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. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Degnan Andrew, Serai Suraj, Ho-fung Victor, Barrera Christian, Wang Dah-jyuu, Ahrens-nicklas Rebecca, Ficicioglu Can

Keywords: Gaucher disease, bone marrow, hepatic involvement

Proton MRS (1H-MRS) is a technique to non-invasively study brain metabolites in vivo. 1H-MRS has been shown to detect abnormal brain accumulation of lactate in primary mitochondrial disorders (PMDs). However, differences in lactate concentration among the different PMDs have not been explored. We aimed to explore differences in quantitative 1H-MRS derived metabolite concentrations, particularly of lactate, and their ratios, in PMDs. We analyzed quantitative 1H-MRS data of the brain in pediatric patients with different types of genetically confirmed PMDs to evaluate differences in metabolite concentration and ratios. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Goncalves Fabricio, Wang Dah-jyuu, Goldman-yassen Adam, Martin-saavedra Juan, Alves Cesar Augusto, Teixeira Sara, Andronikou Savvas, Vossough Arastoo

Keywords: MR Spectroscopy, Mitochondrial, LCModel