Gaucher disease: A case presentation

Abstract

Gaucher disease (GD) is an autosomal recessive genetic disorder. It is a rare disorder due to mutation in the acid-β-glucosidase (GBA1) gene. This mutation leads to deficiency of the enzyme glucocerebrosidase. The gene responsible for the disease is located on chromosome 1 band q21. The disorder is characterized by accumulation of gaucher cells in bone marrow, spleen and liver. Gaucher cells are macrophages with deposition of glucosylceramide. Gaucher disease is the most common lysosomal storage disorder. It affects all ethnicities. The clinical presentation of GD is highly variable which depends on geographic and ethnic origin. There are three clinical subtypes have been identified- Type 1 (Adult subtype- Non neuropathic), Type-2 (Infantile subtype-Acute neuropathic), Type -3 (Juvenile subtype- Chronic neuropathic) . Diagnosis is confirmed on the basis of identification of deficiency of glucocerebrosidase activity and also by Bone marrow biopsy examination which demonstrates Gaucher cells. The mainstay of treatment in gaucher disease is enzyme replacement therapy. In this study we reported a case of GD in a 39-year-old male with hepatosplenomegaly and pancytopenia. The diagnosis was challenging in this case since we needed to work out all the differential diagnosis of pancytopenia and hepatosplenomegaly. The patient was initially diagnosed as suffering from decompensated liver disease by radiological investigations and other biochemical investigations. Later on Bone marrow biopsy examination done which shows large number of gaucher cells. Special stain PAS and prussian blue were done on bone marrow biopsy and result came positive. Assesment of enzyme B-glucocerebrosidase level was done which was below the reference range so the diagnosis of GD confirmed.