Research

Introduction: Central core disease is a rare congenital myopathy with a reported association with kyphoscoliosis. A case report is presented of two siblings (female age 14 and male age 17) presented with severe kyphoscoliosis and history of malignant hyperthermia. Both were non-ambulatory and wheelchair bound. Posterior elements in both patients were auto-fused and necessitated alteration in surgical technique to attain correction of the deformity.

Results: The female patient underwent anterior release and discectomy from T9 to the sacrum with multiple closing wedge osteotomies, followed by four weeks of halo traction, before the posterior portion of this staged procedure. Posterior elements were found to be auto fused at several levels, primarily at the facet joints, necessitating lateral closing wedge osteotomies and pedicle screw fixation for closure and curve correction from T11 to L4 were required. Complete release of the right lumbo-dorsal fascia off the ilium along with iliac screws was required to achieve the final correction.

The male patient underwent a single stage procedure including anterior release, discectomies and lateral closing wedge osteotomies from T11 to the sacrum followed by posterior fusion. Upon posterior exposure, the facets were found to be auto fused at every level, except L4/5, and the ligamentum flavum was ossified. Closing wedge osteotomies were completed along the convexity of the curve from T12 to L3, with distal pedicle screws, proximal hooks, and sublaminar wires at intermediate levels providing correction. Instrumentation and fusion was attained from T8 to the sacrum.

Conclusions:
A diagnosis of central core disease must be considered in patients presenting with kyphoscoliosis and myopathic symptoms. This kyphoscoliosis may be progressive and become severe. Surgical intervention of severe kyphoscoliosis in patients with central core disease may be complicated by posterior element auto fusion necessitating alteration in surgical technique to attain correction of the deformity. Despite the risks of malignant hyperthermia and the difficulty of surgical correction good clinical improvements can be obtained even in cases of severe deformity.