Spinal fusion as a viable treatment option for scoliosis management in Pompe disease: a postoperative 3-year follow-up.

Purpose: This study presents 3-year postoperative outcomes of posterior spinal correction and fusion of a patient diagnosed with late-onset Pompe disease (PD) for his progressive scoliosis.

Methods: The patient was diagnosed for PD during his infancy. Enzyme replacement therapy (ERT) was initiated at the age of 13. First office visit for his spinal deformity was at the age of 15, and 40°, 34°, 6° spinal curvatures were seen in T6-L3, T1-6, and L3-S, respectively. Reduced pulmonary function, limited gait function and atrophied limb were documented. Initial brace treatment could not control curve progression; therefore, posterior spinal correction and fusion were performed at the age of 17.

Results: Immediate preoperative curves of 55°, 42° and 23° were corrected to 18°, 26° and 7° in T6-L2, T1-T6 and L2-S, respectively. Spinal fusion was performed from T3 to L4. The patient exhibited an excessively low pulmonary function preoperatively with a VC, FVC, and %VC of 1.45 L, 1.36 L, and 35 %, respectively. This has been managed with only moderate reductions despite reduced pulmonary function from PD throughout the operative period and at 3 years. At the final follow-up, VC, FVC and %VC were 1.33 L, 1.12 L and 28.5 %, respectively.

Conclusion: Posterior spinal correction and fusion adequately controlled spinal curvatures for 3 years after surgery. Additionally, pulmonary function was managed throughout the follow-up period. Despite ERT, skeletal muscle and pulmonary function can still be severely affected by PD. Spinal correction and fusion is a useful method for the management of spinal curvature and pulmonary function in patients with PD.