Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia

Abstract

Background: Gaucher's disease is a rare Lysosomal Storage Disorder (LSD) caused by the accumulation of glucosylceramide/glucocerebroside. There are several types of Gaucher, such as non-neuronopathic, infantile-onset neuronopathic and juvenile-onset neuronopathic. This case study aims to evaluate Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia.Case Presentation: A 4-years-old child is admitted to the hospital with a chief complaint of enlargement in the stomach. There is no pain in the bone as well as no sign of bleeding. The patient's parents are blood relatives. On physical examination, hepatosplenomegaly was found, a decreased level of hemoglobin and thrombocytes was also found in the hematology examination. There was an increase of level ferritin, Alanine Aminotransferase (ALT), Aspartate Aminotransferase (AST), globulin, and triglycerides from chemistry evaluation, also decreasing level total cholesterol. From bone marrow aspiration was found an increase of activity of the megakaryocyte and Gaucher's cell. The result from enzyme examination found a decrease of activity enzyme ?-glucosidase. Suggestion to this patient is Enzyme Replacement Therapy (ERT).Conclusion: Gaucher's disease is a rare case and difficult to diagnose. A biochemistry examination using the enzyme -glucosidase is necessarily needed as well as a suggestion of ERT.