Contribution of Radiology in the Diagnosis of Gaucher Disease: A Case Report

Abstract

Gaucher disease is a rare, autosomal recessive genetic disorder; caused by a deficiency in the activity of the lysosomal enzyme glucocerebrosidase which is responsable for the degradation of glucosylceramide. The enzyme substrate, accumulates in the body, predominantly in the liver, spleen, and bone marrow causing hematological abnormalities, splenohepatomegaly, and skeletal disorders. The Gaucher disease has been classified into 3 phenotypes, distinguished on the basis of the absence or presence and severity of central nervous system damage, type I with no neurological involvement is the most common. The diagnosis is suspected when there is a combination of clinical, biological and radiological evidence and is confirmed by an enzyme assay showing deficient glucocerebrosidase enzyme. MRI is the most appropriate examination to visualize the different aspects of gaucher diseas. Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy; ERT was effective in reducing the liver and spleen size, the bone symptoms, and improving blood counts.