GAUCHER DISEASE- A RARE CASE REPORT FROM A TERTIARY CARE HOSPITAL IN NORTHERN INDIA

Abstract

Gaucher disease is a rare lysosomal storage disorder with very few case reports from India. We intend to publish one such rare case with the aim of highlighting the detailed diagnostic approach to make an early and correct diagnosis of such a rare disorder. A three and a half year female presented to pediatric department with progressive abdominal distension since nine months. On examination, she was found to have massive splenomegaly . Investigations revealed bicytopenia. All relevant investigations were done step by step but the cause of splenomegaly was not evident . Bone marrow aspirate clinched the diagnosis as it showed presence of characteristic Gaucher Cells. Further confirmation of the diagnosis was done by biochemical level of glucocerebrosidase enzyme which was found to be extremely low. Molecular genetic analysis was also found to be positive, confirming the diagnosis.Also, genetic mutation detected, according to our case phenotype was rare. A step wise comprehensive approach to cases presenting with cytopenias and splenomegaly is required in order not to miss such rare cases of storage disorders.