BONE MARROW ASPIRATION STUDY AS A POINTER TO DIAGNOSIS OF GAUCHERS DISEASE

Introduction:Gaucher's disease is an inherited, autosomal recessive storage disease of glucocerebroside due to a deficiency of glucocerebrosidase enzymes. It has an estimated global incidence of 1: 40,000 to 1:60,000 live births.We present this to highlight the importance of bone marrow examination as an initial diagnostic modality providing an early pointer towards storage disorders, thus reducing the diagnostic delay and helping in early treatment initiation. Method:(Case) We present a 3 year old Hindu boy born out of a non consanguineous marriage(1st child) referred to special OPD(PHO) with complaints of pallor, recurrent infections and abdominal distension. He had hepatosplenomegaly and rest of the systems was within normal limit. His routine Peripheral blood examination showed a leucoerthroblastic picture with a reticulocyte count of 1.8%. His glucocerebrosidase enzyme assay done from a private lab previously was inconclusive. A bone marrow examination was finally done and aspirate and biopsy revealed sheets of PAS positive gaucher cells. Imprint was not very informative. Result:(Diagnosis) The genetic tests done in a outsourced lab using PCR with Gene ID 2629, revealed homozygous pLeu483 Pro pathogenic missense mutation which confirmed gauchers. Conclusion:Our case highlights the importance of a meticulous bone marrow examination as a screening of storage disorders. Enzyme assays may be inconclusive in case of prior transfusion or if not performed in standard laboratories. However enzymatic study and genetic examination remain the gold standards for diagnosis of gauchers.