Bone Diseases as the only clinical manifestation of gaucher disease type

Abstract

Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most commonly affected structure, presenting bone infiltration and macrophage interleukins that determine osteoblast/osteoclast imbalance and a deleterious effect on bone. This impacts a patient’s quality of life, causing pain, fracture, and orthopedic surgery require ments. We present a patient without hematologic or viscera involvement but with skeletal manifestations as the only clini cal finding.