Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

Abstract

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.

Fisioterapia combinada ao medicamento Spinraza na Atrofia Muscular Espinhal Tipo 2

“…Tem como objetivo postergar a progressão da doença e reduzir as complicações respiratórias, ortopédicas e intestinais 8 . Esse medicamento só pode ser administrado via intratecal por meio da punção lombar 9 , dado a sua incapacidade de passar pela barreira hematoencefálica 10 Foram coletados dados de 204 pacientes com AME (tipo 1 ou 2), foram incluídos 123 que foram tratados por pelo menos 1 ano. Os escores foram maiores nas partes de função motora axial e proximal (D2) e função motora distal (D3) da escala The Motor Function Measure (MFM), mas não houve diferença significante para os escores em pé e de transferência (D1).…”

“…Xu 2022 10 Relatar um caso de AME com escoliose submetido a cirurgia ortopédica seguida de injeções intratecais de nusinersena.…”