | DOAJ |
| description | BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an antisense oligonucleotide that can enhance the production of the SMN protein. Here, we report a case with scoliosis who received orthopedic surgery combined with Nusinersen intrathecal injections.Case PresentationScoliosis orthopedic surgery followed by Nusinersen intrathecal injections was given to a 16-year-old girl who had thoracic and lumbar scoliosis and type 3 SMA. Surgery was performed for T3-S2 posterolateral fusion (PLF), with a channel left on the vertebral laminae of L3-L4. The balance of the spine and pelvis was significantly improved and the height increased by 9 cm. Lumbar puncture was conducted with local anesthesia under ultrasound and CT guidance through the laminae channel and Nusinersen was successfully injected. Comparing the two approaches, real-time ultrasound guidance for intrathecal Nusinersen injections after spinal surgery is preferred, however, CT guidance is an alternative if the initial puncture procedure is difficult. After the aforementioned multidisciplinary treatment, a good outcome was achieved, as demonstrated by a 2-point increase in RULM and MFM32 scores 2 months later.ConclusionScoliosis orthopedic surgery combined with Nusinersen intrathecal injection is an effective treatment for SMA patients with scoliosis. |
| first_indexed | 2024-12-10T09:42:43Z |
| format | Article |
| id | doaj.art-f5f77f202d3e4372b05db3741dfc1ba0 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-10T09:42:43Z |
| publishDate | 2022-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-f5f77f202d3e4372b05db3741dfc1ba02022-12-22T01:53:56ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-04-011310.3389/fneur.2022.869230869230Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case ReportBeiyu Xu0Cuijie Wei1Xiao Hu2Wenzhu Li3Zhen Huang4Chengli Que5Jianxing Qiu6Chunde Li7Hui Xiong8Department of Orthopedic/Spine Surgery, Peking University First Hospital, Beijing, ChinaDepartment of Pediatrics, Peking University First Hospital, Beijing, ChinaDepartment of Anesthesiology, Peking University First Hospital, Beijing, ChinaDepartment of Rehabilitation Medicine, Peking University First Hospital, Beijing, ChinaDepartment of Rehabilitation Medicine, Peking University First Hospital, Beijing, ChinaDepartment of Respiratory and Critical Care Medicine, Peking University First Hospital, Beijing, ChinaDepartment of Radiology, Peking University First Hospital, Beijing, ChinaDepartment of Orthopedic/Spine Surgery, Peking University First Hospital, Beijing, ChinaDepartment of Pediatrics, Peking University First Hospital, Beijing, ChinaBackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an antisense oligonucleotide that can enhance the production of the SMN protein. Here, we report a case with scoliosis who received orthopedic surgery combined with Nusinersen intrathecal injections.Case PresentationScoliosis orthopedic surgery followed by Nusinersen intrathecal injections was given to a 16-year-old girl who had thoracic and lumbar scoliosis and type 3 SMA. Surgery was performed for T3-S2 posterolateral fusion (PLF), with a channel left on the vertebral laminae of L3-L4. The balance of the spine and pelvis was significantly improved and the height increased by 9 cm. Lumbar puncture was conducted with local anesthesia under ultrasound and CT guidance through the laminae channel and Nusinersen was successfully injected. Comparing the two approaches, real-time ultrasound guidance for intrathecal Nusinersen injections after spinal surgery is preferred, however, CT guidance is an alternative if the initial puncture procedure is difficult. After the aforementioned multidisciplinary treatment, a good outcome was achieved, as demonstrated by a 2-point increase in RULM and MFM32 scores 2 months later.ConclusionScoliosis orthopedic surgery combined with Nusinersen intrathecal injection is an effective treatment for SMA patients with scoliosis.https://www.frontiersin.org/articles/10.3389/fneur.2022.869230/fullSMAscoliosis orthopedic surgeryNusinersen intrathecal injectionreal-time ultrasound guidanceCT guidancecase report |
| spellingShingle | Beiyu Xu Cuijie Wei Xiao Hu Wenzhu Li Zhen Huang Chengli Que Jianxing Qiu Chunde Li Hui Xiong Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report Frontiers in Neurology SMA scoliosis orthopedic surgery Nusinersen intrathecal injection real-time ultrasound guidance CT guidance case report |
| title | Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report |
| title_full | Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report |
| title_fullStr | Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report |
| title_full_unstemmed | Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report |
| title_short | Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report |
| title_sort | scoliosis orthopedic surgery combined with nusinersen intrathecal injection significantly improved the outcome of spinal muscular atrophy patient a case report |
| topic | SMA scoliosis orthopedic surgery Nusinersen intrathecal injection real-time ultrasound guidance CT guidance case report |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.869230/full |
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