Posterior spinal fusion for kyphoscoliosis in patients with Pompe disease under long-term enzyme replacement therapy: A case report

Abstract

Background

Pompe disease (PD), an inherited glycogen storage disease, is essentially treated with enzyme replacement therapy (ERT). However, a standard treatment for spinal deformities secondary to PD has not been established.

Case presentation

A 16-year-old boy was diagnosed with PD at the age of 4 years, and ERT was started. He had severe kyphoscoliotic deformity for which he underwent posterior spinal correction and fusion surgery from T2 to L4. He had become able to sit for a longer period, and his pain was reduced. Three years postoperatively, radiographic parameters were maintained, with a good quality of life.

Conclusions

ERT has been associated with a longer survival rate, and management of spinal deformities is becoming more important for patients with PD surviving around puberty. Despite continuous ERT, PD progressively affects the entire spine. In this case, the fusion area was determined from the upper thoracic vertebra to the lower lumbar vertebra or pelvis according to the surgical strategy for neuromuscular scoliosis.