Gaucher's Disease: Not a Rare Clinical Entity..!

This is a study of clinical presentation of gauchers disease in 5 patients diagnosed between December 2010 to December 2014 at a tertiary care centre. All patients were less than 4 years of age and were diagnosed for the first time in our set up. All of them presented with splenoheptomegaly, other features being pancytopenia, neurological involvement and bone involvement. Male to female ratio was 23. Diagnosis was confirmed by bone marrow examination in four out of five patients, the rest one was diagnosed by microscopic examination of splenic tissue after splenectomy for hypersplenism. One patient succumbed to death because of neurological involvement in form of persistent seizures at 10 months of age (gauchers disease type 2). Others were treated symptomatically and were referred to higher centre for enzyme replacement therapy. Gauchers disease, Beta-glucosidase, Pancytopenia, Crumpled tissue appearance, Enzyme replacement therapy