Abstract

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.