A rare case of inherited disorder with atypical imaging findings – A case report

Abstract

Gaucher’s disease (GD) is one of the most commonly known which is a progressive, rare hereditary disease, with an autosomal recessive inheritance pattern. It produces a deficiency in the activity of the enzyme beta-glucosidase provoking an accumulation of glucosylceramide in the lysosomes of different cells causing cytopenias, hepatosplenomegaly, changes in the central nervous system, and skeletal manifestations. The viscera most commonly involved with accumulation of Gaucher cells is the liver and spleen. Current recommendation for evaluating and monitoring visceral involvement is volumetric magnetic resonance imaging (preferred due to lack of ionizing radiation) or computed tomography every 12–24 months. Here, we report a case of GD presented with abdominal distension since past 3 months, decreased appetite since past 1 month, and breathlessness since past 1 month.