Abstract
Introduction: Gaucher's disease is a congenital metabolic disorder characterized by the accumulation of glucocerebroside in the reticuloendothelial system. Its clinical manifestations include splenomegaly, osteopenia, and pathological fractures. Cases of patients with kyphotic deformities caused by pathological vertebral compression fractures associated with Gaucher's disease are well reported. However, there has been no report regarding surgical treatment of kyphotic deformity caused by Gaucher's disease without compression fractures. In the present report, we describe surgical treatment for kyphotic deformity caused by Gaucher's disease without a past history of vertebral compression fractures.
Case Report: The patient was diagnosed with Gaucher's disease at the age of 15 months. The patient was a 10-year-old girl with progressive kyphosis (84° between T6 and L3, with T12 as the apical vertebra) without compression fractures. Although the patient had been treated using a brace since the age of 3 years, the kyphosis progressed to the point where corrective surgery was required. We initially performed T3-L3 posterior spinal fusion, followed by anterior fusion 3 months later, which corrected the kyphosis to 35°. Postoperatively, the patient suffered fractures of the upper and lower extremities but did not have spinal fractures.
Conclusions: Two-stage anterior/posterior combined correction and fusion was performed in a patient with kyphotic deformity caused by Gaucher's disease without compression fractures. Because of bone fragility in Gaucher's disease, careful selection of the fusion range and postoperative therapy was necessary.
