Spinal muscular atrophy (SMA) is an autosomal recessive hereditary neurodegenerative disease causing progressive muscle atrophy, weakness and kyphoscoliosis. Nusinersen is a therapeutic agent for SMA that should be administered intrathecally. However, due to severe kyphoscoliosis, lumbar puncture can be challenging. Here, we present our experience of intrathecal administration of nusinersen in an SMA patient with severe kyphoscoliosis using a life-size three-dimensional printing (3D) skeletal model created with 3D printer. With this strategy, we were able to rapidly and safely perform the lumbar puncture.
- diagnostic techniques and procedures
- injections, spinal
- multimodal imaging
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Contributors HA conceived the original idea, performed practical procedure and prepare manuscript. RI performed practical procedure. RT performed practical procedure. KA revised manuscript. KI supervised handling of 3D-CT data. MK handled 3D-CT data and created the skeletal model. JH handled 3D-CT data and created the skeletal model. MS acquired funding, revised manuscript and approved final manuscript.
Funding This study was funded by JSPS KAKENHI grant number 19H03749.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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