Gaucher disease type 3 presenting with deformation of inferior limbs and bone infarction: A case report

Abstract

Introduction: Gaucher disease (GD) is a lysosomal storage disorder characterized by the accumulation of glucocerebroside in various cells throughout the body. Bone infarction is a common and fearsome complication. Case Report: We present the case of a 5-year-old child diagnosed with Gaucher disease type 3, who exhibited deformation of the inferior limbs and bone pain. Upon evaluation, radiographic examination of the limbs revealed a characteristic triangular appearance of the metaphysis and a serpiginous sclerotic area. A magnetic resonance imaging was performed to confirm the diagnosis of bone infarction. Conclusion: Gaucher disease is a complex genetic disorder. Bone involvement is a significant manifestation causing pain, bone crises, deformities. Various imaging techniques can help for an accurate diagnosis and for a timely intervention and prevention of the disease progression.