Unexplained hepatosplenomegaly: a storage disorder

Abstract

Gaucher’s disease (GD), a lysosomal storage disorder is caused by defect in the housekeeping gene lysosomal glucocerebrosidase which is present on the first chromosome (1q22). It was first described by a French physician, Philippe Gaucher in 1882. The metabolic defect is the deficiency of the lysosomal hydrolase β-glucosidase, identified by Brady et al. Hereby we reported a 3 year 6-month-old male child presenting with mass per abdomen. Peripheral smear showed bicytopenia and bone marrow aspiration revealed normal erythropoiesis and Gaucher’s cells in a background of normal erythroid, myeloid, and megakaryocytic lineage cells. An impression of lysosomal storage disorder was given and child was evaluated further by genetic analysis. Therefore, we emphasized the importance of early recognition by clinical manifestation and histological findings. The practicing paediatrician should have an index of suspicion for storage disorders as a differential diagnosis of children with unexplained hepatosplenomegaly. Early diagnosis of GD would lead to initiation of effective treatment with enzyme replacement which can decrease morbidity.