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  • Publication : 02 09 2018
  • Catégorie :La recherche médicale et génétique

Ultrasound-guided cervical puncture for nusinersen administration in adolescents.    

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal-recessive disease affecting motor neurons and is the most common genetic cause of death in infants. Intrathecal nusinersen is the only therapy approved by the U.S. Food and Drug Administration for SMA. Deformities and spinal instrumentation from orthopedic surgeries are common in children with SMA, complicating traditional intrathecal access for nusinersen delivery. Cervical punctures are routinely performed in adults for cervical myelograms and should be considered for children with SMA as a viable form of intrathecal access.
OBJECTIVE: This retrospective study assessed technical feasibility and complications of ultrasound-guided cervical puncture for nusinersen administration.
MATERIALS AND METHODS: We reviewed 14 consecutive ultrasound-guided cervical punctures for nusinersen administration with local anesthesia. We reviewed technical success and complications.
RESULTS: All procedures were technically successful. There were no major complications. Two minor complications included headaches that resolved by observation within 24 h after the procedure.
CONCLUSION: Our series describes a successful novel method of ultrasound-guided cervical spine access for intrathecal administration of nusinersen, adding to the armamentarium of procedures for delivering nusinersen to adolescents with challenging lumbar spine access caused by scoliosis and spinal instrumentation. This technique has the advantages of real-time ultrasound guidance and potential avoidance of general anesthesia in children.

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