A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease.

STUDY

DESIGN

A case report of two siblings (ages 14 and 17 years) with central core disease and prior malignant hyperthermia successfully treated with spinal fusion surgery for severe kyphoscoliosis.

OBJECTIVES

Our objectives were as follows: to describe the previously unreported findings of posterior element autofusion and ligamentum flavum ossification; to increase surgeon awareness to the nature of this condition and associated findings; and to prepare the surgeons for the possibility of autofusion and the required surgical modifications, including extensive osteotomies at the time of spinal fusion surgery to achieve correction based on these findings.

SUMMARY OF BACKGROUND DATA: Central core disease is a rare congenital myopathy with a reported association with kyphoscoliosis. Spinal deformity of this severity in central core disease has not previously been reported in the literature.

METHODS

Two siblings with central core disease, history of malignant hyperthermia, and severe kyphosing scoliosis (187 degrees and 108 degrees) underwent correction of deformity and spinal fusion surgery. The clinical, operative, and radiographic features are detailed.

RESULTS

The spinal deformities associated with central core disease in these 2 cases were severe. The posterior elements underwent autofusion necessitating alteration in surgical technique to correct the deformity. Despite the risks of malignant hyperthermia and the difficulty of surgical correction, good clinical improvements can be achieved even in cases of severe deformity.

CONCLUSIONS

A diagnosis of central core disease must be considered in patients presenting with severe spinal deformity and myopathic symptoms. This spinal deformity may be progressive and become severe. Surgical intervention in these cases may be complicated by posterior element autofusion necessitating alteration in surgical technique to correct the deformity. Despite the risk of malignant hyperthermia, surgery may be performed safely.