Gaucher disease is an inherited metabolic disorder due deficiency of the lysosomal enzyme β-glucocerebrosidase that results in the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting the liver, spleen and bone marrow. As the diagnosis is increasingly made during childhood and young adulthood, pediatric radiologists should be familiar with imaging features of Gaucher disease and its complications. Visceromegaly consisting of hepatosplenomegaly is a hallmark of Gaucher disease and uniformly present in cohorts of pediatric patients. In addition, bone marrow involvement with ‘Erlenmeyer flasks’ have been long recognized as part of this disease, although the classic radiographic finding is not present until adulthood. Marrow involvement confers significant morbidity for these patients with pain, bone infarcts and pathologic fracture. Traditionally, imaging of disease severity has been based on hepatic and splenic visceral organ enlargement and/or qualitative assessment of bone marrow involvement. However, advances in the understanding of Gaucher disease and observations of elevated ferritin levels and increased risk of hepatic fibrosis emphasize the importance of more comprehensive assessment of liver involvement beyond simple enlargement. Moreover, quantitative MRI assessment of bone fat-fractions also may have a role in assessing marrow involvement. These methods of disease assessment are important in addressing management decisions regarding enzyme replacement and substrate reduction therapy.
SPR 2019 Annual Meeting & Postgraduate Course