Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease.

A 46-year-old woman with Gaucher's disease (GD) consulted our clinic for abdominopelvic magnetic resonance imaging (MRI), as physical examination had revealed hepatosplenomegaly. Upper abdominal MRI showed massive hepatosplenomegaly and innumerable hypointense splenic nodules on T1-weighted images. Diffusion-weighted MRI (DW-MRI) and magnetic resonance spectroscopy (MRS) were performed to liver parenchyma and splenic nodules. MRS revealed lactate, lipid, acetate, and alanine peaks in splenic nodules, and choline, creatine, lipid, myo-inositol-glycine, and lactate peaks in the liver parenchyma. The DW-MRI showed diffusion restriction in splenic nodules. It was concluded that MRI is a reliable method for the diagnosis and follow up of GD. Coupling DW-MRI and MRS allows quantitative evaluation, thereby increasing the efficacy of the method. This is the first report in the literature presenting advanced abdominal MRI findings in GD.