MediAI

  Abstract Gaucher’s disease is the most prevalent lysosomal storage disorder, caused by a deficiency of the enzyme β-glucocerebrosidase, leading to progressive accumulation of glucocerebroside within macrophages across multiple organ systems. This column provides an expert-level, academic review of Gaucher’s disease, emphasizing pathophysiology, epidemiology, clinical manifestations, imaging features, differential diagnosis, diagnostic workflow, treatment strategies, and prognosis. The discussion integrates classical radiographic findings such as the Erlenmeyer flask deformity, quantitative imaging modalities including MRI and dual-energy CT, and nuclear medicine techniques such as Xe-133 bone scans. Using the attached case of a 43-year-old male with bone pain, we demonstrate how radiologic findings combined with biochemical and genetic testing confirm Gaucher’s disease. Imaging figures are interpreted with detailed radiologic captions to guide clinicians and radiologists in recog...