Addressing kyphoscoliosis in Gaucher's disease: a multidisciplinary approach to a rare case.

backgroundGaucher’s disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA gene, leading to glucocerebrosidase deficiency and the accumulation of glucosyl ceramide in the bone marrow, which can result in skeletal complications such as scoliosis and kyphosis. Surgical interventions for orthopedic manifestations in GD are challenging and have been rarely reported. STUDY

designA clinical retrospective study. CASE PRESENTATION: We report an 18-year-old female with Gaucher’s disease who presented with kyphoscoliosis and was treated with a combination of medical and surgical interventions. Preoperatively, she underwent enzyme replacement therapy and cephalic loop traction to correct anemia, coagulation abnormalities, and improve spinal deformity flexibility. She then underwent T12 column resectomy and Smith-Peterson resectomies at T5-10 and L1-3, followed by kyphoscoliosis correction, internal fixation, and fusion surgery. Postoperatively, there was a significant correction of the main coronal curve and kyphosis, with stable outcomes at the 3.5-year follow-up.

conclusionThis case represents a rare instance of kyphoscoliosis due to Gaucher’s disease treated with vertebral resection and fusion surgery. The perioperative management, including enzyme replacement therapy and spinal traction, was crucial for the surgical success. This report contributes to the understanding of surgical treatment options for severe spinal deformities in GD and highlights the importance of a multidisciplinary approach. Further studies with longer follow-up periods and additional cases are needed to validate the long-term effectiveness of this technique.