Surgical management of spinal involvement in children and adolescents with Gaucher's disease.

Abstract

Gaucher's disease is an uncommon hereditary glycolipid storage disorder characterized by the accumulation of glucocerebroside in the lysosomes of macrophages of the reticuloendothelial system. Skeletal manifestations are variable in severity and typically involve the long bones. Vertebral involvement is less well characterized, particularly in children and adolescents. We report on the surgical management of spinal involvement in four children and adolescents with Gaucher's disease; two for kyphotic deformity and two for kyphotic deformity associated with neurologic compromise. We recommend anterior spinal release with fusion and posterior spinal fusion with segmental instrumentation in cases of kyphotic deformity. In cases of spinal cord compromise at the apex of the kyphotic deformity with retropulsion of involved bone, anterior decompression also should be performed. Routine surveillance for spinal deformity in patients with Gaucher's disease is necessary to allow early intervention before the development of severe deformity and neurologic compromise.