Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher’s disease

Gaucher's disease (GD) is the most common lysosomal storage disorder inherited in an autosomal recessive pattern. It occurs due to a deficiency of the enzyme glucocerebrosidase owing to a mutation in the acid-β-glucosidase (<i>GBA1</i>) gene resulting in accumulation of glucocerebrosides in lysosomes of cells. It presents with abdominal distension, hepatosplenomegaly, developmental delay, pancytopenia, neurological manifestations and bone diseases. Clinical examination, bone marrow findings and enzyme studies are important tools in early diagnosis which is further confirmed by genetic studies. Enzyme replacement and symptomatic treatment is the mainstay of management. We report a male child in the first decade who presented with pancytopenia, abdominal distension, delayed milestones and chronic liver disease. Bone marrow evaluation suggested a diagnosis of GD, which was confirmed by enzyme assay and molecular study. This case report highlights the role of bone marrow biopsy and significance of early diagnosis of GD to ensure its proper management at an early stage.