Imaging of gaucher disease

Abstract

Gaucher disease is the prototypical lysosomal storage disease. It results from the accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver due to deficiency of the enzyme glucocerebrosidase. This leads to hematologic, visceral and skeletal maifestions. Build up of glucosylceramide in the liver and spleen results in hepatosplenomegaly. The normal bone marrow is replaced by the accumulating substrate leading to many of the hematologic signs including anemia. The visceral and skeletal manifestations can be visualized with various imaging modalities including radiography, computed tomography, magnetic resonance imaging (MRI) and radionuclide scanning. Prior to the development of enzyme replacement therapy, treatment was only supportive. However, once intravenous enzyme replacement therapy became available in the 1990s it quickly became the standard of care. Enzyme replacement therapy leads to improvement in all manifestations. The visceral and hematologic manifestations respond more quickly usually within a few months or years. The skeletal manifestations take much longer, usually several years, to show improvement. In recent years newer treatment strategies, such as substrate reduction therapy, have been under investigation. Imaging plays a key role in both initial diagnosis and routine monitoring of patient on treatment particularly volumetric MRI of the liver and spleen and MRI of the femora for evaluating bone marrow disease burden.

Whole‐body MRI of bone marrow: A review

“…Medullary infarcts typically appear as serpiginous regions of low T 1 signal intensity with corresponding STIR hyperintensity, classically in the tibiae. Pathologic fractures and osteopenia are also seen . The Erlenmeyer flask deformity is typical of Gaucher' disease and is characterized by undertubulation of the long bones and “flaring,” classically of the distal femoral metaphyses with associated cortical thinning …”

Gaucheroma hepático. Un pseudotumor que puede confundir al radiólogo. Reporte de un caso

“…Eso conduce a un acúmulo del mismo en los lisosomas de macrófagos de los tejidos del sistema reticuloendotelial. 1 En la literatura existen pocos casos publicados sobre las características por imagen de esa entidad benigna. Nuestro objetivo es describir los hallazgos por tomografía computada (TC) de la lesión hepática focal que puede simular una hiperplasia nodular focal (HNF) o un carcinoma hepatocelular (HCC) con cicatriz central.…”

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease

“…scoring is also not ideal as it is not standardized, unreliable, and only assesses bone marrow (Unal et al, 2014). MRI chemical shift imaging based bone marrow fat fraction has been shown to be a valid technique for assessing GD and treatment effect, however the method is difficult to replicate outside academic imaging centers (Simpson et al, 2014;van Dussen et al, 2014). Micro imaging has been used to characterize bone microarchitecture in osteoporosis and osteoarthritis (Kapadia et al, 1998;Majumdar and Genant, 1995;Patsch et al, 2011;Rajapakse et al, 2010).…”

“…Marrow composition and vascular changes as well as cortical and trabecular bone derangement occur in varying degrees. These have predominantly been investigated using magnetic resonance imaging (MRI) Simpson et al, 2014). The three most common mutations in GBA affecting type 1 GD individuals are the N370S, L444P and 84GG alleles (Nagral, 2014).…”