DOI: 10.36347/sjmcr.2014.v02i02.010

Pages: 96-99

Gaucher disease an uncommon autosomal recessive disorder, caused by deficiency in the activity of the lysosomal enzyme glucocerebrosidase, responsible for the degradation of glucosylceramide, résulting from the breakdown of red and white cell-membranes. In the absence of enzyme, glucosylceramide accumulates in lysosomes of macrophages , leads to hepatomegaly, splenomegaly with haematologic abnormalities -leucopenia, anaemia, thrombocytopenia and bone manifestations. Three types of Gaucher disease are described: type 1 ,most common, nonneuronopathic form, type 2 and 3 are associated with neurologic symptoms.With the advent of enzyme replacement therapy and substrate reduction therapy the natural history of the disease has been changed with a marked decrease in morbidity, especially for typeI patients. We report this case of a 14 year old boy referred to Haematology department with massive splenomegaly. Hematological workup revealed pancytopenia. Bone marrow study showed the characteristic Gaucher cells and diagnosis of TypeI (non-neuronopathic) Gaucher disease was given. Patient underwent splenectomy