Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

Abstract

Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages ("Gaucher cells") within multiple organs, most conspicuously affecting the liver, spleen, and bone marrow. As the most common glycolipid metabolism disorder, it is important for radiologists encountering these patients to be familiar with advances in imaging of organ and bone marrow involvement and understand the role of imaging in clinical decision-making. The recent advent of commercially available, reliable, and reproducible quantitative MRI acquisitions to measure fat fractions prompts revisiting the role of quantitative assessment of bone marrow involvement. This manuscript reviews the diverse imaging manifestations of Gaucher disease and discusses more optimal quantitative approaches to ascertain solid organ and bone marrow involvement with an emphasis on future applications of other quantitative methods including elastography.

Keywords: Bone marrow infiltration; Gaucher disease; Lysosomal storage disorder; Quantitative MRI; Treatment monitoring.

Fig. 1

Three-dimensional reconstructions of liver and spleen volumes from MRI in Gaucher disease. Volume-rendered organ volume reconstructions generated from non-contrast MRI data were used to track treatment response in a 9-year-old male with Gaucher disease. Organ volumes for the liver (1241 mL, 1.03 MN) and spleen (526 mL, 5.44 MN) are decreased from a prior examination at 6 years of age (1.35 MN and 6.43 MN, respectively)

Fig. 2

Liver cirrhosis in pediatric Gaucher disease. Sagittal grayscale ultrasound demonstrates an enlarged liver with nodular cirrhotic morphology and perihepatic ascites in a 12-year-old male with Gaucher disease

Fig. 3

Focal Gaucher cell accumulation in the liver. Axial non-contrast abdominal CT (a) demonstrates a focal hypoattenuating hepatic lesion (arrow) in the posterior right hepatic lobe in 10-year-old male with type 1 Gaucher disease. At follow-up at 16 years of age with unenhanced MRI, lesion (arrow) was unchanged in size with T1-weighted hypointense (b) and mixed T2-weighted signal intensity (c). Findings are most consistent with focal Gaucher cell deposition (“Gaucheroma”)

Fig. 4

Spleen fibrosis in pediatric Gaucher disease. Axial MR elastography of a 13-year-old patient with newly diagnosed, untreated type 1 Gaucher disease demonstrates elevated spleen stiffness values (6.27 kPa, abnormal defined greater than 3.6 kPa), but no significant hepatic fibrosis identified (2.19 kPa, abnormal defined greater than 2.9 kPa)

Fig. 5

Splenic necrosis in pediatric Gaucher disease. Transverse grayscale abdominal ultrasound (a) of a 2-year-old male Gaucher disease patient with marked splenomegaly shows replacement of normal splenic parenchyma with fluid and hyperechoic regions corresponding to dystrophic calcification. Contrast-enhanced abdominal CT (b) of this patient demonstrates enlarged spleen replaced with liquefying necrosis and peripheral dystrophic calcifications

Fig. 6

Spectrum of musculoskeletal involvement in Gaucher disease. Nearly all type 1 Gaucher disease patients experience musculoskeletal manifestations ranging from marrow infiltration and osteopenia to pathologic fractures and compression deformities of the spine

Fig. 7

Erlenmeyer flask deformity. Frontal radiograph of the right knee in a 12-year-old-male Gaucher disease patient with widening of the distal femoral diaphysis and metaphysis resulting in Erlenmeyer flask deformity

Fig. 8

Marrow infiltration in Gaucher disease. A 30-year-old female with type 1 Gaucher disease with shoulder pain. Coronal T1-weighted imaging demonstrates diffuse hypointense infiltration of the humerus including the proximal epiphysis compared to subcutaneous fat

Fig. 9

Magnetic resonance spectroscopy assessment of marrow response to treatment. Gaucher disease patient with first imaging at 15 years of age subsequently treated with ERT. Magnetic resonance spectroscopy spectra (left) show increasing fat-fraction on follow-up examinations. Conventional T1-weighted coronal images (right) of the right femur demonstrate diffuse marrow infiltration with subtle fat infiltration with time

Fig. 10

Bone infarct and subperiosteal hemorrhage mimicking osteomyelitis in Gaucher disease. A 13-year-old male presented with atraumatic knee pain and swelling. Initial lateral knee radiograph (a) showed subtle periosteal reaction along the posterior metadiaphysis of the distal femur and ill-defined intramedullary sclerosis within the femoral shaft. Follow-up MRI demonstrated intramedullary marrow edema and focal subperiosteal fluid with surrounding inflammatory changes in the popliteal fossa thought to be related to subperiosteal hemorrhage on axial T2-weighted image (b). Coronal post-contrast T1 fat-saturated image (c) demonstrated peripheral serpentine enhancement of areas of bone infarction within the distal femur. The patient was subsequently diagnosed with Gaucher disease after initial workup for hematopoietic malignancy