Gaucher disease – bone involvement

Gaucher disease (GD) is a rare genetic disease caused by the enzymatic deficiency of beta-glucocerebrosidase. This will lead to the accumulation of sphingolipids in various organs, such as liver, spleen, bone marrow. Bone involvement is frequent in Gaucher patients, leading to bone pain, necrosis and even fractures or growth deficiency in children, with painful surgeries and progressively decreasing quality of life. The early treatment initiation in symptomatic patients is very important in lowering bone complications frequency and improve general status. We present the case of a young patient whose first manifestation of GD was a bone cystic lesion and the clinical evolution until treatment.