Surgical treatment of severe kyphoscoliotic spinal deformity in a 12-year-old female patient with type 3 gaucher disease: a clinical case

Gaucher disease (GD) is an autosomal recessive genetic disease characterized by the accumulation of glucocerebroside in the lysosomes of macrophages of the reticuloendothelial system with the development of cytopenia, hepatosplenomegaly, bone lesions, and, in some cases, neurological disorders. Skeletal manifestations vary in severity and usually affect long bones with clinical presentation of bone pain, bone crises, avascular necrosis, decreased bone mineral density, and pathological fractures. Involvement of the spine and chest in the form of their deformities has an unclear mechanism of development and is mostly applied in neuronopathic forms of the disease, in particular, the type 3 GD. The authors represent a unique clinical case of successful treatment of severe kyphoscoliotic deformity in an adolescent with the type 3 GD. The routine monitoring of the spine in patients with chronic neuronopathic GD is necessary in order to perform the timely surgical intervention and to prevent the progression of the spinal deformity and neurological deficit.